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Interviewer: Dystonia is a movement disorder. It causes muscles to contract involuntarily, and sometimes it can lead to repetitive or twisting movements in different parts of the body. The involuntary movements can really impact a person's daily life.

Neurologist and movement disorder specialist, Panagiotis Kassavetis, works with dystonia patients at University of Utah Health.

Dr. Kassavetis, it's my understanding that dystonia can sometimes be a difficult condition to diagnose. So when does a patient usually come to see you or somebody like you, a specialist, at a movement disorder clinic?

Dr. Kassavetis: Yeah, a lot of times patients would have an abnormal muscle contraction, abnormal movement, and they will refer to the movement disorders clinic. So when we see them, we have to think about dystonia and we have to think about how to diagnose dystonia.

Interviewer: So the referring physicians a lot of times know that there's some sort of movement disorder here. They might not be able to make that diagnosis, but they know that you would be able to do that.

Dr. Kassavetis: Yeah. So we take into account a lot of different elements, including the physical examination, the history of the patient, the family history. Sometimes we do some workup including brain imaging, laboratory tests in order to come up with a diagnosis.

Interviewer: So this isn't something that somebody could go on the internet and diagnose themselves very easily? Or could they get close? Have you had patients that did not receive a proper diagnosis, did some research, and said, "I think this is what I have"?

Dr. Kassavetis: This is very common in dystonia, a misdiagnosis of dystonia. The problem is that the definition of dystonia is abnormal, involuntary twisting movements, tremors that are repetitive. This can happen from many other different conditions. Strokes can have abnormal movements. Multiple sclerosis can cause abnormal movements, muscle conditions. Peripheral nerve conditions can cause abnormal movements. It's very common for the patients to misdiagnose themselves.

Also, on the internet, there is a lot of content that is not accurate. So a lot of patients, if you Google or if you go to YouTube and search for dystonia, you will see a lot of patients that are diagnosed with dystonia or present themselves as having dystonia, but they don't really have dystonia. And there are studies to prove that.

Interviewer: Wow. Okay. So it's a very difficult disease to diagnose. Really, it requires a professional, it requires imaging, it requires other tests as well. After a person has symptoms of dystonia, how long on average before they actually do receive that diagnosis?

Dr. Kassavetis: It can take years. Depending on the severity of the symptoms, it can take years. If it's a subtle symptom, the patients may bounce from one doctor to the other, and for many years they wouldn't have a diagnosis or treatment. If the symptoms are very severe, usually there is more pressure to reach movement disorders clinic and they get the diagnosis.

Interviewer: So it's difficult to diagnose. Is one of the reasons because it has many symptoms and presentations? Tell me more about that.

Dr. Kassavetis: Dystonia is very heterogeneous, so it can be very difficult to have a specific pattern that as a physician, when you see it, you're sure that this is dystonia. You have to know a lot of details about dystonia.

For example, dystonia can affect pretty much anybody. It can affect young children or it can affect older adults. It can be generalized when the abnormal muscle spasms happen throughout the body, or it can be focal with a very task-specific presentation where the pinky finger, for example, may contract when the patient writes. So it can be very heterogeneous, and for that reason, it's very difficult to diagnose.

Interviewer: How do patients describe their symptoms when they have dystonia? It's probably very difficult because you've already explained that it can be a lot of different symptoms seemingly. So how do they describe? What are some of the words they use when you talk to them?

Dr. Kassavetis: The way the patients describe the symptoms are actually very important for the diagnosis of dystonia. So the words that they use are muscle spasm or a pulling or muscle contraction, muscle spasm, cramp.

Usually, the dystonias are not painful. So the first, the chief complaint is usually the abnormal movement. It's not pain. When you hear a patient presenting with mostly complaining of pain and secondarily they say that there may be some abnormal movement, then this is a red flag for dystonia. Some dystonias are painful indeed, but usually the abnormal movement is more of a complaint than any other symptom, including pain.

Interviewer: And then as you're observing somebody, if the symptoms manifest while you're doing the consulting, what does that look like? Is it something the average person would notice?

Dr. Kassavetis: Sometimes it's very subtle and it's very difficult to notice. The neurological exam for dystonia has to be tailored to the specific dystonia. So sometimes we have to walk outside of the clinic to be able to see the dystonia.

For example, if somebody has stairs dystonia where the dystonia happens when they go up the stairs, we have to walk outside the clinic, find the stairs, ask the patient to go up and down in order to see the dystonia. So we have to trigger the dystonia. We have to find ways to be able to see the symptoms in the dystonia.

We have sometimes to bring tools. Patients that have a particular dystonia that's called musician's dystonia, the dystonia happens only when they play their musical instrument. We ask them to bring their guitar or their instrument to play it in the clinic so we can see the abnormal movement.

Interviewer: So how can dystonia interfere with a patient's daily life?

Dr. Kassavetis: Usually the abnormal movement is what interferes with activities of daily living. So if somebody has an abnormal movement when they write, they're not able to write. Or when they have an abnormal movement when they play their musical instrument, this can be very challenging for some people, especially for musicians.

Now, this is all about focal dystonia. There are other dystonias that can be generalized. For example, some genetic force of dystonia that affects young children can be very severe. These patients sometimes have difficulty walking. They have to be in a wheelchair. They have sometimes difficulties eating. They need support to communicate. So because dystonia is very heterogeneous, it can affect many aspects of life and with different severities.

Interviewer: Let's talk about treatment for a moment. So does treatment cure the disease or does it just help the patient manage the symptoms?

Dr. Kassavetis: So treatment will depend on the etiology of dystonia. Dystonia is very heterogeneous in the way it presents, but also the etiology, the reason why patients get dystonia is very heterogeneous. It varies a lot. So if dystonia, for example, is a side effect of a medication, by withdrawing this medication, the dystonia improves.

But most of the time, there is no cure for dystonia. So most of the time, we use medications or surgeries to manage the symptoms.

Interviewer: So tell me about the treatment options for dystonia. Is there some sort of an order that you generally go in, or does it really vary depending on the type of dystonia the patient has?

Dr. Kassavetis: Yes, it varies depending on the dystonia that the patient has. But a general rule of thumb is that the first-line treatment for dystonia management is botulinum toxin injections. This is a toxin that we inject in the muscles to make the muscles weak and prevent them from having the abnormal spasms that they have.

Interviewer: Same thing as Botox. Is that Botox you're talking about?

Dr. Kassavetis: Botox is a specific brand of botulinum toxin.

Interviewer: Oh, okay.

Dr. Kassavetis: There are different brands of botulinum toxin that we use.

Interviewer: Got it. Okay. So that's generally the first treatment. How effective generally is that?

Dr. Kassavetis: When there is a specific focal problem, botulinum toxin injections can be very successful. The problem with those injections is that the effect does not last for very long. It lasts for about three months. So the patients have to come back every three months to the clinic to get injections.

Interviewer: And there is no point where those injections would stop, that the condition would eventually get better through those injections?

Dr. Kassavetis: That's correct. Sometimes the symptoms fluctuate over time, sometimes they get a little better, sometimes they get a little worse. But most of the time, the dystonia continues. Now, again, with the caveat that it depends on the etiology of the dystonia.

Interviewer: Yeah, the type of dystonia it is, how it's presenting, that sort of thing. So do most of your patients go for the Botox and just accept the fact that it's going to be every three months I need to come back and do that? Or do they usually ask for other options that might be more permanent at that point?

Dr. Kassavetis: For patients that have focal dystonia, and most adult dystonias are focal dystonias, they do continue with botulinum toxin injections for many years. In fact, they can go on for decades with botulinum toxin injections every three months.

Interviewer: No real side effects for that treatment?

Dr. Kassavetis: All treatments have side effects.

Interviewer: Sure. How significant are they?

Dr. Kassavetis: Botulinum toxin can cause atrophy of the muscles that we inject chronically. So it can make the muscles weak. And sometimes if the toxin spreads in muscles that don't have the dystonia, then these muscles get weak and we can affect normal functions.

For example, if we inject the patient in the neck area, where if they have a type of dystonia that's called cervical dystonia, and that's actually the most common type of focal dystonia in adults, then we can affect muscles that do the swallowing function and patients can get swallowing difficulties.

So there are always risks and side effects that we have to consider and we discuss with the patient before every treatment. And for that reason, I think it's important for patients to get treatment in clinics that have expertise in injecting patients with dystonia.

Interviewer: What's the next line of treatment for dystonia? What are other tools that you have?

Dr. Kassavetis: We have several medications that sometimes we try for dystonia. Unfortunately, these medications are not very successful, and a lot of times as we increase the dose of those medications, we get side effects before we even get any meaningful benefit. And if that happens, then we stop the medications.

But it's reasonable, a lot of times, to try some of those medications because sometimes they can provide meaningful benefit in addition to the botulinum toxin injections.

Interviewer: And then surgery is also an option. How many patients need that option and who is that for?

Dr. Kassavetis: Usually we'll consider surgery only for the refractory cases where the patients don't get meaningful benefit from botulinum toxin injections or from medications. It's a type of treatment that, I would say, we consider only in very severe cases.

Interviewer: Severe meaning it really impacts quality of life?

Dr. Kassavetis: Yes. Usually, when the abnormal movements cause secondary problems, musculoskeletal problems, or the quality of life is very poor, then brain surgeries are considered. And they can be quite successful in these cases.

Interviewer: And what about physical therapy? Is that something that can be used for somebody who has dystonia?

Dr. Kassavetis: Physical therapy is always good. I frequently recommend physical therapy for my patients. Unfortunately, for dystonia, it's not very successful, but some patients do find some benefit. And it's a low-risk intervention, so usually it's a good thing to try.

Interviewer: Back to the "it's a complicated and misunderstood condition," it sounds like it's kind of a little hit-and-miss. You kind of have to try some things out to see what works for each individual as far as treatments to get them to the place they want to be.

Dr. Kassavetis: Yes, I agree with that. I think that the treatment has to be tailored to the specific patient. We consider the etiology of the dystonia and how the symptoms present to decide which one we'll try first and which one would go second and third and so on.

Interviewer: What is it like caring for patients with dystonia?

Dr. Kassavetis: I like the patient population that has dystonia. There is a lot of reward when we are able to help the patients to improve their symptoms, and sometimes we are able to do that and that is great when it happens.

We do have cases where the patients come in, they get the diagnosis first, and then we do the treatment. And after we do the injections, the patients don't get benefit immediately, so we don't know what's going to happen. We have to wait.

We book an appointment in three months, and this is when the patient comes back and it's always a happy moment when I ask the patient, "How did that go?" And they say, "The symptoms improved significantly, so I was able to perform the task that was affected." For example, typing or writing or playing my musical instrument.

And this is fantastic because then we can repeat the injections. We have a treatment, we know that this is going to last, and we can improve significantly the patients' lives.

Interviewer: And in that case, three months later, if the patient came in and said, "Eh, it's not really helping," what do you do at that point?

Dr. Kassavetis: That is expected. Not every time the injections work the same way. So sometimes we have great benefit, meaning that 80% or 90% of improvement. But sometimes the patient may come back and say, "This time it worked 50% or 40%," and this is expected.

Then that would mean two things. Either the last time we did the injections, we gave a smaller dose or the targeting was not correct or it is not so accurate, or the dystonia has progressed. Now, the dystonia has different features. So the way to address that is to adjust the pattern of injections or maybe the dose of injections.

And usually, when the patients had some response in the past, we do expect that we'll get it back.

Interviewer: And what is the average amount of time for somebody to get to a point where they are happy with the amount of symptom reduction that they have?

Dr. Kassavetis: So usually when I inject for the first time a patient, I'm very conservative. To avoid side effects, we try to decide on a lower dose. And it's possible that the first time, the pattern of injections, the dose of injections is not optimal. So usually I say to the patients, "We need to try two or three times to optimize the pattern of injections." And two or three times, this means about six or nine months. So it can take half a year or a year until we optimize the botulinum toxin pattern.

I think what's really important is patients that have dystonia or they have suspected dystonia to at least be seen in the beginning or when they have symptoms in a movement disorders clinic. Sometimes we are able to see the patients, make diagnosis, make a treatment plan, and then they're able to return back to their local neurologist and continue the treatment. But I think that if somebody has abnormal movements, muscle spasms, a referral to a movement disorders clinic is very important.

Interviewer: Severe, sudden, and sometimes debilitating face pain is a symptom of a disease called trigeminal neuralgia and some people suffer with the condition and don't even realize that's what they have. Or maybe it was misdiagnosed as something else so they can't get treatment.

Dr. Shervin Rahimpour is a neurosurgeon who specializes in the surgical treatment of trigeminal neuralgia, and he's going to help us understand how to come to that diagnosis. So first of all, you tell me it's a poorly diagnosed disease. What exactly do you mean by that?

Dr. Rahimpour: Often this pain is distributed around the cheek and jaw area. And so it's natural for patients to think that this is likely a result of their dental health. And so they often seek treatment through a dentist, usually, you know, undergo a tooth extraction or something like that, and that pain persists. So that's often why this is poorly diagnosed is because it overlaps with other common issues like having tooth pain.

Interviewer: Yeah. And I think a lot of us think well, the pain is here, this must be the source of the pain. It's in my mouth or my cheek, it must be the source. But that's not the case with this disease. Where does the pain originate from?

Dr. Rahimpour: The trigeminal nerve, which is one of the 12 cranial nerves that we have, supplies, amongst other things, the sensation that we feel over our face. So there are two nerves, one for each side. Each nerve supplies the sensation to that half of the face. And the nerve has three divisions associated with it. There's one that kind of overlays the forehead and around the eye. The other division is around the cheek area, and then a third division encompasses the jaw. And so most commonly, the pain is likely to affect those bottom two divisions, which is around the cheek and the jaw area, and that's where this overlap comes with potentially pain coming from your teeth.

Interviewer: And somebody goes to the dentist, they have an extraction done and that doesn't solve anything. Do they try to get a diagnosis beyond that, or do most people just give up or do you know?

Dr. Rahimpour: Yeah, I should add that sometimes it can be your teeth. So it is worth having that evaluation done by your dentist. But eventually, this pain syndrome is referred either to a pain specialist or even a neurologist. Those are the folks that typically end up diagnosing this as trigeminal neuralgia-type pain.

Interviewer: Explain some of the common symptoms that people might experience.

Dr. Rahimpour: Yeah, absolutely. So again, this pain used to be . . . this disease used to be known as suicide disease because it was such a horrible pain for patients to experience. And it's often a severe electric type jolt or stabbing pain involving one or more of the divisions of the trigeminal nerve of the face. It's often set off by very relatively innocuous stimuli. What I mean by that is anything as simple as just a gust of wind, or talking or brushing your teeth, or having water hit your face when you're taking a shower. These are kind of the very, very basic and innocuous things that can trigger that type of pain.

Interviewer: And what's going on with the nerves that is causing this pain?

Dr. Rahimpour: The vast majority of cases are thought to be caused by a vessel sitting on the nerve root as it enters into the brainstem. And so what this vessel causes is damage over a period of time that ends up injuring the insulation around the nerve known as myelin. And then this can result in sort of aberrant firing of the nerve.

Interviewer: So it's rubbing against there, damaging the insulation every time your heart beats.

Dr. Rahimpour: That's exactly right.

Interviewer: It's damaging the . . . Okay.

Dr. Rahimpour: So the thought is that if we can remove or transpose this vessel from the nerve root . . .

Interviewer: Yeah, get it away from there.

Dr. Rahimpour: Get it away from there, that could potentially allow the nerve to heal and prevent some of this aberrant firing.

Interviewer: And if a patient has this type of pain, they would go to their primary care physician first likely. What would that workup look like?

Dr. Rahimpour: Typically, the patient has these classic types of symptoms or the stabbing electric type pains of the facial region, again, involving either one or more divisions of the trigeminal nerve. And we often ask patients, you know, "How is this pain brought about?" If it's something, again, wind, chewing, talking, anything like that, that's pretty consistent with trigeminal neuralgia. The pain also again persists to seconds to potentially minutes, and so that's another signature or hallmark of the disease. And we often look for patients that, you know, typically we find that this disease occurs more often in the older population. So the incidence kind of climbs as age goes up. But this can also be a result of some other secondary processes. Certainly, it can range anything from facial trauma and include other secondary causes like multiple sclerosis.

Interviewer: At what point should a person consider consulting with a physician who specializes in trigeminal neuralgia?

Dr. Rahimpour: I think early on it's best to have the medical therapy be optimized. So a lot of the medications we use for this type of pain are actually anticonvulsants used in epilepsy. The reason why is because, similar to epilepsy, the nerve can act on its own and fire. And so the idea is can we stabilize this nerve so that it prevents it from firing, the same way that we try for epilepsy. Those types of medications are started, they're increased to a therapeutic level and then the patient is evaluated to see if this treats their pain. Again, the vast majority of patients respond to these medications, something upwards of 90%, but half of those patients end up having unwanted drug side effects. And then, of course, there's a 10% that did not respond to the medication at all.

Interviewer: Yeah. And this medication, is it kind of a dialing-in process, you've kind of got to figure out the sweet spot for everybody?

Dr. Rahimpour: Yeah, I would say that most anticonvulsants are started at a low dose and gradually titrated up.

Interviewer: And for the individual that is not responding to medication, or the side effects are just so terrible that it's really impacting the quality of life, and that's where the microvascular decompression procedure comes in. That's what you're doing there.

Dr. Rahimpour: That's exactly right. So for patients that aren't responding to the medication, if they've had an MRI scan that shows that potentially there might be a vessel there pushing on the nerve, that's where microvascular decompression can play a role.

Interviewer: What about for patients where they have the condition, and it's not pressing against that nerve? That's possible, right?

Dr. Rahimpour: Patients where we don't necessarily see a blood vessel pushing on the nerve, or they might not necessarily be a good operative candidate, we can offer other minimally invasive approaches. Those approaches include percutaneous rhizotomies. The premise there is that we with a needle go to the base of this nerve, known as the trigeminal ganglion, and we try to damage that nerve to sort of disrupt the pain signal. The other option is using radiation in the same way that folks use it for tumors to try to focus the radiation and try to damage the nerve again, to stop this pain signaling.

Interviewer: Are these other last two procedures, are they an alternative to somebody getting a microvascular decompression?

Dr. Rahimpour: They are alternatives, but I should add that they're not as efficacious. So when we do find patients are good candidates for microvascular decompression, we try to advocate for that as it gives us the best chance for pain freedom.

Interviewer: After somebody has the microvascular decompression, what is the success rate that that actually takes care of the pain?

Dr. Rahimpour: We expect that patients often have immediate pain relief after surgery, especially if we do find a blood vessel that's compressing the nerve. Historically, 70% to 80% of patients are still pain-free at five years.

Interviewer: And the other 20%?

Dr. Rahimpour: Pain can reoccur. And if that's the case, we can always revisit other possible interventions, including some of the percutaneous and radiosurgery techniques that I mentioned.

Interviewer: For the patients who get the microvascular decompression, what's the satisfaction rate among those patients? I hear this could be life-changing for some people.

Dr. Rahimpour: Absolutely. So again, this is a very debilitating disease. I mean, you can imagine if it's affecting the way you eat, and the way you conduct yourself throughout your day-to-day in anticipation of a sudden pain strike, being pain-free means everything. And so when patients are pain-free again, where we expect that to be the case in the vast, vast majority of times after microvascular decompression, this is absolutely life-changing.

Interviewer: Focused ultrasound to treat essential tremor and how to decide if it's a good option for you. Dr. Shervin Rahimpour is a neurosurgeon who specializes in the treatment of essential tremor. Who is a good candidate to get relief if they have tremor symptoms using this treatment? Let's just start there.

Dr. Rahimpour: Essential tremor is the most common movement disorder and affects upwards of 10 million people in the United States. It's characterized by this either postural tremor when you try to maintain a posture with your hands or it can be brought about when you're trying to perform some kind of physical action with your hands. And it doesn't necessarily just affect the hands. It can affect people's voice, their balance, and other extremities.

While there are effective medications for essential tremor, some patients don't either respond to these medications or have bad drug side effects, and we have good interventions to try to treat this surgically.

Interviewer: And is there somebody in particular, beyond perhaps medications don't work or they'd react badly to them, that would be a good candidate for this particular surgery?

Dr. Rahimpour: Yeah, it could be the case that the medications work but just not enough. So you could imagine if your hands are shaking, whether it's affecting your work or just even trying to feed yourself, this can be really debilitating. So if the medications make the tremor a little bit better but not quite to where you need it to be, to be functional, that's where surgical intervention can play a significant role.

Interviewer: And if somebody comes into your office, what process do you go through to determine if they're a candidate?

Dr. Rahimpour: First, we make sure that they've actually exhausted their medical options. Obviously, we don't want to perform surgery on someone that could otherwise be treated with medications.

The next step is we assess their tremor. Sometimes patients are misdiagnosed, so we want to make sure they actually have essential tremor and not some other kind of movement disorder.

Once we've confirmed that, we assess their surgical candidacy. We look at their MRI imaging to look at their brain anatomy.

And then we discuss some of the options that are available to them. Currently, we have two different treatment options for essential tremor. Historically, the mainstay of surgical management of essential tremor has been deep brain stimulation, which involves placing electrodes in the sweet spot of the brain called the thalamus where we believe is a critical area for essential tremor.

This treatment involves two stages. One is placement of the electrodes in the brain during an awake surgery to make sure that we are providing adequate tremor relief, and then a second stage, which involves connecting those wires to a battery typically in the chest pocket, like you would for a pacemaker.

Now, this therapy is not necessarily for everyone. Certainly, for patients who don't want an open surgery, and also those that may not qualify as a good surgical candidate. And that's where I think focused ultrasound can play a significant role.

Interviewer: And how does focused ultrasound work then?

Dr. Rahimpour: Yeah. So focused ultrasound . . . similar to the way a magnifying glass focuses a beam of light to a point, acoustic lenses can be used to focus sound to a point. And so we use this principle to focus sound energy to that same spot in the brain, the thalamus, to try to disrupt the circuit that's causing a patient to have tremors.

Interviewer: This is non-invasive completely?

Dr. Rahimpour: Yeah, absolutely. So it involves a couple of things. One is to shave the head entirely, and other than that, there are no incisions, and typically, patients leave the hospital the same day.

Interviewer: Wow. And what about relief from the tremors? Does that develop pretty quickly as well?

Dr. Rahimpour: Yeah. That, we expect to be immediate. The caveat currently is that we can only treat one side of the brain. So for patients who might, say, be right-handed, treating their left brain for their right hand can mean a significant improvement in their quality of life.

Interviewer: And I've heard this procedure could also be used for Parkinson's. Is that true?

Dr. Rahimpour: Yeah. So for patients who have a tremor-dominant Parkinson's disease, focused ultrasound can also be an option. And then recently, as of last year, it's also FDA approved for other symptoms of Parkinson's, not just the tremor. Other symptoms include things like bradykinesia or rigidity, so difficulties initiating movement or moving.

Interviewer: If somebody is eligible for focused ultrasound, what considerations would a patient go through to determine if that's the treatment that they want to pursue?

Dr. Rahimpour: Yeah, so similar to deep brain stimulation, we want to make sure that the patient has the appropriate diagnosis for essential tremor, again, because a lot of things can mimic this disease.

So patients have to ask themselves whether or not they are willing to undergo an open surgery, which is deep brain stimulation. And if they're not, then this gives them a nice alternative option.

Patients who undergo evaluation for focused ultrasound should also consider potential side effects from this treatment. That includes temporary ones, like having some numbness and tingling sensations on the same side as their tremor, as well as potentially a brief period of time after the procedure of poor balance.

As the swelling develops from the treatment over the course of the next several days to weeks after the procedure, sometimes these symptoms can get a little bit worse before getting better. And by three months out to a year of follow-up, we don't expect these symptoms to persist.

Interviewer: Are there any long-term type symptoms that a patient should be aware of?

Dr. Rahimpour: Very rarely can these paresthesias or the sensation of numbness and tingling persist at a year's time, and the same goes for balance and abnormal gait.

One part of our pre-procedural evaluation involves an evaluation by our physical therapist, who assesses patients' gait and balance to ensure that we have a good adequate baseline before undergoing this procedure.

Interviewer: For somebody with essential tremor, when you use the focused ultrasound to reduce their tremors, how does that impact their quality of life?

Dr. Rahimpour: Treatment with focused ultrasound to reduce tremor can have a very meaningful impact on one's quality of life. It gives them the ability to do some of the hobbies that they enjoy and certainly some basic tasks like feeding themselves.

Interviewer: After somebody has had a focused ultrasound to treat tremor and, say, the tremor starts coming back after a period of time, the three years that you mentioned, can they get the focused ultrasound again?

Dr. Rahimpour: Absolutely. We can reevaluate them in clinic to see what their options are.

Interviewer: And if at that point they've also decided, "Well, maybe I want to try the deep brain stimulation at this point," is that another option?

Dr. Rahimpour: Yes, that can also still be on the table as an option.

Interviewer: All right. Let's talk about chronic headaches. Dr. Bartel is an expert in headaches. He did a Fellowship in Headache Medicine, they call it. And for a chronic headache sufferer, man, it can really just impact your life in a lot of negative ways. How do you treat it? That's going to be the question we're going to answer today with Dr. Bartel. So first of all, what do you as a medical provider consider a chronic headache? What makes it chronic?

Dr. Bartel: So there are a lot of different types of chronic headaches. In a general sense, chronic headaches are headaches affecting somebody more than half of the month. So we tend to consider more than 15 headache days per month as a chronic headache.

Interviewer: And chronic headache sufferers, do the headaches last all day? Is it maybe just a half hour every day? What's that kind of look like?

Dr. Bartel: They can. It depends on the type of headache. So oftentimes, for instance, migraine headaches will last for many hours. There are certain types of headaches that do truly never go away, and some people have headaches every waking hour of their day.

Interviewer: So if you're having headaches 15 or more days a month, that is a chronic headache. Do you also look at the intensity of the headache when you're looking at a chronic headache? Is it kind of a balancing act, or is it really just purely how often are you having this headache?

Dr. Bartel: Yeah, certainly the degree of disability that is involved. Even if a headache isn't truly half of the month, we will often consider preventative medicine. If somebody has headaches at least four days out of the month, like once per week, and it's particularly debilitating or it really bothers them, we'll even sometimes try medication then. But oftentimes, we'll reserve at least some of the more involved therapies for people that have chronic migraine.

There's some evidence that there are a lot of medicines that help, a lot of different therapies that help for what we call an episodic headache, less than 15 days out of the month. They can work for both chronic or episodic. But we pay special attention to those that have headaches that are more severe or that are particularly debilitating.

Interviewer: So there's a difference between a chronic and an episodic headache insofar as what causes them and how you would treat them.

Dr. Bartel: Yeah, it's really a continuum. But between tension-type headaches, which are the most common type of headache, migraine headaches that tend to be the most common severe type of headache, there's cluster headache. There can be a chronic cluster headache or episodic cluster headache. In all of these, it really depends on how bad they are, how much this is affecting somebody's life. And we really use that information to help cater the treatment for everybody's different headache condition.

Interviewer: If somebody is genetically predisposed to a headache, are they just going to get them regardless of what kind of lifestyle decisions they're making? Or do those impact as well?

Dr. Bartel: Yeah, not necessarily. Certain things can reduce the likelihood of having chronic headaches. So things like effectively managing your stress. That's easier said than done, of course, but having certain various coping skills to help when you have a really stressful situation come up.

You can manage it by exercise. So for some people, exercise can make their headaches worse, but in general, exercise, when you do it fairly routinely, 5 days a week, 20 to 30 minutes a day, just enough to kind of get your blood flowing, your heart rate up a little bit, causing a little bit of sweating, that can all really help with reducing the likelihood of headaches.

Having good social support. Actually being married or in a committed relationship can actually be protective against headaches also.

Interviewer: Really? Wow.

Dr. Bartel: Yeah, as is it turns out. In general, just having a good social structure, social support system can be helpful for a lot of conditions, but headache is certainly one of them.

Interviewer: I like one problem, one solution. It doesn't sound like headaches are that at all.

Dr. Bartel: Unfortunately not. Yeah, it's not at all a one size fits all type of a condition. There are really so many different types of medicines, so many different types of alternative non-medication therapies that can be helpful. We try to really include the ones that we think are most likely to help each individual person, but we cater it to that person.

Interviewer: So for the person that has a chronic headache, if they wanted to try to treat it before going to a doctor, if they wanted to take a look at a few things to try to do it on their own, are there things that they could try before going to see the doctor? Dr. Bartel: Yeah. I think that trying to make sure that you're drinking plenty of water. You don't want to over-hydrate, but you want to make sure that you're drinking enough water. Getting enough sleep, regular sleep, every night is an important thing. Some people that have shift work jobs, that's difficult, but trying to get a good six to eight hours of sleep every night is really helpful.

Interviewer: Should somebody take a look at their diet? I mean, if they're eating a lot of sugar, for example, can that exacerbate a chronic headache? Dr. Bartel: Yeah, there are a lot of different food triggers for headaches, certainly. In general, there's no one diet that can help with headaches in a general sense, but trying to eat a little bit of protein when you have a headache can sometimes be helpful. Eating smaller meals throughout the day can also be helpful.

There are certain food triggers that can make headaches worse, things like MSG, monosodium glutamate. That's found in really every food these days practically, but also nitrates in certain cured meats, things like that.

Interviewer: So foods from our modern society.

Dr. Bartel: Pretty much, unfortunately. Yeah, there are really a lot of things. Simple carbohydrates can make headaches worse, just a lot of the sugars that we think about. But really, for everyone, it's a little bit different.

Interviewer: So it sounds like take a look at some of your lifestyle things. If some things have changed, like perhaps you're not sleeping as well or maybe you're hitting the candy bowl or the cookies a little bit harder than normal, could be some of those things that have all of a sudden brought on some headaches and a patient could definitely take a look at those and see if their headaches go away. Is there a time when a patient should not try to solve it on their own?

Dr. Bartel: Yeah, there are certain red flags that a doctor might think about to give us pause and want to recommend extra testing or at least more questions. So things like having stiff neck or fevers or just a change in your headache, generally, in the acute sense. So if you've had a certain type of headache for a long time and now all of a sudden there's something a little bit different about it, like you're just feeling kind of sick and you're just not feeling right, that can certainly be a red flag. It could just be worsening of your headache, but it could also be something else that's more threatening.

Having prolonged neurological symptoms with the headaches can be unusual. So it's one thing just to have a little bit of a visual aura before your headaches or numbness or tingling beforehand, but having prolonged symptoms like that isn't typical. It can be normal, but also it would be something to want to know more about from the provider's side.

Having weakness on one side is something that can happen with hemiplegic migraine, but it can also be a sign of other things happening in the brain.

Interviewer: Yeah, like a stroke.

Dr. Bartel: Exactly.

Interviewer: One of the signs of stroke is . . . yeah, wow. Okay.

Dr. Bartel: Having a new headache or kind of a changed headache in people that are a little bit older than age 50, for instance, can be a red flag also. There can be a lot of things that could be caused by, but that might indicate the need for imaging of the head.

Having a really sudden onset severe headache might be a reason to go into the ER for, which wouldn't be a bad idea because there can be bleeding in the brain. There can be a number of things that can cause that type of headache beyond just your standard tension headache or migraine headache.

Interviewer: Dr. Bartel, I don't know, after hearing those red flag headaches, I think I'm just going to go see a doctor and let one of you professionals work through it with me. It just sounds really complicated. It sounds like if I tried to get under the hood of my car and fix it is about the same thing as trying to diagnose a headache as well.

Dr. Bartel: It's difficult. I mean, it certainly can be. I think the main things to think about are if it's just a kind of a mild headache here and there that responds to ibuprofen, that's great. But you really want to be careful to not overuse your own research. If you're having headaches that are happening more often, certainly more than 15 days out of a month, it's probably a good idea to see a primary care provider to start with and then maybe see a neurologist or a headache expert otherwise just to kind of give you some tips and try to sort out what this headache is.

Interviewer: Someone's diagnosed with epilepsy, given medication for the seizures, and a year later still experiencing seizures. At what point do you go see a specialist?

Dr. Sindhu Richards is an expert in medically refractory epilepsy. Dr. Richards, when would somebody come and see you?

Dr. Richards: So we definitely say a year should be the general guidelines, but we try to be a little more proactive than that even. So, right now, the American Academy of Neurology has set out like a guideline saying that if a patient with epilepsy has been seen by the primary care provider and it's been three months where they're unable to treat the seizures effectively, they should be referred to some sort of neurologist, a general neurologist or an epilepsy specialist. And then, if a patient is seeing a general neurologist for a year with untreated seizures, those people should definitely be referred to an epilepsy center.

Interviewer: And after you reach that year, it's really not something that you should put off if you're still having seizures without medication. What are some of the dangers of doing that?

Dr. Richards: In terms of the biggest concern we get about uncontrolled seizures is there's a phenomenon called SUDEP, which stands for sudden unexplained death in epilepsy. And we really don't know the clear mechanism. We just know that people who have uncontrolled seizures are at higher chance of that. So that's the scariest thing we worry about for people who have uncontrolled seizures.

And then, in terms of like other complications, so people, you know, having ongoing seizures can really affect daily life. So when you're having seizures, you're unable to drive. You can't operate heavy machinery or be on heights. So it depends on your work situation as well. But the biggest one that impacts people is the driving aspect. So it can really affect your quality of life in that sense.

And then, also depending on where the seizures are coming from, most people kind of developed some memory problems in terms of ongoing seizure activity. So that's a common complication we see that we try to avoid, if we can treat them early.

Interviewer: At this point, they walk into your office. Walk me through the diagnosis process that you use to get to a diagnosis of medically refractory epilepsy. And from what I understand, one of the first things you might look at is, "Was the initial diagnosis of epilepsy correct?" Because I guess it's like 13% to 15% of people that are diagnosed with epilepsy actually have something else.

Dr. Richards: Yeah, exactly. So that's a really important step to clarify too. And one of the ways we do that is, obviously, getting a very good history in terms of what exactly they're doing from the patient. But also a really important aspect is getting a history from the bystanders because they're the ones that are seeing what the patient's actually doing.

A very common diagnosis that epilepsy can be confused with is what we call psychogenic non-epileptic spells. So some people, due to like stress or anxiety, their body can react in a way where it looks like they're having a seizure when actually they're not. Like, we look at the brain activity, it's actually completely normal during that time. So if we're uncertain about the diagnosis, that's definitely the first step to try to confirm that. And one of the ways we typically do that, that is available at epilepsy centers, is that we bring people into the hospital and monitor them on the EEG, which is the brainwave study. And we try to capture their typical episodes so that we can see exactly what's going on in the brain. And if they do have epilepsy, it helps us see where it is coming from in the brain. So that's usually the first step we do to kind of clarify the diagnosis.

And then, after that, in order to be diagnosed with medically refractory epilepsy, you have had to have an adequate trial of two anti-epileptic drugs and are continuing to have seizures. So in terms of what we mean by adequate trials is a lot of people stop medications because they have side effects from them, and so that wouldn't mean an adequate trial. So if you stop a medication because of side effects and you're still having seizures, you still have to have a good trial of two drugs before you can be considered medically refractory epilepsy.

Interviewer: So, at this point, if you do then come to the diagnosis that it is medically refractory epilepsy, what are the steps at that point?

Dr. Richards: When you see a patient who's diagnosed with epilepsy and you start a new medication, so an anti-epileptic drug, about 50% of patients will become seizure-free on that. So that's a really good amount of people who will be seizure-free. Once you get to the second drug, an additional 13% will be seizure-free.

So then you're kind of left in this third category of patients who are not seizure-free on medications. And you usually tend to try different trials, but they continue to have seizures. So it's that third of patients who are diagnosed with epilepsy that are considered the medically refractory.

And so, you know, like I said, the main concern for these people are the long-term side effects of having seizures, the risk of sudden death. So we really try to offer other options. And one of the biggest options we have to offer is surgery. And so there's a lot of workup to be done before we consider surgery because, you know, that is a very big step and it's a big deal for us and for patients too to go through potential brain surgery.

So the very first step, in terms of treatment of medically refractory epilepsy, is bringing someone into the hospital where we try to capture their seizures. Because, in order to see what surgical options a patient has, we need to know where the seizures are likely coming from. And so what we'll do is we'll bring the patient in, we'll stop all of their anti-epileptic drugs because we want them to have a seizure when they're in the hospital. And then, once we've gotten about two to three seizures and they're reliably from the same location or let's say they show us that the patient has seizures coming from several different locations, we'll know what the next step could be. So that would be the very first step.

And then, after that, we typically try to do some non-invasive evaluations to help us pinpoint even more where the seizures are coming from. So this includes different type of imaging. So patients will definitely get an MRI because we try to see if there's a reason or a lesion or a structural cause as to why they are having seizures.

And then we'll also do some more advanced imaging. So we'll do what we call a PET scan, which is a nuclear scan. So we inject dye and we look at the areas of activity in the brain. And usually, in patients with seizure, the activity of the brain is decreased in their seizure focus. So that helps us kind of guide us towards where we think the seizures are coming from as well.

And then we'll typically send them to a neuropsychologist. And the neuropsychologist will look at their memory, their language, and other important functions of the brain so we can figure out where these important functions are and to make sure that they aren't affected when we consider surgery.

And then, lastly, to kind of do that as well, we do what we call functional MRI, where we ask them to do some different language tasks and some different motor tasks because then we can see exactly where in the brain it lights up and we know where those tests are coming from so we avoid those areas in surgery as well. So there's quite an extensive workup to do before you even consider the surgical options for a patient.

Interviewer: And after you do all of these tests, you have a much better idea then of what you're dealing with, where the surgery needs to focus on. At that point, is the type of surgery that the patient will get really based on what those tests indicated, or are there some choices the patient will have to make in surgical procedures?

Dr. Richards: Yeah. So there are definitely choices that we can make, whether like how invasive the patient is willing to go versus like if they want to be a little more conservative, because we have options where we can actually take out the brain. But we also have a lot of neuromodulation, which are devices which wouldn't require any major, you know, removing of the skull in terms of brain surgery and things like that. So it's a ongoing discussion with the patient about what we think would be the benefits versus risks and what they feel like would be an acceptable surgery and things like that.

So after those initial testings are done, we'll typically put EEG electrodes directly into the brain. So it's a minor surgery, where we drill a hole in the skull and we put electrodes right into the brain. And so that gives us an even more precise localization of where the seizures are coming from. So that's typically a step we will do even before we consider surgery.

Interviewer: And you mentioned some of these outcomes are like a 50% reduction. Generally, what is the reduction in seizures that a surgical procedure can offer? And then, you know, if there still are seizures, how are those addressed going forward in the future if, you know, an individual is resistant to medication, is not able to control it with medications?

Dr. Richards: Yeah. So this is why we like to get to people early because the data has shown . . . so let's say you have a patient with medically refractory epilepsy and you continue to try to treat them with different medicines. Only about 8% of those people will become seizure-free. Versus with surgery, about like 65% may become seizure-free. So that's a great difference in terms of seizure freedom. And you can even imagine, if people don't become seizure-free, they'll at least have a significant seizure reduction.

So the big thing to know is that people who go through epilepsy surgery, it's not an alternative for medicines. So these people will, generally, remain on medicines to make sure that we control the seizures. It just means that they might be on less medicine, which is great because medicines can cause side effects, it might not need as much. So that's an important thing to clarify for people because people think they can just get surgery and come off everything. But we do have to keep people on medicines to give them the highest chance of seizure freedom.

Interviewer: And I'd imagine it varies from all the different types of surgeries because, you know, you mentioned some actually require the skull to be open, which I even have a hard time even saying. That sounds a little scary. And then there's some of the more non-invasive procedures. What type of recovery could a patient look at after receiving surgery?

Dr. Richards: Yeah. So for the invasive ones, where you have like either . . . the invasive one is really like the lobectomy. And for that one, I would say, you know, in terms of like people who are in the hospital, they're only in the hospital for a few days, but usually it takes like about a month, I'd say, to fully recover from that surgery. In terms of for the neuromodulation procedures, the patients usually go home the next day and there really isn't that much of a significant recovery, people do really well.

Interviewer: I don't know if a question is going to come out of this or not, but listening to you talk about just the process of diagnosis and then the process of treatment, just how incredible is all of it that we can do any of it, right? That you have the equipment and the expertise and the training to be able to go in and pinpoint where this problem might be in the brain and then be able to go in and do something about that. I mean does that resonate with you on any level whatsoever or is it just something you do at this point?

Dr. Richards: Yeah. So that's why I fell in love with epilepsy. You know, going through neurology residency, we do deal with a lot of different devastating conditions. But for epilepsy, I really felt like there was something we could do and something we could offer. And the surgical options for epilepsy is really what brought me into this field because I felt that it was just amazing that what we could do and the different devices, and I think we're continuing to kind of develop more and more things that are going to be on the horizon. Like, 10 years ago, it wouldn't have been an option for this patient to have gotten that surgery and she still would have been having seizures. So I'm continuing to be hopeful that, down the line, we're going to have a lot more options, especially for our generalized patients because these people don't have a lot of surgical options at this point.

Dr. Clardy: Hi, I'm Stacey Clardy, Associate Professor of Neurology at the University of Utah. I'm excited today to talk with Stefan Pulst for our series on where cures for brain diseases begin.

Stefan is the Chair of Neurology here at the University of Utah and has accomplished a tremendous amount in that role. But today I want to focus our discussion on his role as a very successful researcher in neurodegenerative diseases.

Specifically, Stefan, you are quite well known internationally for your work on a group of conditions called spinocerebellar ataxias. How did you find yourself focusing on this group of diseases? They are rare diseases. Did you seek out that area based on a lecture you heard early in your career or a patient you had seen? Was there some sort of existing project? How did you settle on the spinocerebellar ataxias for your particular research questions?

Dr. Pulst: Well, it was a typical L.A. story. I was Chair of Neurology at Cedars-Sinai at that time, and I got a phone call, a phone call from a colleague at UCLA, who recalled that, as a resident at Columbia University, he had seen a family that had a very unique distribution of age of onset of a particular neurodegenerative disease. It appeared to happen earlier and earlier in each subsequent generation.

And it's hard to believe today, but in the late '80s, I was one of the few neurology geneticists in Los Angeles. So that's why he called me. And I said to him, "I've never seen a genetic disease that I don't like," and we decided to fly out to New York State and examine that family, obtain DNA samples. And then my search began to find the actual mutated gene that caused this disease that we now call SCA2 or spinocerebellar ataxia type 2.

Dr. Clardy: And this is sort of unique and really, I think, drives home the point of the value of a clinician scientist, right, because you're both a scientist but also were able to come see the patients. You're a physician. You're able to examine them and get a sense of what was different about this, highlighting, I think, what's unique about academic medicine is that you serve in both those roles. And, of course, that was pre-Zoom era, so you had to fly out there.

Dr. Pulst: We had to fly out there. And we learned a lot from the patients. Part of cerebellar disease is that you are uncoordinated in your gait. And so one of our measures was to ask people to basically walk a line, like a police officer would do when they pull you over. And we had one young woman who we asked to come back and do the test again. And she was very concerned that she might actually have inherited the disease. And we later found out that she did. She was just a bit clumsier than some of her other family members. So when one learns a lot, and I think that, you know, I've been in this business now for 40 years, what I enjoy about it, going back and forth between lab and the patient and then back from the patient back to the lab, asking the questions.

Dr. Clardy: And you just hinted at what I was going to ask you next, which is how long have you been studying this condition? I think we somehow read a news release about an exciting research finding and we think that it happened in the last six months. So tell us when you started. How long has it really been?

Dr. Pulst: So we flew out to Syracuse, New York, in the late '80s and collected DNA samples. And then, for the next six years, we tried to identify this gene. And although this can be much faster today, this was a time where the genome was not mapped. We made different kinds of maps, maps based on distance and on location. And finally, in March 1996, we identified the disease gene that is now called ATXN2. All the ataxia-causing genes have numbers now. And we found out that it was a very unusual mutation, actually a mutation that was dynamic. It did not remain stable, and in the end that explained this phenomenon of having earlier and earlier disease onset in subsequent generations.

Dr. Clardy: And so what I heard you say was it took a long time to find the mutation. So what have you been doing on that mutation in that ensuing 25 years? Right? You get to discover what the problem is, and then what's next?

Dr. Pulst: Yes, and quite right. We thought climbing the Everest was finding the gene. That there was a lot of glory to be had to find the gene, and then somehow the therapy would just fall into our lab. And now we just know that we were in the hills leading up to Everest. Everest was really finding therapies. And for really a decade, maybe even two decades we and others spent our time trying to understand what this disease gene actually normally does, assuming that, when it's mutated, it has something like a deranged normal function.

And really, for me, the change came with moving to Utah in 2007. We decided to completely refocus and target the mutated gene itself. After all, that's the first cause, the primary reason why patients develop this particular disease, a DNA change happens. And we thought, if we can somehow quiet this disease gene down, then we would have a path forward. And that's what we have been doing since 2007. And you're quite right, that is still 13 or 14 years ago, and it has taken us that long to develop a gene-directed therapy.

Dr. Clardy: Wow, that's incredible. And I want to back up a little bit before we get to talking about the therapy that you're working on. The mutation you found, tell us more about this class of conditions, the spinocerebellar ataxias. What do all the patients look like? Are they similar? Are they different? How many different types are there?

Dr. Pulst: Yes. So the patients with ataxia share a certain presentation. Most of them present with gait instability that then progresses to affecting their speech, their reaching movements, their stance, their eye movements, and sometimes also their thinking. So these are really neurodegenerative diseases. They share some features with other diseases, such as Huntington's disease, but also with diseases like Lou Gehrig's disease or motor neurone disease. So they really fall into the larger group of neurodegenerative diseases.

We have about 50 SCAs, spinocerebellar ataxia, so at least 50 genes or gene locations that cause dominantly-inherited ataxias. These diseases are called polyglutamine diseases because a repeat that normally codes for the amino acid glutamine, it now expands and causes very large stretches of glutamine that misshape the protein, misform it. It tends to aggregate and cause disease.

Dr. Clardy: So unlike some other neurologic diseases that are caused by, say, missing a piece of a chromosome or a deletion, in these spinocerebellar ataxias, most of them, it's really all the DNA is there, but there's extra and it's repeated. Is that right?

Dr. Pulst: That is correct. It's repeated and it's repeated in a part of the gene that directly codes for a protein, so it has a direct effect on the way this protein is formed, the way it behaves. And as we now know, these repeat expansions cause the proteins to aggregate and really cause havoc in the cell.

Dr. Clardy: And I think what you're not saying is that a lot of this was not known. And certainly 50 different types were not known when you started this area of research. And you're saying that family had SCA number what?

Dr. Pulst: Number 2.

Dr. Clardy: Wow, so early on.

Dr. Pulst: Yeah, actually, in Utah, we are working on finding the mutation for a disease that is very common in Utah. It's called SCA4. So it was mapped to a chromosome a long time ago, but it has been very difficult to find the actual mutation causing that disease.

Dr. Clardy: So SCA4, the fourth spinocerebellar ataxia to be discovered is actually common in Utah. I didn't know that. Can you tell me more?

Dr. Pulst: Yes. So this disease was originally described and mapped to chromosome 16 by a former faculty member here at the University of Utah, Dr. Kevin Flanigan. And when we came, we took this off and we realized it is a family, a gigantic family, with more than 1,000 members actually. And we traced them back. The individuals were early pioneers. Actually we know that they were born in the 19th century, came from Scandinavia to Utah. And it's a disease with late onset, so people have a normal number of children. And we have now mapped the disease more precisely to chromosome 16.

What we have also found out, that other families, that we became aware of, there's a smaller family in the U.S. state of Georgia, and we were able to map them genetically but also by family records back to southern Sweden. And we actually found out that the family in Georgia and the family here in Utah come from two villages in southern Sweden that are about 10 miles apart. And there appears to be even a link between them, a man who was an oiler, he oiled machines and he may have had relationships in these two villages.

Again, it's a neurodegenerative disease that affects mainly the cerebellum, so patients have uncoordinated gait. But, interestingly, it has other effects as well. They develop a very significant sensory neuropathy. So what that means is they cannot quite sense where their toes and ankle and their fingers are. So they really have to deal with double damage. Both the feedback from the joints is not correct, and then the part of the brain that should coordinate all this information, the cerebellum is also defective. We are now pretty certain that it's not a simple mutation. It is likely a complex rearrangement on chromosome 16 that has made it difficult to pinpoint down what the precise mutation is.

Dr. Clardy: Wow. So just one of the other . . . I know we only touched on a couple areas of research in your lab, but this is obviously another one. And I love so much of what was in that story. One, the power of genetics, that we can trace back history now. But, two, I think you and I talk about this frequently, both being sort of transplants who came here to work at the University of Utah, but just the power of the recordkeeping and the ancestral records and the Utah population database, how the original settlers continue to give us information to push the science forward. It's such a fun part of working here in Utah.

Dr. Pulst: Yeah. And to give our listeners a bit of a visual image, usually, when you draw a family tree, a pedigree, you know, it fits on a sheet of paper quite easily. In this SCA4 family, we have like a papyrus scroll because it is so enormous. And actually, when we unroll it, it goes across my office. It's quite remarkable. And it was really thanks to one particular patient who contacted family members and made this pedigree. And it extends from Idaho and Wyoming all the way to Arizona through Utah and to California.

Dr. Clardy: That's fantastic. And we have so many of those patients here who are really driving their own science. It's wonderful, right?

Dr. Pulst: Yes, it's great. And the family is very involved, and we owe it to them to find the genes. So we are trying to work as hard as we can on using some of the most modern gene-sequencing technologies. And at this point, as of today, we have not found the mutation. So we still need to examine more patients and hopefully narrow also the location on chromosome 16 even further.

Dr. Clardy: Wow. So a lot of areas of research going on in your lab. I want to switch back a little bit though. You started to allude to this. Your lab has developed what's called an antisense oligonucleotide as a therapy, potentially, for one of these types of spinocerebellar ataxia. And, as I understand it, this has actually also led into a potential treatment for Lou Gehrig's disease or amyotrophic lateral sclerosis. But can you tell us what is an antisense oligonucleotide and how might it work in this disease?

Dr. Pulst: So this goes back to the refocus on targeting the actual cause of the disease, the primary cause. And that's the faulty gene that then leads to a faulty molecule that we call "messenger RNA." It's a molecule that takes the message of how to make proteins from the nucleus into the cell body, into the cytoplasm, and then specifies how a protein is made.

So, as I said, there's an expansion of a DNA repeat, which means the mRNA, the messenger RNA is expanded and the protein has an expanded polyglutamine domain. So we thought, "Why don't we try to attack the faulty messenger RNA and make a molecule that is complementary to this messenger RNA, it binds to it?" And then, what the cell does is actually, when it sees a new molecule made out of a messenger RNA and a piece of DNA, it actually targets this new artificial molecule and destroys it. And that's really the basis of these antisense oligonucleotides. They're called antisense because they are complementary antisense to the messenger RNA. And the oligonucleotide just means they have between 18 and 22 base pairs, so they're much shorter than a long messenger RNA.

And then, when this happens, an enzyme comes in, chops up the messenger RNA, so it's not present anymore. The antisense oligonucleotide is released and can undergo another round of binding to messenger RNA. So, with modifications, these new molecules are very stable and can be effective for therapy.

Dr. Clardy: And if I'm understanding what you're explaining correctly about this mRNA approach, this could really potentially be used in people who are known to have inherited the mutation but aren't yet having symptoms. Is that right?

Dr. Pulst: Yes. Yes, that's actually our hope for genetic disease to target diseases as early as we can. It just makes the point for our listeners that it's important to ask your neurologist to really get to the basis of a disease, to get to the correct name of the disease. And sometimes that means being referred to a specialist who really lives with these diseases and knows a lot about them.

Dr. Clardy: You make a really great point there, which is it's one thing to treat the symptoms, but perhaps the strength of the University of Utah or other academic medical centers too is that while we're treating the symptoms, while we're addressing where the patient's at, we also want to know what caused it in the first place. And your lab is, obviously, one of the extreme examples of that where you've actually found the mutation. So what phase of trial or study is this antisense oligonucleotide in right now?

Dr. Pulst: Okay, let me step one step back because it's important to realize, when I said that these ataxia sometimes are really neurodegenerative diseases that affect other nerve cells as well, and we recognized, just by seeing patients, that some of them had characteristics of Lou Gehrig's disease or amyotrophic lateral sclerosis. So, clinically, we saw that there appeared to be a connection between SCA2 and ALS. A colleague and friend of mine at Stanford, Dr. Gitler, then discovered molecularly a link between SCA2 and ALS.

So when we drove the development of this antisense oligonucleotide to ATXN2 forward, we partnered with a pharmaceutical company called Ionis and developed this initially in mouse models of ataxia but also in mouse models of ALS. And this molecule, the best one we identified in mouse studies and in studies in non-human primates, has now gone into a Phase I trial in ALS patients. And the reason it's in ALS patients, this is a more dramatic disease, very often, unfortunately, leading to death in three to five years, in some patients even earlier. And there are more ALS patients than SCA2 patients. So the dose finding study, knowing how much of this ASO to inject, is done in ALS patients. And a few patients have been injected so far with this new compound.

Dr. Clardy: It is very exciting, and it is really . . . you know, the neurodegenerative diseases are sort of the last frontier in neurology, right? They have, historically, hit a wall when it came to trials. And it sounds like your work and obviously the work done in other conditions and using antisense oligonucleotides is really the most exciting thing to come around in our entire generation.

Dr. Pulst: I agree. I think it's remarkable that really this dream of finding the genetic causes of disease actually now is leading to therapy. And I think another point is that even if you work on rare diseases or very rare diseases, if you pursue it, you may obtain insights into more common neurodegenerative diseases, as this connection between ALS and spinocerebellar ataxia type 2 shows.

Dr. Clardy: Well, I know certainly when I see patients in our shared clinics who have a neurodegenerative disease, I really love telling them that, just down the hall, you're doing work on this and you're making progress. But I want to know what advice do you have for patients who are diagnosed with neurodegenerative diseases?

Dr. Pulst: I think the first line of advice is try to really find out what your neurodegenerative disease is. Does it have a name? Does it have a genetic cause? And that often requires to go to specialists or sometimes, as I call them, sub-specialists or sub-sub-specialists who really know about the disease. It is still true that there are actually very few ataxia specialists in the nation. And patients fly to Utah as they do to other ataxia centers to find the right diagnosis.

Genetic testing these days is less expensive than getting an imaging study. And insurance companies are slowly learning that it's the right way to go and to support these tests.

The other general piece of advice is be part of clinical trials. I think we know that patients do better when they're in clinical trials, even if they just "get the placebo." So you get to see specialists. You get followed up. People take great care of you. So I think that's the other one.

Dr. Clardy: Well, thank you, Stefan. Again, I've been speaking with Stefan Pulst, our Chair of Neurology here at the University of Utah, on his groundbreaking work on spinocerebellar ataxia and the possible translation over to amyotrophic lateral sclerosis as well. To learn more about his research, to support the lab, or any of the many, many research projects and labs here at the University of Utah, you can just go ahead and google "University of Utah neurology" where you'll find links about all of the ongoing departmental activities and information on how you can become involved.

Interviewer: New surgical procedures can potentially change the life of children that suffer from epilepsy. We'll talk about that next on The Scope.

Announcer: Health tips, medical news, research, and more for a happier, healthier life. From University of Utah Health Sciences, this is The Scope.

Interviewer: New advances in surgery for drug-resistant epilepsy have the potential to improve many children's lives in a lot of different ways, but yet many kids who would benefit don't get it. Those that don't get these treatments oftentimes get worse. In this episode, we're going to find out more about new evidence and benefits of pediatric epilepsy surgery. And to find out more, we're talking to Dr. Matthew Sweney, he's the Medical Director of the Epilepsy Program at Primary Children's Hospital, and the Surgical Director of the program, Dr. Robert Bollo. Thank you very much for joining us today.

This is exciting stuff. So the first statement that really kind of intrigues me is, when it comes to surgical options to help children with epilepsy, many kids that would benefit from it don't get it. Why is that?

Dr. Sweney: Well, there's an entity in pediatric epilepsy that we call the treatment gap, and that is the gap from getting kids the appropriate care that they need for the severity of their epilepsy. And the treatment gap is a global phenomenon and one that we deal with locally, and it's held to a very specific standard as to when you become drug-resistant in dealing with your epilepsy. And that's a global standard in which two to three typical seizure medications are failing and you continue to have seizures.

Interviewer: And what's happening? So people are going beyond that?

Dr. Sweney: Yeah.

Interviewer: They just keep trying other things as opposed to going to the next steps?

Dr. Sweney: Yeah, there's a sense of somewhat of despair in which medication after medication is tried. And statistically we know, as epilepsy care providers, that when you fail two, sometimes three medications, the likelihood of any of the additional medications, which currently is around 12 to 15, the likelihood of any of them doing any significant benefit in regards to seizure control is low single digit probability. So it's a global standard set by the International League Against Epilepsy, which is kind of the international governing body in epilepsy management that says, if you fail two to three medications, you should seek more advanced care through a dedicated epilepsy program.

Interviewer: And this isn't happening. People aren't seeking more advanced care. Why is that?

Dr. Sweney: Well, there's a disconnect. A lot of care is provided by folks that aren't necessarily familiar with the details of epilepsy care and the different tools available. And so those outside of the area of a large center, like our own, might find that their doctor is telling them to just continue to try seizure medications one after the other, so that five, six, seven are tried and failed, and they just assume that this is the best that it's going to get.

Interviewer: And then after some medications are tried, there's like a process that you go through to help treat children with epilepsy, right? It starts out least invasive and then builds up to surgery, which can be very beneficial and we'll talk about here with Dr. Bollo in a second.

Dr. Sweney: Yeah, absolutely. It's a fairly set approach to what you do under the circumstances of drug-resistant epilepsy. There's cornerstones to the evaluation that consist of a really long EEG, which is a brainwave test used to characterize where the seizures are coming from. There's imaging that's involved to identify any structural abnormalities to the brain. And from that point, we can then determine what are all the options available in dealing with that epilepsy.

Interviewer: And there's new evidence out there that actually says that surgery is a really effective option, like you've known that it has been for a while, but just within the past month of the recording of this. Tell me about that new evidence, Dr. Bollo.

Dr. Bollo: Yeah, so thank you. There was a new study published in "The New England Journal" about a month or so ago that is really the first class one evidence we have for pediatric epilepsy surgery. And it was a large center in India actually, where they typically have a long waiting list for surgery, and they randomized children with all different types of epilepsy. So a very real world type study, all different types that might come into a center for either surgical treatment or to continue medications for 12 months, which had been their standard of care. And they found a significant difference in not only seizure freedom but benefits to children across multiple domains, including quality of life, behavioral health, and cognitive function, who got surgery. And in general, patients who continued on medications either got worse or stayed the same. At the end of the study, they had about 77% of patients who met the criteria for seizure freedom at a year in the surgery group compared to 7% in the medical group.

Interviewer: Wow. And if you're a parent with a child with epilepsy, that's significant.

Dr. Bollo: Yes.

Interviewer: Or if you're the child with epilepsy, right?

Dr. Bollo: Absolutely. And children who had surgery, their quality of life improved, their behavior health, their conduct, all of these things tended to get better across that population. So I think that's a very important study that sort of reinforces what we've known for a long time but really shows a significant degree of clarity and resolution that not only is continuing to have seizures bad for the developing brain, and surgery is certainly scary, but it's actually quite effective.

Interviewer: So surgery could lead to a much better life for that child, but not getting surgery could actually be bad as well. I think we tend to think not doing something means status quo, but that's not the case with epilepsy.

Dr. Bollo: It's not, especially in the developing brain, so especially in a child. There's clearly loss of function across those same domains of behavioral health, quality of life, and cognitive function with persistent seizures. We often talk about epilepsy as a disease that's bimodal. It's the old and the young, and it is much more common in children than in adults. And in children, it's much more common in very young children compared to older children. So it's really a disease affecting the brain that's trying to develop.

Interviewer: So coming back in a real world situation, if you have a child that has epilepsy and you've gone beyond this treatment gap you talked about, if you've gone beyond the two or three medications, which research shows after you've tried two or three, is that correct, that odds are the other 18 or whatever else might be out there is not going to be effective, that that could be a detriment if you then decide, "Well, let's try some more medications."

Dr. Sweney: That's true. We know it's almost like a glass ceiling when it comes to epilepsy therapy that, two-thirds of the time, a combination of two to three medications can stop seizures. That leaves a third of the time that's not going to stop, despite any attempt at further anti-epileptic medications. So, I mean, the treatment gap, from our standpoint, for practitioners out there and families out there who are dealing with epilepsy early in the stages of the disease, to know what the resources available are and to know what the next steps should be and to not be complacent and to not just accept the status quo.

Dr. Bollo: And I would agree with that and I think we need to acknowledge that surgery is extremely scary. All of the time, families come to us and they say, "But I don't want memory loss, and I don't want the prospect of visual loss or a loss of an essential function like motor function." And that's very important, and I think a big part of the psychology that has led to this treatment gap and leads to long delays in getting access to surgery. And so I think we see it as our responsibility to come up with better and better ways to do surgery, less and less invasive ways, in order to do it in a way that is less risky, less morbid, gets kids home, back to school, and back to regular life as quickly as possible.

Interviewer: Yeah, because that could be scary, right, thinking about your child having their brain operated on, that's a terrifying thing. And some of this new technology, it's very high-tech, robots, lasers. I was reading a description of one of the procedures, image-guided endoscopic surgery, which is that surgery that needs just a small little hole that you can perform complex brain operations for the treatment of epilepsy. And that's what you do. Talk about some of these treatments, help us feel more comfortable with them and where they've come.

Dr. Bollo: Yeah, no, thank you. So I think if you think about 10 years ago how we did things was we would often do very large craniotomies, very large exposures of the brain. And there are three kind of main reasons to do that. Number one is, because oftentimes, an EEG, a regular EEG that you think about on the scalp doesn't have good spatial resolution. It's hard to target the structures and figure out exactly where that seizure is starting in the brain. So oftentimes, we have to put electrodes in the brain or on the surface of the brain to get better spatial resolution, better maps.

Another reason might be to map the functional cortex, where is motor function, how does my hand move, where is sensation, where is vision, where is language function within the brain in this child. And especially if the seizure's coming from areas that are close to that, we need those different maps to do things safely.

A third reason is obviously resecting the epilepsy focus or removing the cause of the seizures. So to take the first one, we've gone from doing large operations and putting large electrode arrays on the surface of the brain to robotically placing depth electrodes that are very carefully targeted to different areas of the brain and different functional circuits within the brain, all through tiny little stab incisions. So we can put up to 18 or 20 electrodes, each of which has about 10 contacts on it, through these methods, using computer technologies and robotic technology very safely and very quickly. And then when we take those out, the kids can go home the same day.

Interviewer: Isn't that kind of amazing?

Dr. Bollo: It is amazing to see.

Interviewer: I mean, really?

Dr. Bollo: Yeah. I think families are blown away when they go through it. And I'm like, "Okay, you can go home," and they're like, "Really? How long do I have to stay out of school?" I'm like, "You don't."

Dr. Sweney: Families are routinely kind of astounded with what we tell them is kind of the expected recovery with these. They're expecting weeks to months of being incapacitated, just because surgeries 30 years ago would have that. But, you know, this isn't 30 years ago.

Interviewer: And things are only getting better. I remember when I had my tonsils out a long time ago, I was in the hospital for a couple of days, right. And I don't know if that's still the same but that just is amazing, compare and contrast that.

Dr. Bollo: Yeah, so a large, big opening on the side of one's head to multiple, just little incisions closed with a single stitch that'll absorb over time and right back home and right back to school.

Interviewer: And with pinpoint accuracy, being able to know exactly where you need to target the surgery and where the trouble spots are to avoid them so you don't cause no harm, yeah.

Dr. Bollo: Absolutely.

Interviewer: What's the next step for somebody that wants to learn more? I think that hopefully this conversation has maybe helped people overcome a couple of things. One, the treatment gap, realizing there is a set continuum of treatment, steps that you take, "If this one doesn't work, we're going to move to the next one, we're going to move to the next one." If you don't move down that, it could actually negatively impact your child. If you move along it, it could make things much better. And then the other thing is just becoming more comfortable with the technology and surgery, that it's maybe not the scary thing.

Dr. Bollo: Yeah, I think that our responsibility as providers, and our team takes that very seriously, that we need to make surgery safer, less risky, and easier on kids, and this new technology that we have facilitates that. And so we try to bring it together in a synergistic way and offer as minimally invasive a surgical treatment as we could have for any given child in any given situation.

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Interviewer: Do you suffer from restless legs or you think you might? Well, we're going to talk about that next on The Scope.

Dr. Chris Jones is a neurologist and a sleep and movement disorders expert. And today, we want to dive into the topic of restless leg syndrome. Dr. Jones, let's start off first of all, what is restless leg syndrome?

Dr. Jones: Nobody really knows.

Interviewer: Oh, that's going to make a tough conversation today.

Dr. Jones: But every person with restless legs knows how bad it can be and that it's real even though there are no physical signs of illness.

Interviewer: Okay. So you could do all sorts of physical examinations and you wouldn't find anything with somebody reporting restless legs at night?

Dr. Jones: Exactly. It's easy for your doctor to overlook this.

Interviewer: Okay. So what do most patients report as the symptoms that you would define as restless leg syndrome?

Dr. Jones: An urge to move the legs particularly in the evening, usually it's below the knees. It's very difficult to describe what this is because it's not an itch, it's not a pain, a numbness, tingling or cramp. All I can tell you is it's very frustrating, and it gets worst in the evening, just when they want to fall asleep. There's a wide range of severity of restless legs symptoms and, to an extent, it may just be part of the human experience to have a little of this.

Interviewer: Yeah. If somebody does have it, what would they do about it?

Dr. Jones: First of all, they would find the nearest sleep center that advertises experience with restless legs syndrome, because it is very difficult to treat and very easy for the doctor to make it worse.

Interviewer: Okay. Is it usually one expert, or is it kind of a multidisciplinary team, an interdisciplinary team I should say?

Dr. Jones: It gets interdisciplinary when the restless legs facilitates the development of a chronic insomnia that's quite apart from the restless legs but instead is a learned inability to fall asleep at night.

Interviewer: So what could start out as just a physical sort of manifestation of the symptoms could then turn into a mental manifestation affecting your sleep?

Dr. Jones: Exactly.

Interviewer: And is that when most people tend to seek help when it's affecting their sleep, or should they come to you sooner than that?

Dr. Jones: Yes, they should come as soon as it's making an impact in their life, because the older you get the harder it is to treat.

Interviewer: Oh, okay. So when you first started noticing those symptoms you would find somebody, such as yourself, that is an expert in this sort of thing. And then what would that appointment look like? How do you track down a condition that is not easy to track down?

Dr. Jones: You should expect and request a thorough history rather than emphasizing the physical exam, that's number one. Number two, you should expect them to ask for a positive family history of leg problems at night. And if you're a female and there's any reason that you might be iron deficient, you need to have your iron status measured because low iron, even slightly low makes restless legs a lot worse. Iron deficiency is a major exacerbator of restless legs.

So if you are donating blood in any fashion to your hospital blood bank, to the fetus that's in your womb, to heavy menstrual bleeding, then you are at much higher risk of restless legs. And you may need your iron level bumped up, whatever it means, so the treatments can be a little more effective.

And then the physician should ask you what medications, including over-the-counter medications you take, because over-the-counter antihistamines and many antidepressants actually make restless legs worse. And, of course, restless legs tends to lower moods, so people tend to get on antidepressants, so we have a vicious circle there.

Interviewer: Is there a cure for restless legs syndrome, or can you just manage it as best you can?

Dr. Jones: Not only is there no cure, but it's very easy for physicians to make restless legs worse. Prescribing a category of medication called dopamine agonist, it slowly makes the brain have even more restless legs, which requires higher doses which makes the legs worse. And this can take a long, long time to resolve after stopping the dopamine agonist. So rule number one is do not, with all due respect, do not let your primary care provider try to treat this. This really is a complicated, difficult sleep medicine problem, and you should go to a sleep center that has experience with restless legs.

Interviewer: And out of the patients that you see with restless legs syndrome, what percentage find some relief?

Dr. Jones: Well, I think most people find some relief early on in treatment. But again, the best medications we have gradually make the symptoms worse. And when those medications fail, the backup are opioid drugs, and those are potentially addicting. They can cause shallower breathing in sleep. And so, again, you have to be working with a sleep center that understands these things and will keep you safe.

Interviewer: And we still, I'm going to try you one more time. We don't know what causes this.

Dr. Jones: There's only been one genetic alteration that's strongly related to restless legs, but we do not have right now as a clear picture of all the genetics of restless legs and how that might inform a more fundamental cure for this.

Interviewer: And do we know if it's neurological or physical?

Dr. Jones: This is definitely neurological, and it's been linked in mice to a part of the brain where dopamine and leg movements are coordinated.

Interviewer: So after you see a sleep specialist and they are able to help you manage your restless legs, if you're still encountering insomnia, what should you do at that point?

Dr. Jones: At that point, you may well have a learned chronic insomnia, and cognitive behavioral therapy for insomnia is far and away the cheapest, the safest, and really the most effective over the long term. Unfortunately, there are not very many cognitive behavioral therapists for insomnia out there so you have to hunt around for a sleep center that has one.

updated: April 13, 2022
originally published: May 3, 2017

Interviewer: Yesterday, Mom remembered exactly who you were, and today, she doesn't even remember your name. How to deal with a parent's memory loss, coming up next on The Scope.

Announcer: Medical news and research from University Utah physicians and specialists you can use for a happier and healthier life. You're listening to The Scope.

Interviewer: We're talking today with Kyle Bradford Jones, a family physician at the University of Utah. The topic of memory loss in a parent is something that not many people talk about because it's really emotionally difficult when your mom or your dad suddenly just doesn't remember who you are and you're kind of a stranger to them. Emotionally, how stressful is that, do you think?

Dr. Jones: Oh, that's huge. Like you mentioned, that's really hard for all of us to handle that. And with memory loss in our parents or in the elderly, it's kind of what you expect, what's called cognitive aging.

Interviewer: So are there specific signs or symptoms to look for in Mom or Dad as they are losing their memory? Are there emotional signs? Are there physical signs? What can you look out for?

Dr. Jones: As we age, like you said, we tend to lose a little bit of our memory. Sometimes, we lose what's called executive function, so our organizational skills, handling finances, losing our train of thought, and this is fairly common. Now, this tends to be worse in stressful or uncomfortable situations or even situations where it's fast-paced, things like getting on the freeway while driving.

One of the other ways that memory loss comes on is through delirium, which basically is an abrupt onset of confusion, behavioral outbursts and sometimes what's called sundowning, where this tends to get worse at night. As you get more disoriented, it's darker. And these are usually caused by things that can be reversed, so medications, infection, very commonly, a urinary tract infection or a change in environment.

Now, the one that we're all scared of is dementia. Alzheimer's is one form of dementia, but there are multiple ones. How dementia is different from these is it's very similar to cognitive aging, but you also add that you lose some of what's called your activities of daily living. So you lose the hygiene ability to shower or brush your teeth. You lose basic housekeeping. Sometimes, you become disoriented. Like you say, you may not recognize people because you think it's a different time in your life.

One of the biggest things to watch for and one of the first things that you can notice, look at their finger and their toenails. Are they able to trim their nails? If it's your mother and she always painted her nails, has that changed? That's one of the first things to go and so that's a big one that you can just keep an eye on.

Interviewer: So, obviously, as a caregiver, I'm seeing the frustration in her eyes when she doesn't remember who I am. Obviously, I am emotional and distressed, but how do I help her through that?

Dr. Jones: It can be very difficult. Offering some of that emotional support is a big thing. Coming frequently, if they see you once and can't quite remember you, it does better if you come multiple times and kind of get that repetition. Now, if they're not quite to that extent, different supports you can do, as we age and lose some of our memory are reminders of appointments or different things that you need to do, whether that's in person or over the phone or setting alarms to help remind them to do things.

Making lists so that they can refer back to that makes a big difference. They feel a little bit more independent and in control and are able to kind of overcome some of these changes in their memory. Other things, exercise and diet are huge. That increases the blood flow to your brain and makes a big difference with how your brain is functioning and how well you can handle your memory as well as some of this functional loss. But also controlling any health problems they have. If they have high blood pressure, if they have diabetes, making sure these are controlled makes a big difference.

Interviewer: You mentioned earlier that coming in to see your parent as they're losing their memory really helps them remember you better. Is it a good idea to maybe have Mom or Dad stay with you then at that point? When you see them on a regular basis, on a daily basis, does that help or is it just safer to have them with a health expert at that point?

Dr. Jones: It certainly can help. Obviously, many children are caring for their parents as they age and go through dementia and different things. And that takes a huge toll on the caregivers because it's basically a full-time job. And so that definitely can help in terms of orienting them and trying to bring them back to the time that they're in.

However, once the disease progresses, it won't necessarily do much. Basically, in terms of deciding when they should go to a nursing home or other assisted living type of situation, it's almost based more on the caregiver or the child. If you get to the point where you simply cannot do this anymore, whether it's physically, emotionally, financially, it's a good time to try to get them into a more controlled environment.

Interviewer: So coping with a parent's memory loss obviously is not an easy thing to do. Does it ever get better?

Dr. Jones: In some ways, that burden is never quite lifted off the children because you're concerned about your parents. Obviously, they did so much to raise you that you feel that obligation to care for them. And especially if you move them to someplace like a nursing home. Sometimes, that feels like failure, but there's only so much you can do. It is not a failure, and sometimes they need that extra support, and so once it gets to that point, even though it's emotionally difficult, it can be very important for them to get the care that they need.

Announcer: TheScopeRadio.com is University of Utah Health Sciences radio. If you like what you heard, be sure to get our latest content by following us on Facebook. Just click on the Facebook icon at TheScopeRadio.com.

Interviewer: When you're a younger stroke victim it presents a whole different set of challenges than if you are older and have a stroke. Amy Steinbrech doesn't consider herself just a stroke survivor she considers herself a stroke thriver. We're going to talk to her next to find out what it was like when the stroke hit, when she realized her life was going to change forever, plus advice for other young stroke victims coming up next, on The Scope.

Announcer: Medical news and research from University of Utah physicians and specialists you can use for a happier and healthier life. You're listening to The Scope.

Interviewer: We're talking with Amy Steinbrech. She's a stroke survivor here on The Scope Health Sciences Radio. Amy thank you for taking time to join us today.

Amy: You're welcome. Thank you for inviting me.

Interviewer: So tell me, when did your stroke happen, how many years ago now?

Amy: It happened 22 months ago. It happened...

Interviewer: Twenty-two months, wow.

Amy: Yeah.

Interviewer: How exactly did it come on? Did anybody know when it was happening? Tell me about that.

Amy: Well it happened when I went out to the car to start my car. And I realized kind of a dÈj‡ vu feeling, that only lasted a split second. So I didn't think much about it. But was in the left side, when a stroke occurs on your right side, the left side of your brain is impacted. So I went back inside and watched a movie with my family. And then went back home to my sisters house in Lander, Wyoming. And went to bed and then I woke up in the middle of the night to use the restroom. And I went to turn the light switch off and my mind didn't register where on the wall the light switch was. So at that point I was still able to walk. So I walked back to the bedroom and drifted in and out of consciousness.

And about 8:00 that morning my sisters, they wondered why I wasn't up because I'm usually an early riser. So they came to check on me and what they found when they opened the door terrified them. I was barely conscious, not able to walk, talk or anything.

Interviewer: And from your own experience, the only indication that something was weird was that momentary bit of dÈj‡ vu and then the fact that you recognized your brain wasn't quiet computing where the light switch was.

Amy: Exactly.

Interviewer: And that was it. Is that common for most people? Is that the only sign you get?

Amy: Yeah, well sometimes there can be more common signs, like a headache. But mine was just that split second when the stroke must have happened.

Interviewer: How would a person even know? Because we all experience dÈj‡ vu, right? So why would you even think that that was... Obviously you didn't.

Amy: Yeah, I didn't, exactly.

Interviewer: Oh wow. So they find you, they take you to the hospital. What happened at that point?

Amy: Well I was brought to the hospital in Lander, Wyoming where my family is. And then the doctors at Lander Hospital immediately recognized that I had a stroke. So they immediately gave me the choices of to life flight me to Denver or University of Utah. Obviously I live here so University of Utah was a no brainer. So they flew me to the University of Utah and what I remember about the life flight was kind of in and out of consciousness, but I remember the air medic. My sister rode with me in the air medic and the air medic had the nicest smile I remember. He was just comforting and so reassuring, "You're going to be okay. We're going to get you taken care of."

Interviewer: Did you realize at this point that you'd had a stroke? I mean at this point you knew.

Amy: Yeah, I realized that it was something.

Interviewer: Because people told you?

Amy: Yeah, well I wasn't able... I didn't register, my mind didn't register what people were saying. But internally I knew that this was a big deal, typical more than minor accident.

Interviewer: Were you able to realize you couldn't move fingers or feet or legs or?

Amy: Yeah, exactly. And then we arrive at the airport in Salt Lake. They get me there and stabilize me at the University of Utah. And they run all the tests and do everything and get me stable. And then they immediately bring me up to the ICU room. And I was in and out of consciousness. But for a good day or so I don't have any memory of what happened.

Interviewer: And then what was your next memory?

Amy: My next memory was a couple days later I remember my mom reading to me, trying to get me to respond to things and I wasn't even able to talk or walk or anything. So that was her first attempt to get me to talk and my niece and nephew made a memory board for me. The speech therapist must have mentioned that a memory board would be helpful in recognizing the name and faces of family members.

So I remember the memory board very well in the acute care after the ICU. And constantly me pointing to a picture of my sister and saying, that's "Vicky or that's Sonia," and pointing to a picture of mom. And just to be able to recognize my family members.

Interviewer: Did it register with you at that point? Was there any sort of mental connection that that was mom and what that meant?

Amy: Yeah, yeah it did.

Interviewer: Oh okay. What was going through your mind at that point when you came to then?

Amy: Well, it was a long process. I was in the hospital for a total of six weeks. And basically in the ICU it was just a big blur. In acute care, a few things started to stick with me. And then the rehab unit is where my recovery really started earnest with Dr. Edgley.

Interviewer: When you when was the moment that you realized my life has really significantly changed?

Amy: Right from the ICU, right from the ICU a couple days after the stroke I knew I had a long road ahead of me to haul. But I wasn't going to give up and I was a determined person, a determined personality and I was up for the challenge.

Interviewer: How do you do that? In that same situation, I don't know that I could do that. I mean, how did you get yourself to that point? Or is that just inherently who you think you are?

Amy: Well to be any other way never really crossed my mind.

Interviewer: Yeah.

Amy: I get a lot of that stubbornness from my dad. And he never settled for anything, always pushed himself. Even after a heart attack and a brain aneurysm.

Interviewer: So it runs in the family. You've seen it.

Amy: Yep.

Interviewer: Because I think for a lot of people it'd be easy to go, "I don't know if I could overcome this." But that wasn't even a question. That's incredible.

Amy: Right.

Interviewer: So tell me about going through rehab then and what that process was like for you.

Amy: Well in the rehab unit I had speech, physical therapy, and occupational therapy. The three therapies. And I was in therapy for seven hours a day, six days a week. I guess usually they only have three or four hours of therapy. But I was constantly wanting more therapy, constantly wanting to push myself. And I was always up for extra time on the treadmill in between therapy sessions. Just to break for lunch, from 8 until 4, I was in therapy. And so therapy was hard. It was hard. I remember my speech therapist holding up a pencil and asking me to identify it. And it's like I looked at her and said, "Your guess is as good as mine."

Interviewer: You just didn't know what that was.

Amy: I didn't know what that was.

Interviewer: Wow. Did that happen with a lot of objects?

Amy: Yeah.

Interviewer: And a lot of things?

Amy: Yeah. Eraser, a pencil, a cup.

Interviewer: So you had to relearn a lot of that kind of stuff. Did that come easy? Were the connections made fairly easily and quickly after somebody held that up and said what it was or did it take time?

Amy: Well they were made quickly. I noticed the most dramatic improvement in physical therapy. From being guided along the guide post on the wall. To actually to graduating to a cane, to a gate belt, to today being able to go on seven mile hikes.

Interviewer: Wow. There are a lot of healthy people that have never had strokes that can't do that.

Amy: Yeah and speech continues to be my most challenging. I still go to speech therapy once a week and work with my speech therapist here at the University of Utah. They have a great graduate speech therapy program where graduate students work with you and I've been really blessed to get into that program. And this'll be my sixth semester there and just little things that still need a little bit of fine tuning I'm finding. They have deductive puzzles and advanced level things they have me working on.

Interviewer: Yeah.

Amy: And occupational therapy was, it progressed nicely. I still don't have total use of my right arm. And I'm constantly reminded by my mom that says, do you have a right arm?

Interviewer: Yeah.

Amy: In that way that moms only can say.

Interviewer: Oh and she's doing it because really you need to challenge yourself to use it in order to get the usage back.

Amy: Yeah and my fingers are a little bit stiff, so I have a problem typing. It's slow, but I still use both hands.

Interviewer: Gotcha. I want to step back here for a second. So after you got up and you started to try to walk for the first time and go through physical therapy. What's that experience like when your limbs aren't doing what you would expect them to do or your mouth's not doing what you want it to do?

Amy: It can be frustrating.

Interviewer: Yeah.

Amy: But I was very patient with myself. There was always the next hour of therapy or something that I couldn't do one hour, I could literally do the next hour. My therapy progressed that rapidly.

Interviewer: So that was fortunate.

Amy: That was very fortunate that it progressed that rapidly.

Interviewer: So you mentioned some of the ongoing things that you still go to speech therapy and you got to work on that right arm as your mom reminds you. What are some of the ongoing things? Is there ever an end when you're done?

Amy: I don't think. I feel like I'm about 95%, but there's that last 5% is obviously the hardest to come back. And I'm working hard, remaining very physically active and remembering to use my right arm. And just working hard in speech therapy. But I don't think you ever fully recover from a stroke. You can get about 99% but...

Interviewer: Yeah. What is it that you hope for in the future now?

Amy: Well I'm currently looking for employment. Yeah, that's my next obstacle to overcome.

Interviewer: And what kind of challenges are you facing there?

Amy: I haven't really been looking that hard yet. Doing volunteer stuff with the American Heart and Stroke Association and writing some freelance articles has kept me pretty busy. But if the right job comes up. I would ideally like to work for the health care system up here.

Interviewer: And why is that?

Amy: So I figured I'd be a banner client, in the public affairs department working for the University of Utah. I think I have a lot to offer.

Interviewer: Did your experience lead you to want to work in health care you think? Your stroke.

Amy: Yes, yes exactly. And just writing articles. I'm exploring options for writing articles for health related magazines and everything.

Interviewer: What was it about your experience that made you want to do that?

Amy: I think it gives me a unique insight to be able to share with other people and other stroke survivors and their families. I think it puts me in a unique position to give back in a unique way.

Interviewer: What advice would you give somebody who has gone through the same thing that you have, has had a stroke. And they're going through the same thing you did or you are currently going through.

Amy: I have two bits of advice. Is to never give up on yourself. You have to believe in yourself. And also to surround yourself with only positive people. No Debbie Downers allowed in my support network group. And a positive attitude. Positive attitude can truly work miracles and I'm a shining example of that.

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Interviewer: So I understand that you can get these deep brain stimulation kits and use them at home. Is that correct?

Dr. House: Folks are not doing deep brain stimulation at home yet, but they're starting to do what we call a direct transcranial electrical stimulation. So, essentially, they go to Radio Shack, get a 9-volt battery, you get a small adapter and it can put a small electrical current in between two pads that people then tape to their head at various locations.

Interviewer: Okay. Is this a good idea? I don't know. It sounds a little Frankenstein to me.

Dr. House: That's a great question. I don't endorse that. I don't do that myself, but it's an emerging field about what this could possibly do, both good and bad.

Interviewer: Why are people doing that? What do they hope to gain out of hooking electricity up to their brain at home?

Dr. House: I think folks have been doing this ever since the battery was invented essentially, with the idea of trying to augment certain abilities at different times or treat depression, for example.

Interviewer: All right. Is there any research that shows that this is okay to do at home or there is a benefit to doing it?

Dr. House: So this is where it gets complicated, of course. There is some research, there is a large amount of research using different amounts of electrical stimulation in the brain and even using some non-invasive stimulation. For example, using transcranial magnetic stimulation to differentially affect the brain.

Interviewer: Now, this something a doctor would do in his office

Dr. House: That's right, these are things that a doctor would do. And so there is emerging evidence about the utility of those procedures. But this low-current direct electrical stimulation that people are doing at home actually is now being formally evaluated in a few different instances. So there might be some benefits to it, but there is also some emerging literature that, for example, you can temporarily make your math abilities worse by putting the electrodes in the wrong location. So I wouldn't just try it willy-nilly at home yet.

Interviewer: Are there dangers of doing it at home?

Dr. House: Yes. At the extreme end, if you're hooking up a car battery, sure, you can . . .

Interviewer: Okay. Are people doing that?

Dr. House: People will try lots of extremes. Of course, you could have burns just from the electrodes. You can induce seizures if things get severe enough. Sort of the good news is that there is not a wealth of reports of injuries of people doing this yet. I think with the Internet, there are some forums and that sort of thing where they suggest levels for people to start at that have been proven relatively safe. But, again, I wouldn't just go out and try it.

Interviewer: So I'm still back on even the beginning of this conversation, people go to Radio Shack and build these things. Are there actually commercially available brain stimulators like this that people are buying?

Dr. House: I don't know if there are formally commercially available one or if this is all you sort of buy the parts and put it together yourself.

Interviewer: So this is really a do it yourself sort of a thing?

Dr. House: Yes, this is a do it yourself, DIY it kind of movement, kind of issue.

Interviewer: As a physician, what is your opinion about brain stimulation at home and its rise of popularity?

Dr. House: It's a very interesting time because, from the scientific standpoint, I'm very interested to see if anything is learned by people doing this in large numbers. But, at a personal, individual level, I'm a bit concerned about people doing this at home.

Interviewer: So it sounds like you've been monitoring this. What are people saying this on these forums, like the benefits that they get?

Dr. House: Yeah. So there are reported benefits in everything from mood disorders, personality disorders, just enhanced cognition or enhanced creativity, for example. It's like anything, people report lots of positives and we don't really know if there are many negatives that aren't being reported yet.

Interviewer: And, of course, it's not a scientific method, rigorously . . . I don't have the words, but data is very empirical.

Dr. House: That's right. And everybody is their own best friend and worst enemy in that regard. Something good happens so you're going to blame it on the electrical stimulation and if something bad happens that was just fate.

Interviewer: So what's your final take on this whole thing?

Dr. House: I would not do this at home. That is my final take

Interviewer: All right. So if you're a parent and you have a kid that's doing this at home or you think it's helping, you might want to stop it
Dr. House: Yeah, that's right.

Interviewer: Could it be possible that an actual physician could help solve the problems that people are trying to cure with deep brain stimulation, or is it truly just I want to get smarter?

Dr. House: Sort of all of the above. Not to be too vague, but there are many of the conditions that people are trying to treat that do have very robust, well-established medical therapies that we might be able to help with. There are the other folks that are just trying to make themselves smarter. Right now, we don't have a pill for that.

Interviewer: Yeah, sure. So if they're trying to solve some other problem, does it frighten you that maybe they are not seeking out medical attention, that they are doing it at home?

Dr. House: Well, of course. Yeah. I think that there are limits to medical therapy, of course, but I think lots of time folks just don't really know what all is available. The interesting part is that this is getting a lot of press right now. Wired Magazine had a cover article about it; New York Times has an article about it. So there is certainly a lot more out there, but I think there are a lot more questions that need answers at this point.

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Dr. Miller: MS or multiple sclerosis. What is it and what can you do about it? We're going to talk about that next on Scope Radio. This is Dr. Tom Miller.

Announcer: Medical news and research from University of Utah physicians and specialists you can use for a happier and healthier life. You're listening to The Scope.

Dr. Miller: I'm here today with Dr. Dana Dewitt who is a professor of neurology and a specialist in multiple sclerosis care. Dana, what is multiple sclerosis? I think we've heard the term but what is it and how does it present and when should somebody be concerned that they might have it?

Dr. Dewitt: Everybody seems to know about the term "multiple sclerosis," but many people really don't understand what it is. It's certainly a neurologic disease. It is a disease that occurs because the immune system is activated and attacks the myelin in the brain and the spinal chord.

Dr. Miller: And we don't know why that occurs, is that true?

Dr. Dewitt: We don't know why that occurs. We know that there's a genetic input. We know that it may have something to do with Vitamin D levels, but we also don't know what actually is the spark that sets it off.

Dr. Miller: So if it's "set off," what does one experience? What are some of the symptoms that might arise?

Dr. Dewitt: There are some classic symptoms with MS. The attack on the nervous system can be on the optic nerve and can cause something that we call "optic neuritis."

Dr. Miller: Which changes vision, I guess?

Dr. Dewitt: Which changes vision. It causes, sometimes, a painful, kind of gritty feeling in the eye and then dimming of vision over time in one eye. The other thing that can happen is that the spinal chord can be attacked and you can end up with numbness or weakness of an arm and a leg or both legs, bladder and bowel dysfunction. Other parts of the brain can be affected that can cause double vision, vertigo, imbalance, those kinds of things.

Dr. Miller: But sometimes it can come on subtly. I mean, I've had a patient in the past who developed multiple sclerosis. His first time was running. He couldn't quite run as far. He had a weakness in one of the legs and then that sort of progressed.

Dr. Dewitt: That's true and there are different forms of MS, the most common type being relapsing/remitting disease. The beginning symptom can sometimes come on over days or a week or two and just get worse and worse. The interesting thing with relapsing/remitting disease is the nervous system has a way of healing itself in MS and so sometimes the symptoms get better and the patient ends up not coming to the attention of a physician early enough, until they've had a few events. At that point, we discover that they've probably had MS for a few years.

Dr. Miller: Now you can have numbness, I guess, on one leg or arm and then maybe weakness on the other and it could alternate back and forth. It could have some sort of strange presentations I think, is that right?

Dr. Dewitt: Exactly and you can have different things occur at different times.

Dr. Miller: Presenting with some of the symptoms that you've just talked about, how do you make the diagnosis and then what do we do about it?

Dr. Dewitt: Probably referral to a neurologist who would listen to your symptoms and do a complete neurologic exam to see what they think is happening. Then one of the ways MS is diagnosed is with an MRI scan and MRI is very, very good at showing the what we call plaque-like lesions that can occur in MS.

Dr. Miller: These little spots on the brain that are tell-tale signs of multiple sclerosis.

Dr. Dewitt: Exactly.

Dr. Miller: So does that mean that we don't have to do this lumbar puncture anymore, to take spinal fluid out and look at it under the microscope?
Most of the time I like doing a lumbar puncture. It tells me how much inflammation there is. It rules out what we call MS mimickers or other unusual things that can look like MS. If an MRI is absolutely classic for MS, occasionally, a lumbar puncture might not be necessary.

Dr. Miller: So you might still need that?

Dr. Dewitt: Yes.

Dr. Miller: Okay. Now, in the not-too-distant past the main treatment was steroids prednisone but there are a lot of new treatments now.

Dr. Dewitt: Most of the initial FDA treatments actually date back to about 1995. So, we've had treatments for quite some time. The major treatments are an interferon or something called glatiramer acetate. Those are all given by injections, which has been a bit problematic for some patients along the way, but they are very effective. They've been around so long we know what to expect and we know how safe they are and they really work. What's been shown in clinical trials is that getting on the drug early and staying on the drug makes an enormous amount of difference.
Now, we do have three new FDA approved oral agents that become options as well. So, the whole armamentarium of treatment for MS now has grown enormously. We still know the important thing is being diagnosed early, getting on treatment, staying on treatment.

Dr. Miller: What looks great in the future? Do you see any treatments on the horizon that you're excited about?

Dr. Dewitt: Well, we're hoping. We're actually doing a clinical trial here now for a new treatment for secondary progressive and what's called primary progressive MS, which are two different presentations for MS different from relapsing/remitting disease. And there really have not been good treatments for those forms of the disease. So we're very excited that we're actually doing this clinical trial here to look at this agent.
I think the other developments are there are a couple of clinical trials looking at potential remyelinating type agents where damage that has occurred in the past can actually be repaired and I think that's what we really want more than anything. The other thing is we're learning more and more with MRI in that we're able to do special MRIs looking at brain volume and we're able to look at certain agents to see if we can prevent degeneration and progression of disease in different ways than what we have available now.

Dr. Miller: You know, it's interesting. With the advent of MRI, which is a magnetic way of looking at the brain. That's allowed this field to progress in its ability to treat people, I think, because now you can actually see inside the brain on these images and look at the plaques and sort of figure out if there are more of them or if they're growing, right? So that's been key.

Dr. Dewitt: Exactly. It's been huge. Part of it is that once a plaque forms it will stay on the MRI as a scar and so we can differentiate between old lesions, new lesions, lesions that enhance with contrast agents. And now we're able to do these brain volume measurements to see how well some of the new medications are working to prevent progression.

Dr. Miller: This allows us a way to really see if the drugs are working and treatment's working. I had heard that stem cell transplant or bone marrow transplant was being tried in the past. Has that been effective at all?

Dr. Dewitt: Yes, there are some places where there are still clinical trials and there are places where bone marrow transplants are being done. There are different kinds of bone marrow transplants. The traditional bone marrow transplant where patients are given high-dose chemotherapy to totally eradicate the bone marrow. The question has always remained in those cases whether the high-dose chemotherapy actually treated the disease effectively enough that it's not really the bone marrow transplant, but those questions are still up in the air.
There are other types of bone marrow transplants now. Something called a mesenchymal transplant or multi-stem, which are these actual intravenous infusions which is a different kind of mode of stem cell transplant which, I think, is the major excitement for the future because I think they're going to turn out to be immune regulators that are far safer than the traditional way of doing a stem cell transplant.

Dr. Miller: Now treating multiple sclerosis is one of your areas of expertise. Would you recommend that people with multiple sclerosis seek a neurologist who have experience with multiple sclerosis?

Dr. Dewitt: I strongly do for a couple of reasons. One is I think making the diagnosis is important and sometimes it can be not so clear. So I think you need a specialist to make the diagnosis. The second thing is now that we have so many treatments, it's important for someone with experience who follows a lot of these patients to be able to choose the proper treatment for you, monitor you to know whether you're responding to that treatment, and then decide whether you need to be changed to something else and follow you over time and just see how you're doing.

Dr. Miller: So it sounds to me like early diagnosis, early treatment, and rigorous follow-up by a specialist who's an expert in multiple sclerosis can make a great difference in the health of these patients.

Dr. Dewitt: Exactly.

Dr. Miller: Any final thoughts?

Dr. Dewitt: We have so many developments for treating MS that it's changed the scope of the disease. It's always hard to give someone the diagnosis at the beginning because people do have a preset idea of what it means and they look down the road and they're very worried about having a chronic condition. I think what I'd like to say is that the treatments that we have available now are really excellent treatments and as long you're followed closely and you know you're on a medication that works, most people with MS live an absolutely normal life.

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Dr. Miller: You have had a stroke. How did that happen and how to prevent that from happening again in the future. I am here today with Dr. Dana DeWitt. She is a professor in neurology and a stroke specialist in the University of Utah, the department of neurology. Tell us a little bit about why people have strokes. You have had a stroke, what causes a stroke?

Dr. DeWitt: There are different causes of stroke and it's important that when you have a stroke, to be evaluated by someone who helps determine why it happened. A stroke can occur from a clot coming from the heart, it can occur from a clot coming from one of the arteries in your neck or it can occur because you either have a blood vessel in brain break, or a small blood vessel in the brain close off.

Dr. Miller: But the results, are many times, the same. Is that right?

Dr. DeWitt: Yes.

Dr. Miller: Debilitating problems.

Dr. DeWitt: Debilitating problems, focal deficits, often they don't recover.

Dr. Miller: So Dana, tell me a little bit about the causes behind those embolic, those pieces of tissues that break off or vessels that bruise. What are the main things that cause that to happen? Lifestyle things that might cause another stroke in a patient?

Dr. DeWitt: So, we well know that smoking is one of the major causes of hardening of the arteries and high blood pressure. It's a major risk factor for stroke. We know that high blood pressure is also a big risk factor for stroke. High blood pressure can cause blood vessels in brain to thicken, it can be one of the causes for [inaudible 00:01:35] and can also cause heart disease. And then we know that cardiac conditions, people who have had heart attacks, whose heart doesn't pump normally and then there is the irregular heart beat called atrial fibrillation which carries a high risk of stroke. And that's when a certain part of the heart called the atrium, actually becomes a little stretched and fibrillates and clog can form in the heart.

Dr. Miller: What about age? Is age related to stroke?

Dr. DeWitt: Well, we know well that as people get older, the risk of stroke is greater. We also do see in young people on occasion, sometimes that can be due to hyper-coagulable or clotting [inaudible 00:02:15] problems or something called dissection in blood vessels or tears in blood vessels, but the major strokes occur in older patients

Dr. Miller: Men and women about the same?

Dr. DeWitt: There is a high risk of stroke in men. Then again cause of stroke in women is a little different except if the women was a smoker and had hyper tension and high cholesterol for years, then her risk is the same.

Dr. Miller: So now I am assuming that if you had a stroke, your risk of having another stroke is higher, higher than the average population risk. Is that true?

Dr. DeWitt: It is. Evaluating those patients is why that's so important. There is also something called a TIA, which is really transient ischemic which is a stroke like event, presumed caused by the same thing that causes a stroke but it clears quickly, and patients then are also at risk for stroke within a short period of time. So it's an important thing for a doctor to evaluate you for your blood pressure. If you are a smoker, you need to stop smoking. You need to know what your cholesterol is and treat your cholesterol, and you need to have your heart evaluated to see if you might have atrial fibrillation or some other cardiac risk?

Dr. Miller: It's true. I think that many people that have atrial fibrillation may not know that.

Dr. DeWitt: That's very true. Atrial fibrillation, we are founding more and more about it but it maybe that atrial fibrillation actually isn't seen at the time that the stroke occurs. It may actually be found later and there are now methods, 30 day monitors or what we call loop recorders, which are implantable recorders that watch over a heart for a long period of time to see if atrial fibrillation occurs. Heart ultrasound, called an echo cardiogram can sometimes tell us if the heart is abnormal in a way that can put patient at risk for atrial fibrillation. It's very important because the treatment is...

Dr. Miller: And those work better to reduce the risk of stroke in the future than aspirins?

Dr. DeWitt: Yes. For atrial fibrillation, absolutely. So it is important to know whether that occurs and whether that needs to be treated in that way.

Dr. Miller: let me ask you a couple of other questions. How about the IBTs, is there a risk of stroke [inaudible 00:04:25] which is diabetes?

Dr. DeWitt: There is a risk of stroke with diabetes. Diabetes is part on the blood vessels and it can promote more atherosclerosis. It also causes damage to very small blood vessels which can cause small deep strokes. We know that patients with diabetes sometimes get damage to the arteries and their retina, in their eye, and also in their kidneys. So the same process can happen in the brain and cause strokes.

Dr. Miller: How about just obesity in general. People who are not in very good shape, they are overweight, they are not working out much.

Dr. DeWitt: That carries a risk as well. Metabolic syndrome, we know, is kind of a pre diabetic condition but patients who are obese are also more prone to high blood pressure. They are more prone to high cholesterol and those carry risk of stroke.

Dr. Miller: It sounds to me like high blood pressure, diabetes, possible cardiac functions if your heart is pumping well or not and an abnormal rhythm in the heart could all contribute to second stroke. So, what would you say to the person out there that has had a stroke or had a family member with a stroke? Do you think that many of them know their risk factors or they should really be aggressive in trying to find out if those problems we just mentioned are high risk factors?

Dr. DeWitt: I think that's extremely important. We talk about primary stroke prevention versus secondary stroke prevention. One is, to know your risk factors so that the stroke never happens and you treat them aggressively. The other is, once you have a stroke, know why the stroke occurred so that you can prevent another one by again, controlling those risk factors. And again, those risk factors really are high blood pressure, smoking, high cholesterol, diabetes and then obesity and inactivity carry another risk. Mainly because they promote the other problems.

updated: January 15, 2021
originally published: July 15, 2014