Podcasts about huntington disease

Chorea describes involuntary movements that are random, abrupt, and unpredictable, flowing from one body part to another. The most common cause of genetic chorea in adults is Huntington disease, which requires comprehensive, multidisciplinary care as well as support for care partners, who may themselves be diagnosed with the disease. In this episode, Aaron Berkowitz, MD, PhD FAAN speaks with Kathryn P. L. Moore, MD, MSc, author of the article “Huntington Disease and Chorea” in the Continuum® August 2025 Movement Disorders issue. Dr. Berkowitz is a Continuum® Audio interviewer and a professor of neurology at the University of California San Francisco in the Department of Neurology in San Francisco, California. Dr. Moore is an assistant professor and director of the Parkinson's Disease and Movement Disorders Fellowship in the department of neurology at Duke University in Durham, North Carolina. Additional Resources Read the article: Huntington Disease and Chorea Subscribe to Continuum®: shop.lww.com/Continuum Earn CME (available only to AAN members): continpub.com/AudioCME Continuum® Aloud (verbatim audio-book style recordings of articles available only to Continuum® subscribers): continpub.com/Aloud More about the American Academy of Neurology: aan.com Social Media facebook.com/continuumcme @ContinuumAAN Host: @AaronLBerkowitz Guest: @KatiePMooreMD Full episode transcript available here Dr Jones: This is Dr Lyell Jones, Editor-in-Chief of Continuum. Thank you for listening to Continuum Audio. Be sure to visit the links in the episode notes for information about earning CME, subscribing to the journal, and exclusive access to interviews not featured on the podcast. Dr Berkowitz: This is Dr Aaron Berkowitz with Continuum Audio, and today I'm interviewing Dr Kathryn Moore about her article on diagnosis and management of Huntington disease and chorea, which appears in the August 2025 Continuum issue on movement disorders. Welcome to the podcast, Dr Moore. Could you please introduce yourself to our audience? Dr Moore: Yeah, thank you so much. I'm so excited to be here. I'm Dr Moore. I'm an assistant professor of neurology at Duke University, where I work as a movement disorder specialist. I run our fellowship there and help with our residency program as well. So, I'm excited to speak with our listeners about chorea today. Dr Berkowitz: Fantastic. And we're excited to talk to you about chorea. So, as a general neurologist myself, I only see chorea pretty rarely compared to other movement disorders like tremor, myoclonus, maybe the occasional tic disorder. And like anything I don't see very often, I always have to look up the differential diagnosis and how to evaluate a patient with chorea. So, I was so glad to read your article. And next time I see a patient with chorea, I know I'll be referring to your article as a great reference to have a framework for how to approach it. I hope our readers will look at all these helpful tables on differential diagnosis based on distribution of chorea in the body, potential etiologies, time course of onset and evolution, associated drug-induced causes, what tests to send. So, I highly recommend our listeners read the article. Keep those tables handy for when a patient comes in with chorea. I'm excited to pick your brain about some of these topics today. First, how do you go about distinguishing chorea from other hyperkinetic movement disorders when you see a patient that you think might have chorea? Dr Moore: One of the wonderful things about being a movement disorder specialist is we spend a lot of time looking at movements and training our brain to make these distinctions. The things that I would be looking out for chorea is involuntary, uncontrolled movements that appear to be brief and flowing from one part of the body to another. So, if you can watch a patient and predict what movements they're going to do, this probably isn't chorea. And it should be flowing from one part of the body to another. So, not staying just in one part of the body or having sustained movements. It can be difficult to distinguish between a tic or dystonia or myoclonus. Those things tend to be more predictable and repetitive than the chorea, which tends to be really random and can look like dancing. Dr Berkowitz: That's very helpful. So, once you've decided the patient has chorea, what's your framework for thinking about the differential diagnosis of the cause of the patient's chorea? Dr Moore: Well, that could be really challenging. The differential for chorea is very broad, and so the two things that I tend to use are age of the patient and acuity of onset. And so, if you're thinking about acute onset of chorea, you're really looking at a structural lesion like a stroke or a systemic issue like infection, hyperglycemia, etc. Where a gradually progressive chorea tends to be genetic in nature. When you're thinking about the difference between a child and an adult, the most common cause of chorea in a child is Sydenham's chorea. And actually, the most common cause of chorea that I tend to see is Parkinson's disease medication. So, if anybody's seen dyskinesia in Parkinson's disease, you've seen chorea. But it's those two things that I'm using, the age of the patient and the acuity. Somewhere in the middle, though---so, if you have subacute onset of chorea---it's important to remember to think about autoimmune conditions or paraneoplastic conditions because these are treatable. Dr Berkowitz: That's very helpful. So, like in any chief concern in neurology, we're using the context like the age and then the time course. And then a number of other helpful points in your article about the distribution of chorea in the body. Any comments you'd like to make about- we have this very helpful table that I thought was very interesting. So, you really get deep into the nuances of chorea and the movement disorder specialist expert level. Are there any aspects of parts of the body affected by chorea or distribution of chorea across the body that help you hone your differential diagnosis? Dr Moore: Certainly. I think where the chorea is located in the body can be helpful, but not as helpful as other conditions where you're localizing a lesion or that sort of thing. Because you can have a systemic cause of chorea that causes a hemichorea; that you can have hyperglycemia causing a hemichorea, or even Sydenham's chorea being a hemichorea. But things that we think about, if the forehead is involved, I would think about Huntington's disease, although this is not pathognomonic. And if it's involving the face or the mouth, you can think about neuroacanthocytosis or, more commonly, tardive dyskinesia. Hemichorea would make me think about some of those systemic issues like hyperglycemia, Sydenham's chorea, those sorts of things, but I would rely more on the historical context and the acuity of presentation than the distribution itself. Dr Berkowitz: Got it. That's very helpful. So those can be helpful features, but not sort of specific for any particular condition. Dr Moore: Exactly. Dr Berkowitz: Yeah, I often see forehead chorea mentioned as sort of specific to Huntington's disease. Since I don't see much Huntington's disease myself, what does forehead chorea look like? What is the forehead doing? How do you recognize that there is chorea of the forehead? It's just sort of hard for me to imagine what it would look like. Dr Moore: It's really tricky. I think seeing the eyebrows go up and down or the brows furrow in an unpredictable way is really what we're looking for. And that can be hard if you're having a conversation. My forehead is certainly animated as we're talking about one of my favorite topics here. One of the tricks that I use with the fellows is to observe the forehead from the side, and there you can see the undulation of the forehead muscles. And that can be helpful as you're looking for these things. I think where it's most helpful to use the forehead is if you're trying to determine if someone with a psychiatric history has tardive dyskinesia or Huntington's disease, because there can be quite a lot of overlap there. And unfortunately, patients can have both conditions. And so, using the forehead movement can be helpful to maybe direct further testing for Huntington's disease. Dr Berkowitz: Oh, wow, that's a very helpful pearl. So, if you see, sort of, diffuse chorea throughout the body and the forehead is involved, to my understanding it may be less specific. But in the context of wondering, is the neuropsychiatric condition and movement disorder related by an underlying cause in the case of seeing orofacial dyskinesias, is the relationship a drug having caused a tardive dyskinesia or is the whole underlying process Huntington's, the absence of forehead might push you a little more towards tardive dyskinesia, presuming there is an appropriate implicated drug and the presence of forehead chorea would really clue you in more to Huntington's. Did I understand that pearl? Dr Moore: That's exactly right, and I'm glad you brought up the point about making sure, if you're considering tardive dyskinesia, that there has been an appropriate drug exposure. Because without that you can't make that diagnosis. Dr Berkowitz: That's a very helpful and interesting pearl, looking at the forehead from the side. That is a movement disorders pearl for sure. Sort of not just looking at the forehead from one angle and trying to figure out what it's doing, but going to look at the patient in profile and trying to sort it out. I love that. Okay. So, based on the differential diagnosis you would have crafted based on whether this is sort of acute, subacute, chronic, the age of the patient, whether it's unilateral, bilateral, which parts of the body. How do you go about the initial evaluation in terms of laboratory testing, imaging, etc.? Dr Moore: Well, certainly in an acute-onset patient, you're going to get a number of labs---and that's listed out for you in the paper---and consider imaging as well, looking for an infarct. One thing our learners will know is that sort of the typical answer to what's the infarct causing hemichorea would be the subthalamic nucleus. But really, those infarcts can be almost anywhere. There are case reports for infarcts in a wide variety of places in the brain leading to hemichorea. So, I think some general blood work and an MRI of the brain is a good place to start. For someone who has a more chronic course of the development of chorea, there are certain labs that I would get---and an MRI, because if you get an MRI and there's heavy metal deposition or other disease, structurally, that indicates a certain condition, that can help you pretty considerably. But otherwise, I'm looking for inflammatory markers, heavy metals, HIV, some general other things that are outlined, to help make sure that I'm not missing something that's treatable before I go down the route of genetic testing. And we may talk about this in a little bit, but if you start out with genetic testing and then you sort of have to back up and do more systemic testing, that can be very disjointed when it comes to good patient care. Dr Berkowitz: That's very helpful. So yeah, if it's acute, obviously this is the most straightforward scenario, acute and unilateral. We're imagining something lesional, as you said, either a stroke or---not sort of sudden, but fast, but not sudden---you might think of another structural lesion. Toxoplasmosis, right, has an affinity for the basal ganglia if you were seeing this in a patient who is immunocompromised. But in a case that, probably as you alluded to, sort of what we would see most commonly in practice, those still relatively rare, sort of subacute to chronic symmetric chorea. There's a long list of tests that are recommended. In your article and in other texts, I've read lupus testing, anti-phospholipid antibodies… but the list is long. I'll refer readers to your article. Out of curiosity as a specialist, how often do you see any of these labs come back revealing any underlying diagnosis in a patient who's otherwise healthy and just has developed chorea and comes to you with that chief concern? I feel like I've sent that mega-workup a few times; I'm obviously a general neurologist, but not nearly as many times as you have been. It's- I can't remember a time where something has come up, maybe an ANA one to forty or something like this that we don't think is relevant. But in your practice, how often do you end up finding a reversible cause in the laboratory testing versus ending up starting to go down the genetic testing route, which we'll talk about in a moment? Dr Moore: It's not common, but it is important that we capture these things. Because for a lot of those laboratory tests, there are treatments that are available, or other health implications if those come back positive. So, the case I think of is a polycythemia vera patient who had diffused subacute onset chorea and was able to be treated, was temporarily managed with medication for her chorea, and as her PV improved, she was able to come off those medications. As I was alluding to before---and I'm sure we'll talk about genetic testing---if you test for HD and it's negative, do you go down the route of additional expensive genetic testing, or do you then circle back and go, oops, I missed this treatable condition? As we talk about genetic testing as well, getting HD testing is a pretty involved process. And so, we want to make sure we are checking all those boxes before we move forward. So, it's not common, but we do catch some treatable conditions, and that's really important not to miss. Dr Berkowitz: That's very interesting. So, you diagnosed that polycythemia vera by blood smear, is that how you make the diagnosis? Dr Moore: Yes. Dr Berkowitz: And is that a once-in-a-career-so-far type of thing, or does that happen time to time? Dr Moore: For me, that's a once-so-far, but I don't doubt that I'll see it again. Dr Berkowitz: Great. And how about lupus and some of these other things we look for in the absence of other systemic features? Have you picked up any of these or heard of colleagues picking up something on laboratory testing? They said, oh, this patient came in for a referral for genetic testing, negative Huntington's disease. And good news, we found polycythemia vera; good news, we found undiagnosed lupus and we reversed it. I'm just curious, epidemiologically, seeing these long lists and not having the subspecialty practice that you do, how often you find a reversible cause like we do for neuropathy all the time, right? Oh, it's diabetes, it's B12---maybe not reversible, but preventing progression---or reversible dementia work up. You get so excited when you find low B12 and you replete the patient's B12, and they get better when they had been concerned they were developing an irreversible condition. How often does one in your subspecialty find a reversible cause on that initial mega-lab screen? Dr Moore: I think it's really uncommon, and maybe the folks that do are caught by someone else that never make it to Huntington's clinic, but I don't tend to see those cases. There are, of course, case reports and well-described in the literature about lupus and movement disorders and things of that nature, but that doesn't come to our clinic on a regular basis for sure. Dr Berkowitz: Got it. That's helpful to hear. Well, we've alluded to genetic testing a number of times now, so let's go ahead and talk about it. A lot of your article focuses on Huntington disease, and I was thinking about---in the course of our medical training in medical school, and then neurology residency, for those of us who don't become movement disorder experts like yourself---we learn a lot about Huntington disease. That's sort of the disease that causes chorea, until we later learned there are a whole number of diseases, not just the reversible causes we've been talking about, but a number of genetic diseases which you expertly reviewing your article. So, what are some of the red flags that suggest to you that a patient with chronically progressive chorea---and whom you're concerned for Huntington's or another genetic cause---what are some things you notice about the history, about the exam, the symptoms, the signs, the syndrome, that suggest to you that, actually, this one looks like it might not turn out to be HD. I think this patient might have something else. And as you have alluded to, how do you approach this? Do you send HD testing, wait for it to come back, and then go forward? Are there genetic panels for certain genetic causes of chorea? Do you skip just a whole exome sequencing, or will you miss some of the trinucleotide repeat conditions? How do you approach this in practice? Dr Moore: I'll try to tackle all that. One thing I will say is that a lot of patients with chorea, regardless of the cause, can look very similar to one another. So, if you're looking at chronic onset chorea, perhaps with some neuropsychiatric features, I'm going to most often think about HD because that's the most common cause. Certainly, as we mentioned before, if there's a lot of tongue protrusion, I would think about the acanthocytic conditions, neurocanthocytosis and McCloud syndrome. But generally in those conditions, we're looking at HD as the most likely cause. Certainly, if there is epilepsy or some other syndromic types of things going on, I may think more broadly. But it's important to know that while HD, as you mentioned, is the cause of chorea, many of our patients will have parkinsonism, tics, dystonia, a whole host of other movement phenomenologies. So, that wouldn't dissuade me from thinking about HD. When we think about the kind of patients that you're describing, upwards of 95% of those people will have Huntington's disease. And the process for genetic testing is fairly involved. The Huntington's Disease Society of America has organized a set of recommendations for providers to go about the process of genetic testing in a safe and supportive way for patients and their families. And so that's referred to in the article because it really is important and was devised by patients and families that are affected by this disease. And so, when we're thinking about genetic testing for HD, if I reveal that you have HD, this potentially affects your children and your parents and your siblings. You can have a lot of implications for the lives and health and finances of your family members. We also know that there is high suicidality in patients with HD, in patients who are at risk for HD; and there's even a higher risk of suicidality in patients who are at risk but test negative for HD. So, we do recommend a supportive environment for these patients and their families. And so, for presymptomatic patients or patients who are at risk and don't have chorea, this involves making sure we have, sort of, our ducks in a row, as it were, when we think about life insurance, and, do you have somebody supportive to be with you through this journey of genetic testing, no matter what the results are? So, oftentimes I'll say to folks, you know, there's this 20-page policy that I encourage you to look at, but there are Huntington's Disease Centers of Excellence across the country that are happy to help you with that process, to make sure that the patients are well supported. This is an individual genetic test because, as you mentioned, it is a CAG repeat disorder. And unfortunately, there is no chorea panel. So, if an HD test comes back negative, what we'll do then is think about what's called the HD phenocopies. As I mentioned before, some of these patients who look like they have HD will have a negative HD test. And so, what do you do then? Well, there's a handful of phenocopies---so, other genetic mutations that cause a very similar presentation. And so, we try to be smart, since there's not a panel, we try to be smart about how we choose which test to do next. So, for instance, there's a condition called DRPLA that is present in an African-American family here in my area, in North Carolina, as well as in Japan. And so, if someone comes from those backgrounds, we may decide that that's the next test that we're going to do. If they are white European descent, we may consider a different genetic test; or if they're sub-Saharan African, we may choose a different one from that. However, even if you do a really thorough job, all those blood tests, all those genetic tests, you will occasionally get patients that you can't find a diagnosis for. And so, it's important to know even when you do a good job, you may still not find the answer. And so, I think trying to do things with this complex of the presentation in a systematic way for yourself so you're not missing something. So, going back to our answer about, how do I look at lupus and polycythemia vera and all of that, to think about it in a systematic way. That when you get to the end and you say, well, I don't have an answer, you know you've tried. Dr Berkowitz: That's very helpful to hear your approach to these challenging scenarios, and also how to approach the potential challenging diagnosis for patients and their families getting this diagnosis, particularly in the presymptomatic phase. And your article touches on this with a lot of nuance and thoughtfulness. So, I encourage our listeners to have a read of that section as well. So, last here, just briefly in our final moments, you discuss in your article the various symptomatic treatments for chorea. We won't have time to go into all the details of all the many treatments you discussed, but just briefly, how do you decide which medication to start in an individual patient with chorea for symptomatic management? What are some of the considerations related to the underlying condition, potential side effect profiles of the particular medications, or any other considerations just broadly, generally, as you think about choosing one of the many medications that can be used to treat chorea? Dr Moore: Certainly. So, there is a group of FDA-approved medications, VMAT2 inhibitors, that we can choose from, or the off-label use of neuroleptics. And so, there's a lot of things that go into that. Some of that is insurance and cost and that sort of thing, and that can play a role. Others are side effects. So, for the VMAT2 inhibitors, they all do have a black box warning from the FDA about suicidality. And so, if a patient does struggle with mental health, has a history of suicidality, psychiatric admissions for that sort of thing, then I would be more cautious about using that medication. All patients are counseled about that, as are their families, to help us give them good support. So, the neuroleptics do not tend to have that side effect and can help with mood as well as the chorea and can be helpful in that way. And some of them, of course, will have beneficial side effects. So, olanzapine may help with appetite, which can be important in this disease. So, the big considerations would be the black box warning and suicidality, as well as, are we trying to just treat chorea or are we treating chorea and neuropsychiatric issues? Dr Berkowitz: Fantastic. Thank you for that overview. And again, for our listeners, there's a lot more detail about all of these medications, how they work, how they're used in different patient populations, their side effects, etc, to be reviewed in your excellent article. Again, today, I've been interviewing Dr Kathryn Moore about her article on diagnosis and management of Huntington's disease in chorea, which appears in the August 2025 Continuum issue on movement disorders. Be sure to check out Continuum Audio episodes from this and other issues. And thank you so much to our listeners for joining today. And thank you again, Dr Moore. Dr Moore: Thanks for having me. Dr Monteith: This is Dr Teshamae Monteith, associate editor of Continuum Audio. If you've enjoyed this episode, you'll love the journal, which is full of in-depth and clinically relevant information important for neurology practitioners. Use the link in the episode notes to learn more and subscribe. AAN members, you can get CME for listening to this interview by completing the evaluation at continpub.com/audioCME. Thank you for listening to Continuum Audio.

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Interview with Jordan L. Schultz, PharmD, author of β-Blocker Use and Delayed Onset and Progression of Huntington Disease. Hosted by Cynthia E. Armand, MD. Related Content: β-Blocker Use and Delayed Onset and Progression of Huntington Disease

Interview with Jordan L. Schultz, PharmD, author of β-Blocker Use and Delayed Onset and Progression of Huntington Disease. Hosted by Cynthia E. Armand, MD. Related Content: β-Blocker Use and Delayed Onset and Progression of Huntington Disease

Huntington disease (HD) is an inherited and progressive neurological disorder which is currently fatal. Dr James E. Goldman and Dr Osama Al-Dalahmah, both at Columbia University, USA, are utilising new techniques in molecular biology to better understand the brain pathology associated with HD. Their vision is to develop therapeutics that can slow the progression of the disease, and ultimately, treat and even prevent it.

WAKE UP! (1:40); Canada Post on track for another big loss this year, faces uncertain future (8:55); Since we're dropping off the 65-inch Playoff Payoff TV... let's talk TV memories! (not of shows, but the TV itself) (16:25); Lauren McNabb feature: After an 18 month journey through Drug Treatment Court... an update on one man's journey with addiction (24:00); Getting ready for a gala on the weekend honouring the Winnipeg Jets of old - Ulf Nilsson in studio! (36:05); Lockport River's Edge Run/Walk for Huntington Disease (48:00); Winning TV story (55:30); 80th Anniversarry of D-Day is just a month away (59:50).

In this episode, we review the high-yield topic of⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Huntington Disease Drugs ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠from the Neurology section. Follow ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Medbullets⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ on social media: Facebook: www.facebook.com/medbullets Instagram: www.instagram.com/medbulletsofficial Twitter: www.twitter.com/medbullets --- Send in a voice message: https://podcasters.spotify.com/pod/show/medbulletsstep1/message

Thank you Christian Earl, OMS IV for developing this podcast. Thank you Erin Callahan, OMS IV for participating in development of this podcast. This podcast contains high yield shelf information about Depression and Huntington Disorder at the beginning. We think that there is continued yield throughout. This podcast looks at the role that BDNF plays in a few conditions from the DSM including those listed above. There is a tremendous historical story that accompanies the identification of Nerve Growth Factors as part of this review. We enjoyed our discussion and hope you do too! Thank you to the immortal Jordan Turner for creating  the perfect bumper music!

Welcome to this special episode of the NeurologyLive® Mind Moments® podcast. Tune in to hear leaders in neurology sound off on topics that impact your clinical practice. For major FDA decisions in the field of neurology, we release short special episodes to offer a snapshot of the news, including the main takeaways for the clinical community, as well as highlights of the efficacy and safety profile of the agent in question. In this episode, we're covering the recent expanded indication of valbenazine (Ingrezza; Neurocrine Biosciences) to include the treatment of chorea associated with Huntington disease (HD). Erin Furr-Stimming, MD, FAAN, FANA, a professor of neurology at McGovern Medical School of UTHealth Houston, and principal investigator of the phase 3 KINECT-HD studies, valbenazine's supportive studies, offered her immediate reaction to the news. In addition, she spoke about the efficacy observed in these trials, the advantages valbenazine has as a VMAT2 inhibitor, and the remaining unmet needs in the management of HD.   For more of NeurologyLive®'s coverage of valbenazine's expanded indication, head here: FDA Approves Neurocrine Biosciences' Valbenazine for Huntington Disease Chorea Episode Breakdown: 0:30 – Valbenazine approved for Huntington disease chorea 1:35 – Erin Furr-Stimming, MD, FAAN, FANA, on immediate reaction 2:15 – Treatment toolbox for HD chorea  3:05 – Furr-Stimming on mechanistic advantages of valbenazine 5:10 – Phase 3 efficacy data of valbenazine 5:55 – Furr-Stimming on greatest clinical takeaways from trials 6:55 – Current state of Huntington management 8:00 – Furr-Stimming on current unmet needs for patients, including research on disease-modifying therapies Thanks for listening to the NeurologyLive® Mind Moments® podcast. To support the show, be sure to rate, review, and subscribe wherever you listen to podcasts. For more neurology news and expert-driven content, visit neurologylive.com. REFERENCES 1. Neurocrine Biosciences Announces FDA Approval of INGREZZA® (valbenazine) Capsules for the Treatment of Chorea Associated With Huntington's Disease. News Release. Neurocrine Biosciences. Published August 18, 2023. Accessed August 21, 2023.

Listen as Dr. London Smith (.com) and his producer Cameron discuss Huntington Disease with special guest Silvia Stirrup (Jen deHaan).  Sponsored by Caldera + Lab (use code "jockdoc" to get 20% off!). Not so boring! https://calderalab.com/pages/podcast-special-offer?show=Jock+Doc&utm_medium=podcast&utm_source=JocDoc https://www.patreon.com/join/jockdocpodcast Hosts: London Smith, Cameron Clark. Guest: Jen deHaan. Produced by: Dylan Walker Created by: London Smith Listen as Dr. London Smith (.com) and his producer Cameron discuss Huntington Disease with special guest Silvia Stirrup (Jen deHaan).  Sponsored by Caldera + Lab (use code "jockdoc" to get 20% off!). Not so boring! https://calderalab.com/pages/podcast-special-offer?show=Jock+Doc&utm_medium=podcast&utm_source=JocDoc https://www.patreon.com/join/jockdocpodcast Hosts: London Smith, Cameron Clark. Guest: Jen deHaan. Produced by: Dylan Walker Created by: London Smith

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2023.04.03.535397v1?rss=1 Authors: Duan, W. Abstract: Huntington disease (HD) is a neurodegenerative disorder that presents with progressive motor, mental, and cognitive impairment leading to early disability and mortality. The accumulation of mutant huntingtin protein aggregates in neurons is a pathological hallmark of HD. The glymphatic system, a brain-wide perivascular network, facilitates the exchange of interstitial fluid (ISF) and cerebrospinal fluid (CSF), supporting interstitial solute clearance including abnormal proteins from mammalian brains. In this study, we employed dynamic glucose-enhanced (DGE) MRI to measure D-glucose clearance from CSF as a tool to assess CSF clearance capacity to predict glymphatic function in a mouse model of HD. Our results demonstrate significantly diminished CSF clearance efficiency in premanifest zQ175 HD mice. The impairment of CSF clearance of D-glucose, measured by DGE MRI, worsened with disease progression. These DGE MRI findings in compromised glymphatic function in HD mice were further confirmed with fluorescence-based imaging of glymphatic CSF tracer influx, suggesting an impaired glymphatic function in premanifest stage of HD. Moreover, expression of the astroglial water channel aquaporin-4 (AQP4) in the perivascular compartment, a key mediator of glymphatic function, was significantly diminished in both HD mouse brain as well as postmortem human HD brain. Our data, acquired using a clinically translatable MRI approach, indicate a perturbed glymphatic network in the HD brain as early as in the premanifest stage. Further validation of these findings in clinical studies should provide insights into potential of glymphatic clearance as a HD biomarker and for glymphatic functioning as a disease-modifying therapeutic target for HD. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

Moderator: Prof. Marianne de Visser (Amsterdam, the Netherlands) Guest: Astri Arnesen (Kristiansand, Norway) Prof. Marianne de Visser is joined by Astri Arnesen (ERN-RND and EHA) discuss the impact of Huntingon's Disease on patients and their loved ones. For more information about The Patient Journey for Huntington's disease: https://www.ern-rnd.eu/wp-content/uploads/2022/01/Patient-journey-Huntington-final.pdf

As part of the History of Movement Disorders series, Dr. Sara Schaefer and Dr. David Standaert discuss the research and humanitarian work by Nancy Wexler and team starting in the 1970s in the Venezuelan village of Barranquitas, which has the highest prevalence of Huntington Disease in the world.

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2022.12.06.519168v1?rss=1 Authors: Benitez, C., Stephensen, H. J., Benraiss, A., Mokso, R., Sporring, J., Goldman, S. Abstract: Astroglial dysfunction contributes to the pathogenesis of Huntington's disease (HD), and glial replacement can ameliorate disease course. To establish the topographic relationship of diseased astrocytes to medium spiny neuron (MSN) synapses in HD, we used 2-photon imaging to map the relationship of tRFP-tagged striatal astrocytes and rabies-traced, EGFP-tagged coupled neuronal pairs, in R6/2 HD and wild-type (WT) mice. The tagged, prospectively-identified corticostriatal synapses were then studied by correlated light electron microscopy followed by serial block-face scanning EM, allowing nm scale assessment of synaptic structure in 3D. By this means, we compared the astrocytic engagement of single striatal synapses in HD and WT brains. R6/2 HD astrocytes exhibited constricted domains, with significantly less coverage of mature dendritic spines than WT astrocytes, despite enhanced engagement of immature, thin spines. These data suggest that disease-dependent changes in astroglial engagement and sequestration of MSN synapses enable the high synaptic and extrasynaptic levels of glutamate and K+ that underlie the striatal hyperexcitability of HD. As such, these data suggest that astrocytic structural pathology may causally contribute to the synaptic dysfunction and disease phenotype of those neurodegenerative disorders characterized by network overexcitation. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2022.11.23.517669v1?rss=1 Authors: Maiuri, T., Bazan, C. B., Harding, R. J., Begeja, N., Kam, T.-I., Byrne, L. M., Rodrigues, F. B., Warner, M. M., Neuman, K., Mansoor, M., Badiee, M., Dasovich, M., Leung, A. K., Andres, S. N., Wild, E. J., Dawson, T. M., Dawson, V. L., Arrowsmith, C. H., Truant, R. Abstract: Huntington disease (HD) is an autosomal dominant genetic neurodegenerative disease caused by a CAG expansion in the Huntingtin (HTT) gene, translating to an expanded polyglutamine tract in the huntingtin (HTT) protein. Age at disease onset is correlated to CAG repeat length, but varies by decades between individuals with identical repeat lengths. Genome-wide association studies link HD modification to DNA repair and mitochondrial health pathways. Recent clinical studies show elevated DNA damage in HD, even at the premanifest stage of disease. One of the major DNA repair nodes influencing neurodegenerative disease is the PARP pathway. Accumulation of poly ADP-ribose (PAR), produced by PARP1 and PARP2, has been implicated in the pathology of Alzheimers and Parkinsons diseases, as well as autosomal recessive cerebellar ataxia. We report that HD mutation carriers have lower cerebrospinal fluid PAR levels than healthy controls, starting at the premanifest stage. Patient-derived fibroblasts have reduced PARP1/2 activity and elevated DNA damage, while elevated PAR levels are only revealed upon inhibition of PAR degradation. These phenotypes are rescued by moderate huntingtin level reduction via the huntingtin-lowering splice modulator drug, LMI070 (Branaplam). As a direct mechanism, we have defined a PAR-binding motif in huntingtin, detected huntingtin complexed with PARylated proteins in human cells during stress, and localized huntingtin to mitotic chromosomes upon inhibition of PAR degradation. Direct huntingtin PAR binding was measured by fluorescence polarization and visualized by atomic force microscopy. These results provide insight into a very early molecular mechanism of HD, suggesting possible targets in HD to design early preventive therapies. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

*This audio is an edited version of an interview that had previously been posted on our on-demand audio.* We are re-sharing it now to correct some unverified information and further update our listeners. The story relates to allegations of inappropriate photos taken of residents of the long-term care in Baie Verte. A family on the Baie Verte Peninsula says Central Health informed them that some people employed at the Baie Verte hospital took photos of their family member. 64-year-old Rick Barker has Huntington Disease, which means that he now needs care in a long-term care facility. An earlier version of our interview with Barker's wife, Bernice Barker, included some references to images of genitalia. However, Barker has not seen the photo herself, nor has her son. CBC has not been able to independently verify the contents of the photo, and we have not been able to reach Barker's son. In the pre-amble to the edited interview, you will hear part of a statement Central Health sent CBC, to confirm some of the details and to outline Central Health's response to the allegations.

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2022.09.02.505959v1?rss=1 Authors: Wang, Y., Sepers, M. D., Xiao, D., Raymond, L. A., Murphy, T. H. Abstract: Huntington Disease (HD), caused by dominantly inherited expansions of a CAG repeat results in characteristic motor dysfunction. Although gross motor and balance defects have been extensively characterized in multiple HD mouse models using tasks such as rotarod, beam walking and gait analysis, little is known about forelimb deficits. Here we use a high-throughput alternating reward/non-reward water-reaching task conducted daily over ~2 months to simultaneously monitor forelimb impairment and mesoscale cortical changes in GCaMP activity, comparing female zQ175 (HD) and wildtype (WT) littermate mice, starting at ~5.5 months of age. Behavioral analysis of the water-reaching task reveals that HD mice, despite learning the water-reaching task as proficiently as WT mice, take longer to learn the alternating event sequence. Although WT mice displayed no significant changes in cortical activity and reaching trajectory throughout the testing period, HD mice exhibited an increase in cortical activity - especially in the secondary motor and retrosplenial cortices - over time, as well as longer and more variable reaching trajectories by ~7 months of age. HD mice also experienced a progressive reduction in successful performance rates. Tapered beam and rotarod tests before and/or after water-reaching assessment confirmed these early and manifest stages of HD characterized by the absence and presence of failed water-reaching trials, respectively. Reduced DARPP-32 (marker for striatal medium spiny neurons) expression in HD mice further confirmed disease pathology. The water-reaching task can be used to inform HD and potentially other movement disorder onset, therapeutic intervention windows and test drug efficacy. Copy rights belong to original authors. Visit the link for more info Podcast created by PaperPlayer

$5 Q-BANK: https://www.patreon.com/highyieldfamilymedicine Aneuploidy, Robertsonian translocation, mosaicism, prenatal screening, physical exam findings, Down's syndrome, Edward's syndrome, Patau syndrome, Klinefelter syndrome, Turner syndrome, Triple X syndrome, XYY syndrome, Cri Du Chat syndrome, Wolf-Hirschhorn syndrome, Jacobsen and Paris-Troussaeu syndromes, Charcot-Marie-Tooth syndrome, Prader-Willi and Angelman syndromes, trinucleotide repeat disorders, Fragile X syndrome, Huntington Disease, Myotonic dystrophy Type I, spinocerebellar ataxia, and Friedrich ataxia.

Patients presenting with involuntary movements across joints with a positive family history of Huntington's Disease require early referral to a Huntington's Disease Clinic and those with no family history to a movement disorder neurologist Issues of genetic testing will be dealt with by the specialists however GPs will need to support the patient in their discussion with siblings and children Assess regularly for falls, choking and risk of self-harm It is important to manage the common psychological issues of anxiety, irritability, and depression The use of alcohol and benzodiazepines can cause disinhibition and result in impulsive serious self-harm Host: Dr David Lim | Total time: 37 mins Guest: Dr Florence Chang, Neurologist, Westmead Hospital; Clinical Movement Disorder Fellow, Dystonia Medical Research Foundation Register for our fortnightly FREE WEBCASTS Every second Tuesday | 7:00pm-9:00pm AEST Click here to register for the next one See omnystudio.com/listener for privacy information.

Short, quick review of PANCE topics with associated printable cards to include for your board review prep

Guest Nakiah Cherry Chinchilla shared part one of her Roads Taken story, in which she talked about her early career in fashion and television and how she was always listening to her heart and feeling as though she were called to do more. At the same time, her home life became very confusing when her husband began exhibiting odd behaviors. That chapter ended as her husband Mike—who had been hospitalized numerous times for mental illness—came home and things between them seemed to repair themselves. Eventually, a psychiatric admission to the emergency room helped Nakiah recognize the symptoms of Huntington's Disease in Mike.With the terminal diagnosis came clarity of treatments and a new set of resources she could rely on. As it is an inherited condition, however, she knew that their son Auggie might also have an uncertain future. His juvenile Huntington's Disease and Nakiah was committed to making the most of the time he had. They turned it into an adventure, checking items off of Auggie's “baby bucket list.” Along the way, Nakiah has returned to school for coding, data science, and engineering to understand both Auggie's condition and the innovations that are possible in therapeutics for people with disabilities. In diving into those new technological fields, she ended up finding an answer to the call to do more to help people.In this episode, find out from Nakiah how listening to the call of the heart can help you help others…on today's Roads Taken with me, Leslie Jennings Rowley. About This Episode's GuestNakiah Cherry Chinchilla, is a data scientist and engineer focused on the use of data and technology in making significant changes in the lives of people everyday. Her interest center on the creation and development of technology, apps, games and advanced bionics for special needs children, disabled citizens, and underserved communities. Though she has extensive work experience in public relations for fashion and media companies, she has developed hard-won expertise in neurodegenerative diseases, data analytics, assistive technology, digital media, and special education advocacy. Part One of this Roads Taken story was posted on April 4, 2022. Mentioned in This EpisodeA study discussed in a previous Roads Taken episode with Elizabeth Manheim included the mini-documentary “Auggie's Story,” produced in association with Nakiah Cherry Chinchilla and intended for use with the case study “Auggie's Story: A Child with Huntington Disease” by Laura Y. Lorentzen, Kristie Reilly, Connor Baucom, and Elizabeth A. Manheim.  Executive Producer/Host: Leslie Jennings RowleyMusic: Brian Burrows Find more episodes at https://roadstakenshow.com Email the show at RoadsTakenShow@gmail.com

Dr. Hayden is the CEO of Prilenia. He is an accomplished scientist and physician. He is a Killam Professor at the University of British Columbia and Senior Scientist at the Centre for Molecular Medicine and Therapeutics. He is also a Canadian Research Chair in Human Genetics and Molecular Medicine. Dr. Hayden was the President of Global R&D and Chief Scientific Officer at Teva from 2012-2017. He led the approval of Austedo for chorea in HD, the second drug ever to be approved for HD in the USA. Author of approximately 900 peer-reviewed publications, he has focused his research primarily on Huntington Disease, translational medicine, including genetics, lipoprotein disorders, predictive, personalized medicine and drug development. He also identified the first mutations underlying Lipoprotein Lipase Deficiency and developed gene therapy approaches resulting in the first approved gene therapy product (Glybera) in the world. Dr. Hayden is the recipient of numerous prestigious honors. Most recently, he was awarded the David Dubinsky Humanitarian Award from the American Friends of Soroka MedicalCenter. He was inducted into the Canadian Medical Hall of Fame in 2017. He was named one of PharmaVoice's “100 of the Most Inspiring People” (2015); awarded an Honorary Doctorate of Science by the Universities of Gottingen (2014) and Alberta (2009); the Luminary award by the Personalized Medicine World Conference (2014); the Diamond Jubilee Medal (2012) on behalf of HRH Queen Elizabeth II, the Killam Prize by the Canada Council of the Arts (2011), and the Canada Gairdner Wightman award (2011). Dr. Hayden is committed to empowering others. In addition to mentoring over 100 graduate students and postdocs, he is also a TED mentor. For more information about Prilenia, please visit  ABOUT US | Prilenia Therapeutics

Guest Elizabeth Manheim Ades had known medical school was in her future but decided to take advantage of a liberal arts education and major in history. A senior year course on topics and ethics in assisted reproduction and a related research project solidified that a life in medicine—specifically IVF—would be hers. So when a first attempt at med school admission didn't work in her favor, she sought out post-bac medical programs that would qualify her. Instead she found herself in a PhD program in microbiology and molecular genetics, with no intention to teach or do research or even see it through a diploma. Nevertheless, she found a great fruit fly lab and mentor to teach her skills that ultimately she would use daily. A few more tries at med school—including a last minute admission—and an ill-fitting post-doc made her realize that she needed to stick on a different path.To get a foot in the door, she took a desk job at the IVF lab that had first inspired her to get into reproductive medicine. She got the training that she needed and became a full-time embryologist. After years, however, that took its toll and a repetitive use injury ended her dream job. Finding a new path after that loss was preparation she needed for a few more shake-ups in life.In this episode, find out from Elizabeth how sticking with things and working through the losses can reveal where you're meant to be…on ROADS TAKEN...with Leslie Jennings Rowley. About This Episode's GuestElizabeth Manheim Ades has had a long and varied career in molecular genetics and reproductive medicine. She has had a research career at Sloan Kettering, Rutgers, and Kean Universities. She also spent nearly a decade as a clinical embryologist and assistant professor of reproductive medicine at Cornell-Weill Medical. She now specializes in creating continuing education courses for medical professionals. Mentioned in This EpisodeThe mini-documentary “Auggie's Story,” produced in association with Nakiah Cherry Chinchilla and intended for use with the case study “Auggie's Story: A Child with Huntington Disease” by Laura Y. Lorentzen, Kristie Reilly, Connor Baucom, and Elizabeth A. Manheim.The video was originally filmed and edited (with consent) by the case study authors. The entire case study can be found on the National Center for Case Study Teaching in Science website.  Executive Producer/Host: Leslie Jennings RowleyMusic: Brian Burrows Find more episodes at https://roadstakenshow.com Email the show at RoadsTakenShow@gmail.com

Welcome to the NeurologyLive Mind Moments podcast. Tune in to hear leaders in neurology sound off on topics that impact your clinical practice. In this episode, we spoke with Victor Sung, MD, director, UAB Huntington's Disease Clinic, codirector, UAB School of Medicine Neuroscience Module, and director, Birmingham VAMC Deep Brain Stimulation Program. Sung detailed data on the cost of genetic testing in HD that he and colleagues presented earlier this year at the International Parkinson and Movement Disorders Society Congress (MDS 2021), and the current utilization of testing in clinical practice. Episode Breakdown: 1:45 – Background on the genetic testing process 3:50 – Findings of the study presented at MDS 2021 7:30 – Future plans to evaluate genetic testing costs 11:30 – Current utilization of genetic testing for HD 14:10 – Neurology News Minute 18:05 – Raising awareness for genetic testing  21:25 – Biggest step forward in Huntington disease 25:10 – Takeaways from MDS 2021 The stories featured in this week's Neurology News Minute, which will give you quick updates on the following developments in neurology, are further detailed here: Cerezen Device Gets Breakthrough Designation in Alzheimer Disease, MCI Eli Lilly Initiates Rolling Submission for Donanemab in Early Alzheimer Disease Amylyx Submits New Drug Application for ALS Treatment AMX0035 Thanks for listening to the NeurologyLive Mind Moments podcast. To support the show, be sure to rate, review, and subscribe wherever you listen to podcasts. For more neurology news and expert-driven content, visit neurologylive.com. REFERENCE Massey M, Orem T, Sung V. Cost of Predictive Genetic Testing for Huntington's Disease at Centers of Excellence in the US. Presented at: MDS Congress 2021; September 17-22; Virtual. Poster 240.

Joining our host, Kira Dineen, is Rich Hogan. Rich is the Founder and President of Cure Rare Disease, a company that develops customized therapeutics for those who have been diagnosed with rare, genetic diseases that have no treatments or cures. On this episode, we specifically sat down to discuss Duchenne Muscular Dystrophy during DMD awareness month!Rich Hogan has a deep passion for reimagining how rare and ultra-rare diseases are treated. With a younger sibling impacted by a rare disease, Rich has a strong interest in accelerating promising treatments for rare diseases. He formed an interdisciplinary collaboration of world-class researchers and clinicians to pioneer the rapid development of customized therapies for rare, genetic diseases. Prior to making his foray into biotech, Rich had extensive experience working in new business development at Corning Incorporated where he led the successful launch of a new product line. He also launched a successful car washing business in New York. He holds a BS from Cornell University where he graduated summa cum laude and an MBA from Harvard Business School where he was awarded the Blavatnik Fellowship for Life Science Entrepreneurship. Rich was recognized by Business Insider as one of ‘30 leaders under 40 transforming healthcare in 2020' and, most recently, was named on the 2021 Forbes 30 under 30 list.On This Episode We Discuss:Patient advocacy DMD heredityFounding Cure Rare Disease Current and developing treatments for DMDIn-vitro versus in-vivo researchNeutralizing antibodies To learn more about Rich, DMD, and Cure Rare Disease at cureraredisease.org. If you live in Canada, check out Muscular Dystrophy Canada at muscle.ca, which serves 50,000 Canadians impacted by neuromuscular disorders themselves, family members/caregivers, healthcare professionals, and researchers. They support individuals impacted by neuromuscular disorders by investing in research, delivering critical programs and services, and challenging public policy.Genomenon is a genomic health IT company powering precision medicine with genomics. Genomenon has designed the Mastermind Genomic Search Engine, which is used by hundreds of genetic labs worldwide to accelerate diagnosis, increase diagnostic yield, and assure repeatability in reporting genetic testing results. Genomenon also created the Mastermind Genomic Landscapes to inform pharmaceutical and bio-pharma companies on precision medicine development and deliver genomic biomarkers for clinical trial target selection. Look out for our October 1st episode, the founder of Genomenon will be a guest on DNA Today to explore the genetics of ALS. Learn more about Genomenon at genomenon.com (SPONSORED). If you enjoy DNA Today you will also love Eureka's Sounds of Science, a podcast from Charles River. Sounds of Science tells the stories of how – how chicken eggs impact vaccine development; how a single parent can change the FDA; how a horseshoe crab saves lives. If you enjoyed our episode (#74) with Huntington Disease patient advocate Antonio Maltese, you should check him out in this episode of Eureka's Sounds of Science podcast! Listen to Eureka's Sounds of Science on Apple Podcasts, Spotify, or wherever you download your podcasts. (SPONSORED)Stay tuned for the next new episode of DNA Today at the end of September where we'll be recapping the NSGC Annual Conference! Follow Us On...Instagram: @DNAradio (https://www.instagram.com/dnaradio/)Twitter: @DNApodcast (https://twitter.com/DNApodcast)Facebook: @DNApodcast (https://www.facebook.com/DNApodcast/)Listen On…Spotify (https://spoti.fi/39hVSUD) Apple (https://podcasts.apple.com/us/podcast...) Google (https://podcasts.google.com/feed/aHR0...) DNApodcast.com *******DNA Today is a podcast and radio show exploring genetics' impact on health through conversations with leaders in genetics like genetic counselors, researchers, doctors, and patient advocates. The show started in 2012 and features over 150 episodes. DNA Today won the 2020 Best Science and Medicine Podcast Award with nominate four other years. DNA Today is broadcast every Friday at 10:30am ET on WHUS 91.7 FM in Connecticut. New episodes are released on the first and third Friday of the month with some bonus episodes on other Fridays.

Huntington disease is an incurable, progressive neurodegenerative condition that is ultimately fatal, and the field of research into this rare disease saw a setback a few months ago with the end of 2 clinical trials for a type of possible therapy from Roche and Wave Life Sciences. On this episode of Managed Care Cast, we bring you an excerpt of an interview, originally conducted by Matt Hoffman, senior editor of NeurologyLive, with Daniel Claassen, MD, MS, director, Huntington's Disease Clinic, and division chief, of Behavioral and Cognitive Neurology, Vanderbilt University Medical Center. Claassen reviews the trial terminations and what that means for patients with this disease, but he also reviews some other candidates in the pharmaceutical pipeline, as well as the need for patient-reported outcomes and the possibility of wearable sensors.

In this episode, we review the high-yield topic of Huntington's Disease from the Neurology section. --- Send in a voice message: https://anchor.fm/medbulletsstep1/message

This week Bobbi Conner talks with Dr. Federico Rodriguez-Porcel about Huntington Disease. Dr. Rodriguez-Porcel is a neurologist specializing in movement and cognitive disorders and the Director of the Huntington Disease Center of Excellence at MUSC.

In the April 2021 episode of the JAAPA Podcast, co-hosts Lena Ward, PA-C and Brandon Cherry, PA-C break down CME articles on optimizing the management of inpatient cardiac arrest and on Huntington disease. Then, they give us a quick review of gestational trophoblastic disease and discuss an editorial focused on the role of PAs in public health immunization efforts. 

Welcome to the NeurologyLive Mind Moments podcast. Tune in to hear leaders in neurology sound off on topics that impact your clinical practice.In this episode, we spoke with Daniel Claassen, MD, MS, director, Huntington’s Disease Clinic, and division chief, Behavioral and Cognitive Neurology, Vanderbilt University Medical Center. He discussed the recent news of trial program terminations from Roche and Wave Life Science and the hope that remains in the Huntington disease pipeline despite these setbacks.  Thanks for listening to the NeurologyLive Mind Moments podcast. To support the show, be sure to rate, review, and subscribe wherever you listen to podcasts. For more neurology news and expert-driven content, visit neurologylive.com.

There is will be no more seasons just numerical order. This will be episode 92.  Q&A 293- Insulin dependent, Acne, Huntington disease. Video Link: https://youtu.be/189vFd_vHvY Have a question? Send it to: questions@dmhhc.com Visit the Club at: www.drmorsesherbalhealthclub.com Do you have a podcast, or want to start one? Want to save time and stress creating your episodes and or sound files? Allow us to help. Let Alt Control Delete produce your podcast. For inquiries, please send email to: info@altcontroldelete.com. or call: 917-451-1010. 

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2020.11.17.386631v1?rss=1 Authors: Liu, H., Zhang, C., Xu, J., Jin, J., Cheng, l., Wu, Q., Wei, Z., Liu, P., Lu, H., van Zijl, P., Ross, C. A., Hua, J., Duan, W. Abstract: Huntington disease (HD) is a dominantly inherited, fatal neurodegenerative disorder caused by a CAG expansion in the Huntingtin (HTT) gene, coding for pathologic mutant HTT protein (mHTT). Because of its gain-of-function mechanism and monogenic etiology, strategies to lower HTT are being actively investigated as disease-modifying therapies. Most approaches are currently targeted at the manifest HD stage, when clinical outcomes are used to evaluate the effectiveness of therapy. However, as almost 50% of striatal volume has been lost at the time of onset of manifest HD it would be preferable to begin therapy in the premanifest period. An unmet challenge is how to evaluate therapeutic efficacy before the presence of clinical symptoms as outcome measures. To address this, we have been developing more sensitive biomarkers such as functional neuroimaging with the goal of identifying noninvasive biomarkers that provide insight into the best time to introduce HTT-lowering treatment. In this study, we mapped the temporal trajectories of arteriolar cerebral blood volumes (CBVa) using inflow-based vascular-space-occupancy (iVASO) MRI technique in an HD mouse model. Significantly elevated CBVa was evident in premanifest zQ175 HD mice prior to motor deficits and striatal atrophy, recapitulating altered CBVa in human premanifest HD. CRISPR/Cas9-mediated non-allele-specific HTT silencing in striatal neurons restored altered CBVa in premanifest zQ175 mice, delayed onset of striatal atrophy, and slowed the progression of motor phenotype and brain pathology. This study showed the potential of CBVa as a noninvasive fMRI biomarker for premanifest HD clinical trials and demonstrates long-term benefits of introducing an HTT lowering treatment in the premanifest HD. Copy rights belong to original authors. Visit the link for more info

Huntington's disease is a rare, inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain; it has no cure. It has a broad impact on a person's ability to function and usually results in movement, thinking (cognitive), and psychiatric disorders. Michael's wife, Janet, was diagnosed with this disease 12 years ago at age 58 and he has been her care partner ever since. Janet is now receiving hospice support and Michael talks very openly about the challenges of caring for someone with Huntington's.For more information and contact information:https://bit.ly/2JOS70S

This is an exciting moment in the management of a devastating neurologic condition -- Huntington's Disease. As we know, this genetic disease often hits patients at the prime of life and, because it is autosomal dominant, can be haunting for affected families. As we'll discuss today, new developments in biomarkers and therapies for Huntington's are converging into a more hopeful picture for those affected. In this episode, we’ll hear from two Huntington Disease experts -- Dr. Jee Bang, Clinical Director of Johns Hopkins Huntington Disease Center of Excellence and Assistant Professor of Neurology... and ANA investigates producer Dr. Danny Bega, Director of the Northwestern Medicine Huntington Disease Center of Excellence and Associate Professor of Neurology.

Welcome to the NeurologyLive Mind Moments podcast. Tune in to hear leaders in neurology sound off on topics that impact your clinical practice.     In this episode, we’re joined by Dr. Daniel Claassen, an associate professor of neurology in the Department of Cognitive and Behavioral Neurology and Movement Disorders at Vanderbilt University. Dr. Claassen discussed the recent work he and colleagues did in assessing the feasibility of conducting clinical trials using therapies that target single nucleotide polymorphisms, or SNPs, in patients with Huntington disease.      Thanks for listening to the NeurologyLive Mind Moments podcast. For more neurology news and expert-driven content, visit neurologylive.com (http://neurologylive.com/) . REFERENCE Claassen DO, Corey-Bloom J, Dorsey ER, et al. Genotyping single nucleotide polymorphisms for allele-selective therapy in Huntington disease. Neurology. 2020;6(3):e430. doi: 10.1212/NXG.0000000000000430

Dr. Daniel Claassen discusses his paper,  "Genotyping Single Nucleotide Polymorphisms for Allele-Selective Therapy in Huntington Disease". Show References: Paper: https://ng.neurology.org/content/6/3/e430 Podcast: https://neurology.libsyn.com/website

Dr. Bruce Compas is a Professor of Pediatrics and an Investigator at Vanderbilt Kennedy Center for Research on Human Development. In November 2019, Dr. Compas gave a presentation titled “Families Coping with Illness: Implications for Huntington Disease”, that covered research into stress, coping, and resilience for families dealing with chronic illnesses. Stress can be significantly magnified for HD families and caregivers, which makes the research and science behind it all the more important to understand and be aware of. Dr. Compas joined the HD Insights Podcast to help provide a sense of connection during the current pandemic, and to share strategies related to stress that may be helpful for members of the Huntington disease community.

Dr. Daria Julkowska joins the show for Rare Disease Month as the Coordinator of the European Joint Program on Rare Diseases. This organization was newly established in January 2019. Daria is of Polish origin but she has lived and worked in France for the last 18 years. She has a PhD in molecular biology and is involved in rare diseases research and management for the last ten years.The European Joint Program on Rare Diseases represents 89 partners across the EU and beyond. Internally, the partners include research funders, research institutions and infrastructures, hospitals and of course patient organizations. The program is financed by the EU and the states participating in the project.On This Episode We Discuss:Motivation to Start the OrganizationGoals for the Rare Disease CommunityCountries RepresentedRare Disease Visual PlatformAdvancing Rare Disease ResearchOngoing Research ProjectsFunding for ResearchCombating Exorbitant Costs of Treatments (Ex: Spinraza)Rare Disease Day/Month InvolvementHappy Rare Disease Month! If you are in the US you can get involved by going to the National Organization for Rare Disorders’ website, rarediseases.org. You can find ways to get active on social media and in person events. Learn more about The European Joint Program on Rare Diseases by visiting their website.Want to hear more from the rare disease community? Check out all the 20 rare disease episodes of DNA Today here! Recent episodes include #102 Seth Rotberg on Huntington Disease, #98 Lydia Seiders on Aplastic Anemia, and #95 Kieger Family on Familial Adenomatous Polyposis.Stay tuned for the next new episode of DNA Today. New episodes are released on the first Friday of the month with some bonus episode thrown in there. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

Computer and Technology News.Topics:Microsoft forced to create a free Windows 7 update just days after updates ended – The VergeMotorola wants you to be careful using the new Razr | EngadgetRivian says its electric vehicles will cost less than first announced | EngadgetMozilla has banned nearly 200 malicious Firefox add-ons over the last two weeks | ZDNetThe ‘Race To 5G' Is A Giant Pile Of Lobbyist Nonsense | Techdirt5G Action NowIntel Is Patching the Patch for the Patch for Its ‘Zombieload' Flaw | WIREDMagecart gang arrested in Indonesia | ZDNetApple envisions a Mac made from a sheet of curved glass | EngadgetIBM uses AI to predict progress of Huntington's disease symptoms | EngadgetPlague Inc. developer reminds players it is just a game amid coronavirus outbreak – The VergeYouTube is using massive e-sports leagues to take on Twitch in big live-streaming bet – The VergeFor full show notes, check out ComputerAmerica.com!

Neurologist Dr. Serggio Lanata explores the neurodegenerative disease of the brain, what they have in common and how they differ. alzheimer's is the most common neurodegenerative disease but there are several others including Parkinson's, Huntington Disease and others. Series: "Mini Medical School for the Public" [Health and Medicine] [Show ID: 34774]

Neurologist Dr. Serggio Lanata explores the neurodegenerative disease of the brain, what they have in common and how they differ. alzheimer's is the most common neurodegenerative disease but there are several others including Parkinson's, Huntington Disease and others. Series: "Mini Medical School for the Public" [Health and Medicine] [Show ID: 34774]

Neurologist Dr. Serggio Lanata explores the neurodegenerative disease of the brain, what they have in common and how they differ. alzheimer's is the most common neurodegenerative disease but there are several others including Parkinson's, Huntington Disease and others. Series: "Mini Medical School for the Public" [Health and Medicine] [Show ID: 34774]

Neurologist Dr. Serggio Lanata explores the neurodegenerative disease of the brain, what they have in common and how they differ. alzheimer's is the most common neurodegenerative disease but there are several others including Parkinson's, Huntington Disease and others. Series: "Mini Medical School for the Public" [Health and Medicine] [Show ID: 34774]

Neurologist Dr. Serggio Lanata explores the neurodegenerative disease of the brain, what they have in common and how they differ. alzheimer's is the most common neurodegenerative disease but there are several others including Parkinson's, Huntington Disease and others. Series: "Mini Medical School for the Public" [Health and Medicine] [Show ID: 34774]

Neurologist Dr. Serggio Lanata explores the neurodegenerative disease of the brain, what they have in common and how they differ. alzheimer's is the most common neurodegenerative disease but there are several others including Parkinson's, Huntington Disease and others. Series: "Mini Medical School for the Public" [Health and Medicine] [Show ID: 34774]

Neurologist Dr. Serggio Lanata explores the neurodegenerative disease of the brain, what they have in common and how they differ. alzheimer's is the most common neurodegenerative disease but there are several others including Parkinson's, Huntington Disease and others. Series: "Mini Medical School for the Public" [Health and Medicine] [Show ID: 34774]

Neurologist Dr. Serggio Lanata explores the neurodegenerative disease of the brain, what they have in common and how they differ. alzheimer's is the most common neurodegenerative disease but there are several others including Parkinson's, Huntington Disease and others. Series: "Mini Medical School for the Public" [Health and Medicine] [Show ID: 34774]

Seth Rotberg, a rare disease patient advocate and motivational speaker, joins the show to share his perspective on Huntington Disease (HD).From 2011 – 2015, Seth served on the boards for the HDSA National Youth Alliance (NYA) and HDSA Massachusetts Chapter to continue his efforts in the HD community. He became the President of the HDSA NYA in 2012 and HDSA Massachusetts Chapter in 2013, where he led a group of dedicated volunteers to plan and execute fundraising and educational events.Seth is still an active member of the Huntington Disease community and currently sits on the Board of Trustees for the Huntington’s Disease Youth Organization (HDYO). As a member of the working board, he connects young people to the proper social, emotional, and educational resources needed when coping with HD. His hope is to be a mentor for young people who face adversity by sharing how taking control of his HD journey has given him opportunity, fulfillment, and hope.On This Episode We Discuss:-How Huntington Disease Affects the Body and Mind-Seth’s Journey with Huntington Disease-Seth’s Family’ History and Experience with Huntington Disease-Genetic Testing Process and Seth’s Advice-Importance of a Support System-Inspiration Behind Seth Becoming a Patient AdvocateTo read and hear more from Seth check out his website, follow him on Twitter, watch his TED Talk and listen to his own podcast, Rare Unplugged.Stay tuned for the next new episode of DNA Today. New episodes are released on the first Friday of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

Happy Genetic Counseling Match Day! Today we are celebrating the genetic counseling graduate program match day by discussing how to prepare and what to expect during the first year. We also provide advice for applicants that didn’t match in this cycle and offer inspiration to apply next round.In a way this is a follow up episode from the application process discussions. If you are thinking about or planning on applying to genetic counseling grad schools check out those episodes. Episode 87 was the first part of this conversation where we discussed how to gather the experience and classes to have a competitive application. We also surveyed over 50 incoming genetic counseling students (enrolling Fall 2018) who went through the last application process, which was also the first time the Match System was used. In episode 97, the panel discussed the second portion of the application cycle: interviews, ranking, and matching.On This Episode We Discuss:Classes to Take to Fulfill Prerequisites before EnrollingManaging the FinancesLoans, Financial Aid, Budgeting, and JobsExtra Steps for International StudentsHealthcare, Visa, MovingFinding Housing and RoommatesFirst Year ClassesRotationsDisability and Genetic CounselingThesisStudent Mentor ProgramThe PanelKarl Krahn is a first year genetic counseling student at Sarah Lawrence College. He earned his BS in Biology from the University of the Fraser Valley in Abbotsford, British Columbia, Canada at the end of 2017. During his undergraduate career, Karl performed research in bioethics at UFV and research on food systems in Nairobi, Kenya at Aga Khan University. He volunteered at a genetic counseling office and was a mentor for his community’s youth mentorship program. His professional interests include, oncology, variant research, and, his personal favourite, the murky waters of how athletic performance is intertwined with genetics.Maria van Noordenne is from British Columbia, Canada. She earned her BS in Psychology (with a Biology focus) and a minor in Statistics, as well as her MS in Cognition and Brain Sciences from University of Victoria in 2017. She spent time her time volunteering at a transition house crisis line and at medical genetics in Victoria General Hospital. She also worked as a crisis counselor at a youth shelter in addition to contracting research projects, including a few months in Nunavut, Canada. She is excited to be completing her first year of genetic counseling at Sarah Lawrence College.Ashlyn Enokian is a first year genetic counseling student from Brighton, Michigan. She earned her BS in Biology and a minor in Criminal Justice from Grand Valley State University in 2017. Her journey into the field of genetic counseling began with advocacy work through Crisis Text Line and Help Pregnancy Crisis Aid. She worked as a genetic counseling assistant in cancer genetics at Saint Joseph Mercy Hospital, pediatric genetics at the University of Michigan, and laboratory genetics at Progenity, Inc. Her professional interests include fertility, neurogenetics, and strategies to increase diversity in the field. She acts as a student representative of Sarah Lawrence College’s Class of 2020 and is a genetics graphic design intern at My Gene Counsel.Kira Dineen hosts DNA Today: A Genetics Podcast (and radio show), which was founded in 2012 and features over 100 episodes interviewing genetic counselors, patient advocates and other genetic experts. The show was nominated in the 2015 and 2016 Podcast Awards. She also hosts other healthcare podcasts including Advancing Dentistry and Insight Says: A Mental Health Podcast. Kira is the Communications Lead at My Gene Counsel, a digital genetic counseling company. She is also a member of National Society of Genetic Counselors’ Digital Ambassador Program (aka #NSGCGenePool). Kira received her in Bachelor's of Science degree in Diagnostic Genetic Sciences with a concentration in Cytogenetics at the University of Connecticut, and has a certification as a cytogenetic technologist. Along with Ashlyn, she is a student representation in Sarah Lawrence College’s Genetic Counseling Class of 2020.Interested in getting in contact with a current student at a specific school? Shoot us an email (info@DNApodcast.com) and we will work our networks to connect you. Don’t hesitate, we love networking with fellow future genetic counselors!Stay tuned for the next new episode of DNA Today on May 3rd, 2019 with patient advocate and motivational speaker Seth Rotberg who shares his experience with Huntington Disease in honor of awareness month. New episodes are released on the first Fridays of the month and sometimes there are bonus episodes, like this one, on other Fridays! See what else I am up to on Twitter, Instagram, Facebook and iTunes. All questions, comments, and inquiries can be sent to info@DNApodcast.com.

February 2019 See acast.com/privacy for privacy and opt-out information.

This week, part 2 of our 2-part primer on Huntington Disease. Treatment. From tried-and-true therapies to the latest-and-greatest compounds being studied in clinical trials. Enjoy! Produced by James E. Siegler and Stephen Aradi. Music by Mike Durek, Jesse Spillane, Lee Rosevere, Jason Shaw and Dr. Turtle. Sound effects by Mike Koenig, Daniel Simion. BrainWaves' podcasts and online content are intended for medical education only and should not be used for clinical decision making. Be sure to follow us on Twitter @brainwavesaudio for the latest updates to the podcast. REFERENCES Claassen DO, Carroll B, De Boer LM, Wu E, Ayyagari R, Gandhi S and Stamler D. Indirect tolerability comparison of Deutetrabenazine and Tetrabenazine for Huntington disease. J Clin Mov Disord. 2017;4:3. Paulsen JS, Nehl C, Hoth KF, Kanz JE, Benjamin M, Conybeare R, McDowell B and Turner B. Depression and stages of Huntington's disease. J Neuropsychiatry Clin Neurosci. 2005;17:496-502. Bates GP, Dorsey R, Gusella JF, Hayden MR, Kay C, Leavitt BR, Nance M, Ross CA, Scahill RI, Wetzel R, Wild EJ and Tabrizi SJ. Huntington disease. Nat Rev Dis Primers. 2015;1:15005.

You may be able to recognize chorea. But what does it make you think of besides Huntington Disease? In this two part series, we'll cover the clinical manifestations, differential diagnosis, and management of Huntington Disease. In part 1, Dr. Travis Lewis (University of Pennsylvania) creates a framework for hyperkinetic movement disorders and HD. Part 2 will focus on the current and future therapeutics of this neurodegenerative condition. Produced by Travis Lewis & James E. Siegler. Music by Azevedo Silva, Chris Zabriskie, Cullah, John Bartmann, and Nuno Adelaida. Sound effects by Mike Koenig and Daniel Simion. BrainWaves' podcasts and online content are intended for medical education only and should not be used for clinical decision making. Be sure to follow us on Twitter @brainwavesaudio for the latest updates to the podcast. REFERENCES Bates GP, Dorsey R, Gusella JF, Hayden MR, Kay C, Leavitt BR, Nance M, Ross CA, Scahill RI, Wetzel R, Wild EJ and Tabrizi SJ. Huntington disease. Nat Rev Dis Primers. 2015;1:15005. Wild EJ and Tabrizi SJ. The differential diagnosis of chorea. Pract Neurol. 2007;7:360-73. Walker RH. Chorea. Continuum (Minneap Minn). 2013;19:1242-63. Reilmann R, Leavitt BR and Ross CA. Diagnostic criteria for Huntington's disease based on natural history. Mov Disord. 2014;29:1335-41. Ghosh R and Tabrizi SJ. Huntington disease. Handbook of clinical neurology. 2018;147:255-278.

Welcome to a podcast all about Huntington disease (HD). Joining me in this podcast is Senior Social Worker John Conaghan. I love all my guests and love all of my conversations about demystifying genetics, however this podcast feels special. John is such a caring and empathic worker and his kindness shines through in this conversation. We discuss what Huntington disease is and how it affects people with the condition and also the affect it has on their families. John has a long history of working with people and families affected with HD. John was working before the gene for HD was discovered. We talk about what it was like when genetic testing for the HD gene became available. Before direct genetic testing was available, a less sophisticated test called “linkage” was available and John discusses the issues with this type of testing and the hope that came with direct genetic testing. The new hope is that of genetic therapies that may come.

Doug talks about automobile recalls, and Huntington Disease.

1) A Randomized, Double-Blind, Placebo-Controlled Trial of Coenzyme Q10 in Huntington's Disease 2) What's Trending: Risk assessment in Duchenne dystrophy3) Topic of the Month: Neuromuscular medicineThis podcast begins and closes with Dr. Robert Gross, Editor-in-Chief, briefly discussing highlighted articles from the January 10, 2017 issue of Neurology. In the first segment, Dr. Michelle Fullard talks with Dr. Andrew McGarry about his paper on a randomized trial of coenzyme Q10 in Huntington Disease. Dr. Ted Burns talks with Dr. Sindhu Ramchandren about her Neurology: Genetics paper on Duchenne dystrophy for our “What's Trending” feature of the week. In the next part of the podcast Dr. Ted Burns focuses his interview with Dr. Gil Wolfe on myasthenia gravis. Disclosures can be found at Neurology.org.DISCLOSURES: Dr. Burns serves as Podcast Editor for Neurology®; and has received research support for consulting activities with UCB, CSL Behring, Walgreens and Alexion Pharmaceuticals, Inc.Dr. McGarry serves on an advisory board for Teva Pharmaceutical Industries, Ltd.; receives speaker honoraria for Teva Pharmaceutical Industries, Ltd. and ACADIA Pharmaceuticals, Inc.; and has received research support from Teva Pharmaceutical Industries, Ltd. and NINDS. Dr. Ramchandren received research support from the NIH.Dr. Wolfe advises for Grifols, Baxalta, Argenx, and UCB; receives speaker honoraria for Grifols and Baxalta; receives research support from CSL Behring; and serves as Associate Editor for Muscle and Nerve. Dr. Fullard reports no disclosures.

Editor's Audio Summary by Howard Bauchner, MD, Editor in Chief of JAMA, the Journal of the American Medical Association, for the July 05, 2016 issue

Wednesday, May 18 at 1:00 pm PST/4:00 pm EST We are so honored and priviledged to have Dr. Nancy Wexler on Help4HD Live! The "Blond Angel" the "Gene Hunter" as she is so endeard by her subjects, has devoted her life and career as a Geneticist to finding a cure for Huntington's disease which took her mother and many other family members. Find her video interview on One on 1 Profile: Geneticist Dr. Nancy Wexler Leads the Fight Against one of the World's Most Dreaded Hereditary Diseases. Tune in for this momentous interview... Find more informaton about Dr. Nancy Wexler, President of the Hereditary Disease Foundation at http://hdfoundation.org/.    

TUESDAY, OCTOBER 27, 2015 - 3:30PM PST/6:30 PM EST Death with Dignity Law is the topic of our show today. This is not an easy topic to talk about, unless, you are facing an ultimately fatal condition with debilitating pain and suffering which has no hope of improvement or cure. Some say this is a choice that we as humans should have, others say it’s playing God. Today’s discussion is going to take you on a journey to explore your own thoughts about what is right, wrong and what is humane and ultimately if this is something you would even consider. Many states now are signing Death with Dignity Law. Our incredible special guest today is Mr. Alan A. Pfeffer, Esq. who has been lobbying our government to change the criteria for the right to die which is modeled on the Oregon model. Alan says, “I am advocating to get the pending legislation in NY on death with dignity modified so as to permit people with HD to take advantage of the mercy that the legislation is intended to provide. In all the bills throughout the country including what was just passed in California, people with H D are left out.” What? How are people with the worst disease known to man being left out of this law? Well tonight we are going to find out… Help 4 HD International does not advocate for or against the Death with Dignity Law. Only that everyone should be informed about the subject matter presented in order to educate themselves. We thank Mr. Pfeffer for his courage to talk openly about this very sensitive topic.

TUESDAY, SEPT 22, 2015 ~ 2:00 PM PST/5:00 PM EST Tonight we have two of our most favorite incredible special guests, Dr. Karen Elta Anderson, Director at Georgetown/MedStar HD Clinic and Dr. Andrew Feigin, Director at the HD Center North Shore-LIJ Health System. Both are such esteemed medical professionals and well loved by the families whose lives they touch. They are super stars of Huntington’s disease care and clinical trial investigators. We will be talking about LEGATO-HD, the HSG/Teva clinical trial of Laquinimod. This will be a scripted program, but I want our listeners to know that if you have any questions about this program, please feel free to type it into the chatroom here on BlogTalkRadio or Facebook message your questions to me and we will try to get the answers for you.  Tune in for an amazing program to educate and inspire you. For more information about participating in LEGATO-HD study please talk to your physician or you may call the Huntington Study Group at 800-847-7671 or email at info@hsglimited.org

Tuesday, December 16, we are celebrating all of our amazing JHD/HD advocates who give of their time and energy so willingly and freely to make a difference for their loved ones and for our community members who are suffering from Juvenile Huntington's disease and Huntington's disease. Tonight we will be speaking with four incredible special guests: Stacey Sargent, Roberta Brink, Sharon Thomason, and Vicki Owen. We are so excited to be able to show our appreciation for all that they do AND for all that you all do for bringing awareness and advocacy to JHD and HD. Tune in for an incrediblly special program.

Tuesday, December 2, 2014 - 3:30 pm PST/6:30 pm EST Tonight we will be discussing Dr. Goodman's latest article "2014: A Yin-Yang year for HD". She writes: "Particularly during this past year, living with Huntington's disease (HD) has been full of its ups and downs. First there was the hope in ongoing clinical trials of both coenzyme-Q-10 and creatine. Then there was sadness and fear that came with their failures.  And now hope is springing again for new drugs coming to clinical trials now that will take a few years to complete.  No doubt this Yin-Yang cycle will continue for HD, just as it does for other diseases." "However, there may be reason to believe in the chance of greater success this next time around." Read her article: www.HDDrugworks.org Tune in at 3:30 pm PST/6:30 pm EST

This show was pre-recorded. We wish to play this show today as Help 4 HD Director of International Affairs, Daniel Medina is in Mexico City right now visiting Margaret and her center.  Margaret D’Aiuto Martarano de Gallardo was born in California she become a nurse, meet and married her husband Dr. Luis Gallardo Ayala, and moved to Mexico. She has seven children and at the age of 61, her husband is given the news that he might have HD and he passed away in 1992. We are priviledged to interview this amazing woman of 90 years young about her trials and triumps over Huntington's disease and her life of love and commitment to help those who are suffering from Huntington's Diease. She is the Director of Asociación Mexicana de la Enfermedad de Huntington IAP in Mexico http://www.huntingtonmexico.org Hear her story on Help 4 HD Radio!

PRE-RECORDED - TUESDAY, JUNE 17, 2014 Our incredible special guest is Claudia Testa, MD, PhD, Associate Professor of Neurology, and Associate Director of Clinical Research and medical director of the new VCU Parkinson's and Movement Disorders Center. The Center aims to integrate research, clinical care, and education and outreach missions in an interdisciplinary collaborative approach to making a difference in movement disorders. Dr. Testa moved to VCU in 2011, where she is excited to lead a new Huntington disease program. We will be discuss her career of care and research. Read more... After completing her MD and PhD degrees, Dr. Testa returned to Boston for internship at Beth Israel Hospital, then neurology residency in the Partners program at Massachusetts General Hospital and Brigham and Women's Hospital, where she was a chief resident her final year. She moved to Emory University for a movement disorders fellowship and basic research with Dr. Timothy Greenamyre. The HDSA Center of Excellence for Huntington Disease at Emory University was an important part of her growth as a clinician and scientist. Over eleven years at Emory she transitioned from fellow to faculty to medical director of the HDSA Center of Excellence, with involvement in several HSG studies. More recently, to enhance her skills in human disease based research she completed a Masters in Clinical and Translational Research (2012) while a faculty member at Emory University. Between Emory and VCU, she has over 13 years’ experience as an HD clinical study investigator, working with symptomatic, pre symptomatic, and HD at risk research participants. Her current research interests are in genetic causes and risks for essential tremor, Huntington disease pre-motor physiology changes, and Huntington disease observational and treatment trials.

TUESDAY, AUG 19, 3:30 PM PST/6:30 PM EST - Call in: 310-982-4227 or toll free: 877-497-4103 Tonight our incredible special guest is the intelligent and beautiful Mona Gable, a freelance writer in Los Angeles and the author of “Blood Brother: The Gene That Rocked My Family.” The book is available on SheBooks.net. It’s a short read, but it’s very power packed with accounts of her personal journey with Huntington’s disease and important facts about the disease. It’s a must-must read! Mona has also written an article titled: “Speaking out about living in silence with an incurable disease” posted on August 3 by the Sacramento Bee and recently posted on The Huntington’s Post: http://www.thehuntingtonspost.org/MonaGable1 Mona Bable an accomplished and published author of "Blood Brother" will be with us to talk about her journey with family members and Huntington's disease. Find "Blood Brother" on SheBooks.net: https://bookstore.shebooks.net/product/blood-brother/#.U_N0WUhGwXw  

TUESDAY, AUG 5, 2014 - 3:30 PM PST/6:30 PM EST Swallowing difficulty and Huntington's disease Posted August 3, 2014, by LaVonne Goodman, M.D. Dysphagia, or difficulty swallowing, is a big problem in Huntington's disease (HD), but surprisingly little is known about it.  It is not known how early it begins, or how symptoms and swallowing dysfunction progress over the stages of HD.  Further, even less is known about techniques that might prevent, alleviate or treat it.  As such, we welcome the recent attention given this symptom by investigators from Europe. READ THE ARTICLE -- LISTEN TO THE SHOW...

Tonight we will talk about preimplantation genetic diagnosis or (PGD) for Huntington’s disease with Dr. Goodman. Read her article on www.HDDrugworks.org titled: PGD for the Prevention of HD. http://hddrugworks.org/index.php?option=com_content&task=view&id=336&Itemid=30         She writes… “For more than a decade, couples at risk for Huntington's disease have had the option to conceive an unaffected child by utilizing the reproductive process of preimplantation genetic diagnosis (PGD).  If PGD became common practice in HD, it could eliminate the majority of disease for the next generation.  So if PGD has the potential to mostly "wipe out" HD for the next generation, why is it so rarely utilized?” We will discuss the pros and cons of this novel approach to eliminating HD for every in the generations to come. Tune in to a very interesting and informative program with Dr. LaVonne Goodman.

TUESDAY, JUNE 17, 2014 Our incredible special guest is Claudia Testa, MD, PhD, Associate Professor of Neurology, and Associate Director of Clinical Research and medical director of the new VCU Parkinson's and Movement Disorders Center. The Center aims to integrate research, clinical care, and education and outreach missions in an interdisciplinary collaborative approach to making a difference in movement disorders. Dr. Testa moved to VCU in 2011, where she is excited to lead a new Huntington disease program. We will be discuss her career of care and research. Read more... After completing her MD and PhD degrees, Dr. Testa returned to Boston for internship at Beth Israel Hospital, then neurology residency in the Partners program at Massachusetts General Hospital and Brigham and Women's Hospital, where she was a chief resident her final year. She moved to Emory University for a movement disorders fellowship and basic research with Dr. Timothy Greenamyre. The HDSA Center of Excellence for Huntington Disease at Emory University was an important part of her growth as a clinician and scientist. Over eleven years at Emory she transitioned from fellow to faculty to medical director of the HDSA Center of Excellence, with involvement in several HSG studies. More recently, to enhance her skills in human disease based research she completed a Masters in Clinical and Translational Research (2012) while a faculty member at Emory University. Between Emory and VCU, she has over 13 years’ experience as an HD clinical study investigator, working with symptomatic, pre symptomatic, and HD at risk research participants. Her current research interests are in genetic causes and risks for essential tremor, Huntington disease pre-motor physiology changes, and Huntington disease observational and treatment trials.

Apr 23, 2014 Podcast: The Science of the Runner's High, Is Vitamin B12 Megadosing Dangerous, How To Track Every Element Of Your Fitness, Healing The Skin Naturally, and Is Creatine Safe? Have a podcast question for Ben? Click the tab on the right, use the Contact button on the app, call 1-877-209-9439, Skype “pacificfit” or use the “” form...but be prepared to wait - we prioritize audio questions over text questions. ----------------------------------------------------- News Flashes: You can get these News Flashes hot off the presses if you follow Ben on , and . (Ben recommends this ) ----------------------------------------------------- Special Announcements: Join now for just ten bucks a month and learn by example! We have 2 Color run race entries to giveaway for any event near you! Check locations at . To win, all you need to do is and comment on the letting Ben know that you left a review! We will randomly choose two lucky winners later this week! Get a free gift 2 hour Beyond Training LIVE support video workshop with Ben Greenfield! , along with your name and e-mail below, and we’ll make the magic happen for you! Men's Health is launching a search for the next big name in fitness. They're looking for the best trainer that they haven’t yet discovered – a fitness professional who is a top mind in the field, but who also looks the part, and who has the ability to captivate any audience. or visit . Grab this package that comes with a tech shirt, a beanie and a water bottle. And of course, this week's top iTunes review - gets some BG Fitness swag straight from Ben - !   ----------------------------------------------------- Listener Q&A: As compiled, deciphered, edited and sometimes read by , the Podcast Sidekick/Ninja. The Science of the Runner's High Celia asks: She is looking for a "Runner's High". She's been running since 2012 and has only experienced it a few times (with no common denominator or trigger). Do you know what causes the high and how she might be able to create one? She usually doesn't have trouble getting out the door for a training session but she can see how that might be a good motivator. In my response I recommend: Paper - - Is Vitamin B12 Megadosing Dangerous? Jim asks: He has never heard us talk about mega-dosing with Vitamin B12. He is training hard and long for Ironman. He uses a drink called which has 41000% of the RDA of B12. The drink tastes good and it seems to give him an energy boost... but it could be placebo. In my response I recommend: - - How To Track Every Element Of Your Fitness Todd asks: He made a commitment to himself to be in better shape at 50 than he currently is at 46. He did the same thing at 30 for 35 and 35 for 40. He is looking for a quantifiable criteria or some number of metrics that he can test himself for, every couple of years, so it isn't just subjective. In my response I recommend: - - -HRV and Pulse Oximeter testing as described in - -Mark's Daily Apple "" Best Natural Foods for Babies Emilie asks: What food would you and Jessa introduce babies to, as they move towards the world of solid food, and in what order? Also, is there any point in introducing them to gluten at all so they might be able to tolerate it later on? In my response I recommend: - Healing The Skin Naturally Allysa asks: She has the skin condition Keratosis Pilaris (unsightly red bumps or "chicken skin") on her upper arms. Some people grow out of it but she is 26 and doesn't think that will happen. Do you know the etiology of this? Is it a dietary, allergy, or hormone imbalance? Do you know of any food, creams or anything else that can help out with it? In my response I recommend: -Book: - - -Liver or - from avocado oil Is Creatine Safe? Hank asks: He is looking for a really pure source of Creatine. Members of his family have the gene for Huntington Disease. While there is no cure for it, he has seen a study where they slowed the progress of Huntingtons by giving participants 15-30 grams of creatine. That is a HUGE amount of so he is looking for a reputable, good, safe, concentrated source. Also, is there anything they or their GPs should watch for when taking such high doses of creatine? In my response I recommend: - - ----------------------------------------------------- -- And don't forget to go to -- Prior to asking your question, do a search in upper right hand corner of this website for the keywords associated with your question. Many of the questions we receive have already been answered here at Ben Greenfield Fitness! Podcast music from 80s Fitness (Reso Remix) by KOAN Sound. !

PRE-RECORDED TUESDAY, July 9, 2013 Tonight our incredible special guest is Emily Fisher, MSc Medical Genetics, Centre for Molecular Medicine and Therapeutics at the University of British Columbia. In 2012, Emily Fisher completed her Master's degree in science specializing in Medical Genetics at the University of British Columbia. Emily's thesis project focused on the epidemiology of HD. This is very important work and we are going to find out what that means to us. Her study was conducted in British Columbia, Canada, and provided much needed information required in order to inform community-specific service needs and to plan appropriately for clinical trials and distribution of upcoming therapies. Tune in for a very informative program.

Interview with E. Ray Dorsey, MD, MBA, author of Natural History of Huntington Disease

Tonight our incredible special guest is Dr. Ira Shoulson founder of the Parkinson Study Group and the Huntington Study Group. Be sure to listen to our first interview with Dr. Shoulson on May 9, 2011. Dr. Shoulson is Professor of Neurology, Pharmacology and Human Science and Director of the Program for Regulatory Science and Medicine (PRSM) at Georgetown University.