Ataxia: Diagnosis & Management

Podcast Transcript

Neuro Pathways Podcast Series

Release Date: May 1, 2025
Expiration Date: April 30, 2026

Estimated Time of Completion: 30 minutes

Ataxia: Diagnosis & Management
Odinachi Oguh, MD

Description
Each podcast in the Neurological Institute series provides a brief, review of management strategies related to the topic.

Learning Objectives

• Review up to date and clinically pertinent topics related to neurological disease
• Discuss advances in the field of neurological diseases
• Describe options for the treatment and care of various neurological disease

Target Audience
Physicians and Advanced Practice providers in Family Practice, Internal Medicine & Subspecialties, Neurology, Nursing, Pediatrics, Psychology/Psychiatry, Radiology as well as Professors, Researchers, and Students.

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  Cleveland Clinic Center for Continuing Education designates this enduring material for a maximum of 0.50 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
  
  Participants claiming CME credit from this activity may submit the credit hours to the American Osteopathic Association for Category 2 credit.

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  Cleveland Clinic Center for Continuing Education designates this enduring material for a maximum of 0.50 ANCC contact hours.

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Podcast Series Director
Andreas Alexopoulos, MD, MPH
Epilepsy Center

Additional Planner/Reviewer
Cindy Willis, DNP

Faculty
Odinachi Oguh, MD
Cleveland Clinic Lou Ruvo Center for Brain Health

Host
Glen Stevens, DO, PhD
Cleveland Clinic Brain Tumor and Neuro-Oncology Center

Agenda

Ataxia: Diagnosis & Management
Odinachi Oguh, MD

Disclosures

In accordance with the Standards for Integrity and Independence issued by the Accreditation Council for Continuing Medical Education (ACCME), The Cleveland Clinic Center for Continuing Education mitigates all relevant conflicts of interest to ensure CME activities are free of commercial bias.

The following faculty have indicated that they may have a relationship, which in the context of their presentation(s), could be perceived as a potential conflict of interest:

Odinachi Oguh, MD	Sunovion Teaching and Speaking
Glen Stevens, DO, PhD	DynaMed Consulting

All other individuals have indicated no relationship which, in the context of their involvement, could be perceived as a potential conflict of interest.

CME Disclaimer

The information in this educational activity is provided for general medical education purposes only and is not meant to substitute for the independent medical judgment of a physician relative to diagnostic and treatment options of a specific patient's medical condition. The viewpoints expressed in this CME activity are those of the authors/faculty. They do not represent an endorsement by The Cleveland Clinic Foundation. In no event will The Cleveland Clinic Foundation be liable for any decision made or action taken in reliance upon the information provided through this CME activity.

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Go to: Neuro Pathways Podcast May 1, 2025 to log into myCME and begin the activity evaluation and print your certificate If you need assistance, contact the CME office at myCME@ccf.org

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Glen Stevens, DO, PhD: Ataxia encompasses a diverse group of disorders affecting coordination, balance, and speech, presenting unique diagnostic challenges. In today's episode, we aim to provide a comprehensive review of the various forms of ataxia, shedding light on the nuances in their identification and the efficacy of multidisciplinary care to manage this challenging condition. I'm your host, Glen Stevens, neurologist, neuro-oncologist in Cleveland Clinic's Neurological Institute. I'm very pleased to be joined by Dr. Odinachi Ogu. Dr. Ogu is a fellowship-trained movement disorders neurologist at Cleveland Clinic Nevada. Odi, welcome to Neuro Pathways.

Odinachi Ogu, MD: Thank you. Thank you for having me today.

Glen Stevens, DO, PhD: So Odi, for myself and for our audience out there, tell us a little bit about your background and how you made it to Nevada and what you do on a regular basis.

Odinachi Ogu, MD: So, I'm actually originally from Nigeria. So, I did go to medical school in Europe and after that did my training at the University of Illinois, as well as fellowship at Northwestern. So, that's certainly my educational background. And, I actually practiced with the University of Florida for seven years prior to joining Cleveland Clinic and have been with Cleveland Clinic for about five and a half years. So, as you quite know, I am a fellowship-trained movement disorder neurologist. So, I am certainly very much clinic-based to have some research, but very much clinic-based. So, my day-to-day really entails seeing a host of variety of movement disorders. But certainly, my interests are some of the atypical movement disorders we don't tend to see, such as atypical parkinsonisms and all ataxia, which is often some of the less known diseases in movement disorder; and Huntington's, are where some of my special interests lie.

Glen Stevens, DO, PhD: Well, I'm always excited to talk to a movement disorders person because I'm not very good at movement disorders. So, I'm always really glad that there's people that are very good with movement disorders. So, we appreciate what you do on a daily basis. So, today, we're going to talk specifically about ataxia. Just define for us, what is it? I mean, I think people know it when they see it, type of thing. But, we have a broad audience. So, what is ataxia, and how can it present?

Odinachi Ogu, MD: Ataxia is really just a definition of a clinical symptom. Ataxia is a clinical symptom that presents with incoordination as the primary motor symptoms. So, it is an incoordination of gait, incoordination of movement in the upper extremities. So, there's an incoordination of dexterity movements in upper extremity and incoordination of speech. So, I often describe it to my students and residents, I think the most common form of ataxia is alcohol-induced ataxia. So, if you have ever experienced that type of ataxia, then you have had ataxia. So, again, that is certainly the most common form of ataxia we see, and we often indulge in. But that is, in any sense, an incoordination of movements.

Glen Stevens, DO, PhD: Well, of course, I'm a teetotaler, so I don't know what you're talking about. But, I have seen this happen in friends of mine. So, I understand what it looks like. So, I appreciate that. But it's a good way to put it because everybody can relate to that.

Odinachi Ogu, MD: Yes, yes.

Glen Stevens, DO, PhD: So, lots of different causes of ataxia. Can you go through some of the groups of disorders that cause ataxia?

Odinachi Ogu, MD: Causes of ataxia can be very vast. So, I tend to break it down into what I call symptomatic ataxias. Perhaps that might be of interest to you as the most common ones are what we see in that perineoplastic ataxia. So, perineoplastic ataxias, they're autoimmune disorders that are sometimes triggered by some form of neoplastic process, but that's not always the case where neoplastic process triggers it. But typically, these are what we call much more subacute onset of ataxia. Then you do have the most common ones, which we see in acute strokes, in cerebellar strokes. So, suddenly those are some of the more symptomatic ataxias.

And then, you have the other types of ataxias, which are much more chronic, much more slowly progressive, and happens over decades and years. Typically, those ones are much more either hereditary ataxias. So, we are talking about either the autosomal dominant or autosomal recessive ataxias, and we often forget the mitochondrial ataxias, as well. So, those certainly fall under some of the genetic or inherited ataxia.

And then, you have the neurodegenerative ataxias. Those typically come under the diseases that I call them “sisters or cousins of Parkinson's,””” like multiple system atrophy where you have a cerebellar subtype and oftentimes you can have a host of parkinsonism and cerebellar symptoms in the same patient. That makes up the most common form of neurodegenerative ataxias.

And then, you have those we don't know what the answer is, which is that idiopathic or sporadic ataxias. But, I know there's a lot of data now looking at idiopathic ataxias, and perhaps some of that is... 50% of those patients turn out to be neurodegenerative ataxias like MSAC. So, again, this is a simplistic classification, but it gets you to have an overview of what ataxia is and the various etiological causes of ataxia.

Glen Stevens, DO, PhD: Yeah, and I guess the unifying issue is that the cerebellum or the cerebellar connections are interrelated with all of these. But, I'm very excited about the fact that you mentioned paraneoplastic first, and you're just probably appeasing me since I'm a neuro-oncologist, but you do make me happy when you mention that. And I recall back 30 some odd years ago, I got called to the emergency department to see a young woman, and she was having significant ataxia. I mean, the head was moving all around, the eyes were moving all around, she couldn't maintain upward balance. The teaching is always, if you wait for the antibodies to come back, too much damage is going to be done.   So, you need to treat early. We obviously scanned her. She didn't have a stroke in the cerebellum, she didn't have a tumor. But, we sent off the antibodies, which turned out to be positive, and we treated her immediately with steroids and IVIG. And she quickly got better, and then we put her on other immune suppression medications, but I guess the take-home point for the perineoplastic is you have to have a very high index of suspicion and treat early with those patients.

Odinachi Ogu, MD: Yes, very much so. We do know that the time of the onset of symptoms, the longer you wait, the longer the damage. And the less the recovery of the patient. So, treating early is so much more important in those very much symptomatic ataxias.

Glen Stevens, DO, PhD: I'm just curious whether or not you see much of this anymore, but do you see B12 deficiencies? Do you see vitamin E deficiencies causing ataxia or are these things mostly of the past?

Odinachi Ogu, MD: I think we still see them. There's actually a very unique type of genetic ataxia. It's a genetic ataxia associated with a vitamin D deficiency in which there is an enzymatic loss in the metabolism of vitamin E. It's very rare, but we do see it. Typically, you just replace vitamin E in those patients and they do get better. But symptomatic causes of vitamin E deficiency and B12 causing ataxia, I don't see them as frequent. Typically, a general neurologist will be able to detect that and treat it before they get to me.

Glen Stevens, DO, PhD: Yeah. And of course, we don't see it so much anymore, but I remember in the old days we used to see more phenytoin-related toxicity. The phenytoin, as you recall, affects the Purkinje cells in the cerebellum. A lot of children with developmental abnormalities would be... There weren't a lot of options, phenobarb and phenytoin back in the day. So, we would see cerebellar atrophy in these folks and pretty significant ataxia. But with the newer generation medications, fortunately, some of that iatrogenically induced ataxia, we fortunately see less of.

MS, I always find interesting, can also cause ataxia. Is it primarily a white matter abnormality, or what's it affecting with the MS with the ataxia?

Odinachi Ogu, MD: It is mostly a white matter abnormality. We do see lesions in the cerebellum in MS, but we do know there's a lot of data on gray matter being affected in MS, as well. But it is a primarily white matter and lesional ataxia where there are lesions in the cerebellum.

And it's not just the cerebellum. It could be other extra cerebellar pathways like the pons and the medullar can be involved, as well. Those patients will present with ataxia, as well.

Glen Stevens, DO, PhD: On an exam, what are you looking for that tells you it's an ataxia versus some other type of movement disorder?

Odinachi Ogu, MD: That's very interesting. I think the most common misnomer is vestibular symptoms. So, sometimes I get patients who come in with a referral for ataxia, but all they have is vestibular. But the key finding in ataxia is that you do want to see both upper and lower body symptoms. So, you do want to see gait. So, typically their gait are wide based... and wide-based gait is typically... usually a non-tandem gait. So, they can walk a straight line, as well as you want to do some stress gait examination to define how they compensate during stress gait. So, typically, an ataxia patient who has the inability to compensate during stress gait, and they probably will fall or lose their balance very quickly.

And then, in the upper body symptoms, you're looking for things like dysmetria. So, you do that by the finger-to-nose test, diadochokinesis, which is irregular movements with just a rapid alternating movement when you have them roll their hand together. And sometimes you can see intentional tremors. So, intentional tremor is very different from a resting or postural tremor. In ataxia, the tremor is at the end point of movement. So, when you have them do that finger-to-nose as they get to that end point, either their nose or my finger, you can see that tremor at the point of intention.

But there are also other bulbar symptoms that we tend to see in ataxia. So, you do have dysfunction of saccades. So, saccades is how rapidly your eyes can go from point A to point B. So, saccades can be very slow or interrupted saccades. Or you can see the nystagmus, which is that jerky eye movements. Usually, when it's more central, it's more torsional. So, there's a torsion to the eye movements, as well as changes in speech. So, that slurring of the speech can be very unique and you catch that even before the exam, like just talking to the patient and getting a history and noticing their speech. As a movement disorder physician, I start my examination as soon as the patient walks into the room.

Glen Stevens, DO, PhD: Yeah, I think they always would say, if you could only do one test, you just watch the patient walk.

Odinachi Ogu, MD: Correct, yes.

Glen Stevens, DO, PhD: Now, you know, that's harder to do with a lot of virtual visits or patients are already in a room. But, same thing back in the old days, we used to bring the patients back and you'd walk with them and you could actually have a pretty good exam.

My kids would always joke that when they were young and we were out, I'd always say to them, "See that person over there? What's their neurologic disorder?" My kids got very good at diagnosing all kinds of... I guess who knows if they're right or not, just based on what I thought it was, but they could diagnose a lot of disorders just watching people walk.  

Odinachi Ogu, MD: Yeah, I mean, I think your gait is the biggest asset of a movement disorder physician. I remember as a fellow, I would watch people walk in the airport just recognizing their stance, their stride, their hand swing, their posture. So, all those things are so important to movement disorders.

Glen Stevens, DO, PhD: But you have to remember to never go say anything to anybody.

Odinachi Ogu, MD: No, never go say anything to anybody. Yes.

Glen Stevens, DO, PhD: Generally with ataxias, they call it what a scanning speech, right? The very staccato-type speech pattern.

Odinachi Ogu, MD: Correct, yes.

Glen Stevens, DO, PhD: I'm sure it's interesting you said you see a number of people that have vertigo or those types of things. I'm sure that gets a little mixed up early on, right?

Odinachi Ogu, MD: Yeah, they're mixed up early on. As we age, a lot of people will get vertigo disequilibrium, which is different from vertigo, but still within that family of vestibular disorders and the teetering of their gait, which is very different from what ataxia is. So, yeah, sometimes you get primary doctors or general neurologists that would just call everything that doesn't work properly ataxia and send it to you.

Glen Stevens, DO, PhD: Yeah. I'm sure that like a lot of things, taking a good, detailed history will give you the answer the vast majority of the times or at least really be able to pigeonhole where you're going to do your testing. You don't need to do vitamin E and B12 and all that stuff on everybody, although we always like to look for the treatable disorders, right?

Odinachi Ogu, MD: Yeah. I am a stickler for traditional examination. You gain so much from talking to a patient and doing a full neurological examination, and then that drives your diagnostic algorithm. If you are just looking for everything under the bar, you might miss your direction. So, I think to be a traditionalist in that aspect.

Glen Stevens, DO, PhD: I'm sure most people end up, you know, if it's a persistent or a serious problem, will get imaged to make sure they don't have a tumor, a stroke, some other type of a process?

Odinachi Ogu, MD: Yeah, I certainly think that the imaging tells you a lot. I do a brain image for any patient I am thinking about ataxia because based on the image, you can tell, is this a chronic progressive condition? Has this been more acute or subacute? Those things can be seen on an MRI, and patients who have much more of a hereditary or chronic progressive ataxia, they do have a much more cerebellar volume loss compared to a patient who is either an acute or subacute. Then you can see lesion or lesional in cerebellum if there's other lesional causes of this ataxia.

Glen Stevens, DO, PhD: Obviously, if they have a nutritional problem, you correct the nutritional problem. But treatment options for ataxia caused by a stroke or some other process, what can we do for these folks?

Odinachi Ogu, MD: So again, if it's a more acute symptomatic, I think that, of course, we are treating the stroke acutely if they're within the timeframe to get acute therapy. But I think the long run is going to be a lot more physical therapy. And in terms of improving their function after a stroke. Of course, we are making sure we are treating the modifiable risk factors in patients that have strokes. So, those are certainly important. As we earlier mentioned in other paraneoplastic disorders, we are treating early with immune therapy.

We've come such a long way in treating those patients, not just with IVIG and plasmic change in the acute setting, but also long-term because we do know that a lot of these patients don't resolve completely because the autoantibodies may not completely go away. So, you may need long-term immune therapy, whether we are doing things like rituximab or oral steroid-sparing agents. It is certainly important to treat autoimmune movement disorders long-term because again, autoantibodies don't always completely go away, even after acute treatment.

Glen Stevens, DO, PhD: Part of the diagnostic workup, most people probably don't need a spinal tap. But, if we're concerned about a paraneoplastic disorder they would, or some type of infectious etiology, they may require a lumbar puncture to look at the CSF, although most probably don't.

Odinachi Ogu, MD: Yeah, I tend to stick to doing the spinal tap actually in those patients because we want to also make sure that they do have antibodies in CSF as well as in blood. If I am just doing a screening and I'm not quite sure if they do have it but want to be part of a symptomatic exclusion, I would just do a blood test. But I think a spinal tap gives you a lot more information in terms of detecting perineoplastic disorder.

Glen Stevens, DO, PhD: Yeah. Certainly, if you're concerned it's perineoplastic, I agree with you. You need to look for a pleocytosis and then send off the antibodies.

So, let's shift our gears over to the hereditary side of things. I remember these back from when I took boards decades ago. You know, the autosomal recessive disorders and the most frequent one that you hear about is Friedreich's ataxia. So, tell us a little bit about Friedreich's ataxia.

Odinachi Ogu, MD: So I'll go back a little bit. In terms of the autosomal recessive ataxia, even though Friedreich's ataxia is far more common, there is a wide variety of newly discovered recessive ataxias as well, even in adults who might show adult onset diseases of cerebellar dysfunctions. So, though Friedreich's ataxia is most common, there are all the recessive forms. But Friedreich's ataxia is of course the most common form of autosomal recessive ataxia. When we talk about autosomal recessive ataxia, it means that both parents wear carriers of the gene and the child carries the gene at a 25% chance per child.

I often tell patients that Friedreich's ataxia is actually a much more sensory ataxia. It starts off as a loss of sensation in the lower extremities where you lose much more of that large fiber loss in sensation. So, we talk about vibration, we talk about proprioceptive loss, then followed by small fiber loss like pinprick and touch. And then that progresses to a much more gait ataxia, cerebellar ataxia after a while.

And in Friedreich's ataxia, they can have other comorbid or I would say multi-system involvement. The most common in Friedreich's ataxia is involvement of your cardiovascular region or your cardiac function. We are certainly much better in reducing sudden death, which was one of the things in Friedreich's ataxia, sudden death from cardiac dysfunction. We are much better in protecting those patients. But one of the classic, I guess, questions would be, "What is that ataxia that is associated with sudden cardiac death?" It used to be Friedreich's ataxia.

Glen Stevens, DO, PhD: And my recollection is that the disorder is in a FXN gene that affects mitochondrial oxidative stress. So, it's getting right to the mitochondria causing the problem. I always remembered it as you mentioned because it's a central and a peripheral problem.

Odinachi Ogu, MD: Correct. Exactly.

Glen Stevens, DO, PhD: They lose their reflexes, all those types of things. So, there was some exciting news in 2023, the FDA came out with a drug. Have you used the drug? Can you talk about it at all?

Odinachi Ogu, MD: Yes, I have used the drug. So, the name of the drug is omaveloxolone. It is a drug that was approved, I want to say, about a year or two ago, and it's one of the drugs that suddenly reduces the frataxin gene and reduces the morbidity from all the toxicity caused by the frataxin gene with the drug also targeting mitochondrial function, as well, in patients with Friedreich's ataxia.

The clinical studies were quite exciting in that no matter how long patients who had Friedreich's ataxia who were on this medication showed improvement in the burden of their clinical symptoms. I've had a few patients on the medication and I do see some improvement, but like all medications, it doesn't come without its own side effects profile. A lot of the side effects tend to be GI and sometimes can be unbearable for patients. But it is a drug that does carry a lot of promise for patients with Friedreich's ataxia.

Glen Stevens, DO, PhD: Well, it's at least exciting that these disorders that we've known for so long are at least starting to get the first-generation medications that are coming out, and we all know that it will just open up the gateway for newer, better, well-tolerated medications. So, I'm excited about that. The one that I always remember that I don't think I ever saw a patient with it is the ataxia-telangiectasia. Any comments on that?

Odinachi Ogu, MD: Yeah, it's a recessive ataxia. It is one that you see in children as young as three years old. So, when that child begins to walk, you will see signs of ataxia. But it also has other systemic manifestations as well, which include involvement of your other immune systems. So, high risk of infection because of their poor immune response. So, in addition to ataxia, you certainly see a lot more variety of other infections in these patients with ataxia-telangiectasia, but typically you see this in young children.

One of the things I wanted to point out is I have actually seen older patients with ataxia-telangiectasia either as a variant mutation or point mutation. So, even though our knowledge is that it's limited to young kids, there are some adults that certainly can present with ataxia-telangiectasia with very different symptoms, as well, which primarily they do have ataxia, but a quite more rapid progressive ataxia as they get much older.

Glen Stevens, DO, PhD: So as we're getting close to the end here, we'll finish with the autosomal dominant spinal cerebellar ataxias, which it seems like every other month there's another one that comes. No fun. I don't know how you keep up with them, but I guess if you want to have something named after you, you could probably pick the next one. But tell us just a little bit about those.

Odinachi Ogu, MD: I mean it is. The numbers are increasing. I don't know the last time I checked whether it's up to 30, but I think the overview of SCA or SCAR as we call it, is that it is autosomal dominant. So, you do have a parent that will have ataxia. So, it is inherited based on the fact that you have one parent. But there's also a very interesting phenomenon that has also happened in autosomal ataxia is you can have a strike of lightning and get autosomal dominant ataxia.

I had a patient with SCA-8, she had no family history. Again, it could be that. She never knew, but she was very clear none of her parents had symptoms and came in at the age of 78 or so with ataxia and had MRI findings of volume loss in her cerebellum and found that she did have SCA-8.

So, you can certainly see these patients that are coming with a strike of lightning, and they have an autosomal dominant ataxia, and they become the first prototype in their family. But again, you do see that with autosomal dominant ataxia. There is a wide variety of SCARS. But the primary symptom is ataxia, whether you have gait ataxia, appendicular ataxia, and all the other symptoms we do see in Ataxia. There are some important differences in some Ataxia like SCA-3 that has parkinsonism as part of their ataxia, or SCA-10 that has seizures as part of their ataxia. So, there are some slight differences in each ataxia that we do see. But yes, it is a vast body of ataxias to some other dominant ataxia. I think we need another 30 minutes to talk about it.

Glen Stevens, DO, PhD: Yeah, I'm glad I don't have to take exams anymore, but some of them are trinucleotide repeats. So, I guess it depends on how many repeats that you have in terms of severity of your disease.

Odinachi Ogu, MD: So SCA-3 is a trinucleotide repeat ataxia. So, certainly, as we tried nucleotide... the higher the amount of repeats, it's inversely related to the onset of disease.

Glen Stevens, DO, PhD: Okay. Well, listen, Odi, I want to thank you for taking the time to educate us on this phenomenon and we appreciate all you're doing for patients with ataxia, and it's nice to be able to meet you and we appreciate your expertise.

Odinachi Ogu, MD: Thank you so much for having me. I truly appreciate being here today.

Closing: This concludes this episode of Neuro Pathways. You can find additional podcast episodes on our website, clevelandclinic.org/neuropodcast, or subscribe to the podcast on iTunes, Google Play, Spotify, or wherever you get your podcasts. And don't forget, you can access real-time updates from experts in Cleveland Clinic's Neurological Institute on our Consult QD website. That's @CleClinicMD, all one word. And thank you for listening.