Monogenic Mimics of Neuroinflammatory Phenotypes in Children and Young Adults - Part 2
Release Date: 01/15/2026
Neurology Minute
In part two of this four-part series, Casey Kozak discusses Hover's sign, the most well-known test for FND. Show transcript: Casey Kozak: Welcome back to Neurology Minute. My name is Casey Kozak with Rutgers, and today we're continuing our examination of functional neurological disorder. That is physical examination. This episode is dedicated to Hoover's sign, probably the most well-known test for FND, and in my humble opinion, one of the most confusing maneuvers to learn. So today, we're going back to the origin using Dr. Charles Franklin Hoover's original description. Maybe...
info_outlineNeurology Minute
In part one of this four-part series, Casey Kozak breaks down tremors observed during the physical examination of FND. Show transcript: Casey Kozak: Welcome back to Neurology Minute. This is Casey Kozak with Rutgers, and today we'll be discussing a very important and evolving topic, that is Functional Neurological Disorder, or FND. If you're a regular fan of the Minute, you'll have already heard a great miniseries on FND by Jon Stone and Gabriela Gilmour, which focuses on diagnosis and treatment. If you haven't listened yet, I encourage you to check it out. In this series, we're...
info_outlineNeurology Minute
Dr. Margarita Fedorova discusses possible environmental exposures and their risk of Parkinson disease. Show citation: Dorsey ER, De Miranda BR, Hussain S, et al. Environmental toxicants and Parkinson's disease: recent evidence, risks, and prevention opportunities. Lancet Neurol. 2025;24(11):976-986. doi: Show transcript: Dr. Margarita Fedorova: Welcome to Neurology Minute. My name is Margarita Fedorova and I'm a neurology resident at the Cleveland Clinic. Today, we're reviewing some information about possible environmental exposures and their risk of Parkinson disease....
info_outlineNeurology Minute
In the second episode of this two-part series, Drs. Justin Abbatemarco, Valérie Biousse, and Nancy J. Newman discuss the risk of non-arteritic ischemic optic neuropathy and how to counsel patients around GLP-1 medications. Show transcript: Dr. Justin Abbatemarco: Hello and welcome back. This is Justin Abbatemarco again with Valarie Biousse and Nancy Newman talking about non-arteritic ischemic optic neuropathy. I think the other major point that we had a discussion in the podcast was around the GLP-1 medications, which you mentioned have been truly life-changing for diabetes...
info_outlineNeurology Minute
In part one of this two-part series, Drs. Justin Abbatemarco, Valérie Biousse, and Nancy J. Newman discuss common myths around non-arteritic ischemic optic neuropathy (NAION). Show transcript: Dr. Justin Abbatemarco: Hello and welcome. This is Justin Abbatemarco, and I just got done interviewing Valérie Biousse and Nancy Newman on all things around non-arteritic anterior ischemic optic neuropathy. I think one of my favorite takeaways from our interview were breaking some common myths around this disorder. Valérie and Nancy, could you maybe talk about one or two that you think are...
info_outlineNeurology Minute
In part one of this two-part series, Drs. Justin Abbatemarco, Valérie Biousse, and Nancy J. Newman discuss common myths around non-arteritic ischemic optic neuropathy (NAION). Show transcript: Dr. Justin Abbatemarco: Hello and welcome. This is Justin Abbatemarco, and I just got done interviewing Valérie Biousse and Nancy Newman on all things around non-arteritic anterior ischemic optic neuropathy. I think one of my favorite takeaways from our interview were breaking some common myths around this disorder. Valérie and Nancy, could you maybe talk about one or two that you think are...
info_outlineNeurology Minute
Dr. Margarita Fedorova outlines how genetic, environmental, and pathological factors interact in Parkinson’s disease and what this means for patient counseling. Show citation: Blauwendraat C, Morris HR, Van Keuren-Jensen K, Noyce AJ, Singleton AB. The temporal order of genetic, environmental, and pathological risk factors in Parkinson's disease: paving the way to prevention. Lancet Neurol. 2025;24(11):969-975. doi: Show transcript: Dr. Margarita Federova: Welcome to Neurology Minute. My name is Margarita Fedorova, and I'm a neurology resident at the Cleveland Clinic....
info_outlineNeurology Minute
Dr. Tesha Monteith highlights the American Headache Society's position statement, which advocates for migraine screening in girls and women. Show citation: Schwedt TJ, Starling AJ, Ailani J, et al. Routine migraine screening as a standard of care for Women's health: A position statement from the American Headache Society. Headache. Published online December 10, 2025. doi: Show transcript: Dr. Tesha Monteith: Hi, this is Tesha Monteith with the Neurology Minute. Welcome back to our Women's Health and Headache Medicine series. Did you know the American Headache Society recently...
info_outlineNeurology Minute
In the final installment of this series, Dr. Justin Abbatemarco and Dr. Divyanshu Dubey discuss the latest findings and some non-occupational exposures. Show citation: Hinson SR, Gupta P, Paramasivan NK, et al. Neural synaptic vesicle autoimmunity following aerosolized porcine neural tissue exposure: insights into autoimmune inflammatory polyradiculoneuropathy. EBioMedicine. 2025;122:106053. doi: Show transcript: Dr. Justin Abbatemarco: Hello, and welcome back. This is Justin Abbatemarco. I'm here with Divyanshu Dubey, discussing his article, Neural Synaptic...
info_outlineNeurology Minute
In part one of this two-part series, Dr. Justin Abbatemarco and Dr. Divyanshu Dubey discuss the original patient cohort with occupational exposure, what motivated this line of research, and the key findings from the initial workup. Show citation: Hinson SR, Gupta P, Paramasivan NK, et al. Neural synaptic vesicle autoimmunity following aerosolized porcine neural tissue exposure: insights into autoimmune inflammatory polyradiculoneuropathy. EBioMedicine. 2025;122:106053. doi: Show transcript: Dr. Justin Abbatemacro: Hello and welcome. This is Justin Abbatemacro. And I'm...
info_outlineIn the second installment of this two-part series, Drs. Stacey Clardy, Ayush Gupta, and Kuntal Sen discuss the most practical testing approach to minimize both under‑ and over‑testing for these disorders.
Show citation:
Gupta A, Sahjwani D, Kahn I, Gombolay GY, Sen K. Monogenic Mimics of Neuroinflammatory Phenotypes in Children and Young Adults: An Evolving Landscape. Neurol Genet. 2025;11(6):e200326. Published 2025 Nov 25. doi:10.1212/NXG.0000000000200326
Show transcript:
Dr. Stacey Clardy:
Hi, this is Stacey Clardy from the Salt Lake City VA in the University of Utah. For a two-part podcast series this week, I've been speaking with Ayush Gupta, from the University of Nebraska Medical Center, and Kuntal Sen, from Children's National Hospital in Washington, DC about monogenic disorders that mimic neuroinflammatory disease. There are a lot of them, and they are no doubt sitting in our clinics waiting to be recognized.
Ayush, for the minute, once a neurologist starts suspecting one of these disorders, what's the most practical testing strategy to avoid both under and over-testing for these disorders?
Dr. Ayush Gupta:
I think the most practical strategy is to write down all the phenotypic symptoms that you think could be related, put that exact information into a genetic testing panel that will be suitable. Or, if possible, try to do a broader genetic testing such as whole genome sequencing, and make yourself equipped to be able to analyze the results that you get from the testing.
Dr. Stacey Clardy:
I hear you saying, at least when you're thinking about this, be a bit of a lumper. As we covered in the podcast, if we are going to pursue that genetic testing, it is absolutely critical that we share that list with the interpreting geneticist because that determines how they score variants and how they rate them as related or not.
Please take a listen to that two-part podcast series, where we get into all these details. I walked away with a great framework on how to do better in terms of picking these disorders out. Again, the paper that accompanies the two-part podcast series is in Neurology Genetics. It's a comprehensive review and called Monogenic Mimics of Neuroinflammatory Phenotypes in Children and Young Adults in Evolving Landscape.
Thank you, Ayush.
Dr. Ayush Gupta:
Thank you so much.