Clinical Heterogeneity and Candidate Biomarkers in POLG-Related Mitochondrial Disease - Part 2
Release Date: 05/13/2026
Miv-cel CD19 CAR T-Cell Therapy Shows Efficacy and Safety in Stiff Person Syndrome
Neurology Minute
Dr. Shuvro Roy and Dr. Amanda Piquet discuss a brief overview of stiff person syndrome, as well as the trial and the trial results. Read more about this abstract on the . Show transcript: Dr. Shuvro Roy: Hi, this is Shuvro Roy from the University of Washington and welcome to today's Neurology Minute. I just wrapped a longer conversation with Amanda Piquet from the University of Colorado Anschutz School of Medicine. We were just talking about the recent Phase 2 trial evaluating Miv-cel Kyverna Therapeutics' anti-CD19 CAR T-cell therapy in patients with Stiff Person...
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Miv-cel CD19 CAR T-Cell Therapy Shows Efficacy and Safety in Stiff Person Syndrome
Neurology Minute
Dr. Shuvro Roy and Dr. Amanda Piquet discuss a brief overview of stiff person syndrome, as well as the trial and the trial results. Read more about this abstract on the . Show transcript: Dr. Shuvro Roy: Hi, this is Shuvro Roy from the University of Washington and welcome to today's Neurology Minute. I just wrapped a longer conversation with Amanda Piquet from the University of Colorado Anschutz School of Medicine. We were just talking about the recent Phase 2 trial evaluating Miv-cel Kyverna Therapeutics' anti-CD19 CAR T-cell therapy in patients with Stiff Person...
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Understanding Rett Syndrome - Part 4
Neurology Minute
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Neurology Minute
Dr. Stacey Clardy discusses methylenetetrahydrofolate reductase (MTHFR) in this lab minute. Show transcript: Dr. Stacey Clardy: Hi, this is Stacey Clardy from the Salt Lake City VA in the University of Utah. Let's do a lab minute today on MTHFR. This one just simply will not go away. This is one of those topics where a huge amount of patient anxiety is inversely proportional to the utility of a test. So MTHFR is methylenetetrahydrofolate reductase. It's the enzyme that helps generate five methyltetrahydrofolates supporting remethylation of homocysteine to methionine. That...
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June 2026 President Spotlight: Community at the AAN
Neurology Minute
In the June episode of the President's Spotlight, Dr. Jason Crowell and Dr. Natalia Rost discuss the sense of community present within the AAN. Stay informed by watching the video. Show transcript: Dr. Jason Crowell: This is Jason Crowell with today's Neurology Minute. Once again, this month for our presidential spotlight, we have Natalia Rost joining us. Natalia, thanks so much for your time today. Dr. Natalia Rost: Hi, Jason. Dr. Jason Crowell: So what is on your mind this month, Natalia? Dr. Natalia Rost: Well, if you remember, last month we talked about...
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New Resident Guide to Stroke Alerts - Part 2
Neurology Minute
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New Resident Guide to Stroke Alerts - Part 1
Neurology Minute
In part one of this series, Dr. Andy Southerland and Dr. Dan Ackerman discuss what stands out in the latest thrombolysis guidelines, how these decisions are applied in stroke center practice, and how to educate residents and fellows on incorporating new evidence into treatment choices. Show transcript: Dr. Andy Southerland: Hi. This is Andy Southerland from the University of Virginia, and for today's Neurology Minute, I'm speaking with my friend and colleague, Dan Ackerman, Chief of Neurology and Director of Stroke at St. Luke's University Health System. I've been speaking with Dan on the main...
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Understanding Rett Syndrome - Part 3
Neurology Minute
In the third episode of this series, Dr. Stacey Clardy discusses treatment options and ongoing management. Show transcript: Dr. Stacey Clardy: This is The Neurology Minute. I'm Stacey Clardy from the Salt Lake City VA at the University of Utah. This is the third episode today in our four-part series on Rett syndrome, and we're going to talk about treatment options and ongoing management. There is still no curative therapy for Rett syndrome and management remains largely supportive and multidisciplinary. But there is now an FDA-approved treatment, trofinetide, for adults and children two...
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Neurology Minute
Dr. Margarita Fedorova discusses the effectiveness of shunting for idiopathic normal pressure hydrocephalus. Show citation: Luciano MG, Williams MA, Hamilton MG, et al. A Randomized Trial of Shunting for Idiopathic Normal-Pressure Hydrocephalus. N Engl J Med. 2025;393(22):2198-2209. 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 a randomized trial that provides high quality evidence for treatment we've been using for decades,...
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Neurology Minute
Dr. Casandra MacLeod discusses central retinal artery occlusions, recent trials, and those anticipated in the future. Show citation: Préterre C, Gaultier A, Obadia M, et al. Intravenous alteplase versus oral aspirin for acute central retinal artery occlusion within 4·5 h of severe vision loss (THEIA): a multicentre, double-dummy, patient-blinded and assessor-blinded, randomised, controlled, phase 3 trial. Lancet Neurol. 2025;24(11):909-919. doi: Poli S, Grohmann C, Wenzel DA, et al. Early REperfusion therapy with intravenous alteplase for recovery of VISION in acute...
info_outlineIn the second part of this series, Dr. Katie Krulisky and Dr. Cristina Domínguez-González explore the most effective approach to evaluating suspected mitochondrial disease.
Show citation:
Bermejo-Guerrero L, Restrepo-Vera JL, Martin-Jimenez P, et al. Clinical Heterogeneity and Candidate Biomarkers in POLG-Related Mitochondrial Disease. Neurol Genet. 2026;12(2):e200365. Published 2026 Mar 10. doi:10.1212/NXG.0000000000200365
Show transcript:
Dr. Katie Krulisky:
This is The Neurology Minute. This is the second part of our series. I'm Katie Krulisky from the University of Utah and I'm here with Cristina Domínguez-González from the 12th of October University Hospital and its affiliated health research institute in Madrid, Spain. We've just recorded a full podcast on our paper, Clinical Heterogeneity and Candidate Biomarkers in POLG-related Mitochondrial Disease, which has been published in Neurology Genetics.
Cristina, for The Minute, what's the most practical way to work up suspected mitochondrial disease today?
Dr. Cristina Domínguez-González:
In practice, everything starts with the clinical picture. Recognizing the pattern, whether it's a combination of features or a more subtle isolated presentation, is what should first raise suspicion. From there, you decide the next step. Targeted genetic testing if the phenotype is well-defined, grow their sequencing if it is less clear or more complex.
Biomarkers can also be very helpful. GDF15, Growth Differentiation Factor 15, is markedly elevated in many mitochondrial diseases and can support the suspicion. In myopathies in particular, it is especially useful because of its high negative predictive value helping to rule out a mitochondrial cause when levels are not elevated.
And finally, muscle biopsy still has a role. It can provide important information in selected cases, particularly in adults or when genetic results are inconclusive, both for diagnosis and also to guide further studies.
Dr. Katie Krulisky:
Thank you. That's super helpful. And for more on mitochondrial diseases and POLG-related disorders, have a listen to the full neurology podcast.
Again, I'm Katie Krulisky from the University of Utah with Cristina Domínguez-González from the 12th of October University Hospital and its affiliated health research institute in Madrid, Spain.