Consensus Recommendations for Diagnosis and Management of Vanishing White Matter - Part 2

In part two of this series, Dr. Justin Abbatemarco, Dr. Marjo S. van der Knaap, and Romy J. van Voorst discuss the patient management card and how patients should use it.  Show citation: and Clinical Management of Vanishing White Matter. Neurology. 2025;105(11):e214320. doi:10.1212/WNL.0000000000214320  Show transcript:  Dr. Justin Abbatemarco: Hello and welcome back. This is Justin Abbatemarco here with Romy J. van Voorst and Dr. Marjo S. van der Knaap. After discussing her article, Published Neurology Consensus Base Expert Recommendation for Diagnosis and Clinical Management of Vanishing White Matter Disease. Romy, I really want to talk with you about the patient management card. What inspired you to create that in this publication, and how should patients use that? Romy J. van Voorst:  So what the main motivation was of the study was actually a previous study that we did before. And in this study, we looked at the impact of any short matter on unaffected family members. And we found out that actually many family members encountered clinicians that were unfamiliar with its disease or disease-specific management. And during interviews, we saw that there was an urgent need for moral harmonization of care and also symptom management because families felt like they are left alone with just their child and no guidance on how to go further. And we wrote these recommendations to help families better understand the diagnostic and care process so they can also participate in informed decision-making. So they can understand what kind of preventive measures they can take and whether or not this interferes, for example, with quality of life goals. So there are a lot of different recommendations families can take home with. Dr. Justin Abbatemarco:  Marjo, anything else you want to add there? Dr. Marjo S. van der Knaap:  Yeah, I think the management card also helps because they have a physical card when they go to consultation or to emergency room that they can hand over. It's an official publication. It's developed by the Finishing WebMetter Expert Consortium in combination with other experts in combination with patient advocates and representatives. And so it's really a sort of a guidance that cannot be denied. So it has some authority to it. Dr. Justin Abbatemarco:  But I think it's a theme that applies to many neurological diseases, and addressing that. You do it really practically. And I agree, giving something more tangible for patients to present, especially to non-neurologists to help them give some guidance. It's an idea that we need to think about in clinic all the time on how we're interacting and supporting caregivers and when they're interfacing with the medical community at large. So I love what you guys have done here and to make us think about this more broadly. Thanks again for all your time and your work on this topic. Dr. Marjo S. van der Knaap:  Thank you for having us. 

Dr. Andy Southerland and Dr. Shyam Prabhakaran explain the significance of these guidelines and why they are important.  Show citation:  Prabhakaran S, Gonzalez NR, Zachrison KS, et al. 2026 Guideline for the Early Management of Patients With Acute Ischemic Stroke: A Guideline From the American Heart Association/American Stroke Association. Stroke. Published online January 26, 2026. doi:10.1161/STR.0000000000000513  Show transcript:  Dr. Andy Southerland: Hello everyone. This is Andy Southerland from the University of Virginia. And for this week's Neurology Minute, I've just been speaking with my colleague, Shyam Prabhakaran, from the University of Chicago, who was the Chair of the 2026 AHA/ASA guidelines for the early management of patients with Acute Ischemic stroke published in the January 2026 online version of the journal, Stroke. So Shyam, in our brief Neurology Minute today, why don't you just give a plea about why these guidelines are so important? Dr. Shyam Prabhakaran: Thanks, Andy. These guidelines are the first guidelines since 2019, so a lot has happened. So when you look at these guidelines, you'll see a lot of new recommendations. In fact, I think the majority have been revised in some way or another. And I'd point to the actual guideline document, which is in the journal Stroke online January '26, and the print version will be for the March edition of the journal Stroke. In addition to that, I'd say because you want to have interpretability and ease of practice, there are a bunch of derivatives on the AHA website that are very useful. They include case studies, they include figures and workflows that could be really useful for you to have these conversations. And there's even a slide deck that was prepared by our AHA ambassadors. There are these young whippersnappers that did a great job putting together a slide deck for anyone to use. They can use that to have conversations locally or anywhere they want. I encourage people, read the guidelines, but then also use the derivative products that people spent a lot of time on developing. Dr. Andy Southerland: Thank you, Shyam. I think that's a great message from the Chair of the writing group, that when you look at these guidelines, they can seem daunting. But the way you all have provided all these additional resources and analogs for people to interpret it and apply it in their own stroke centers and practice, I think folks definitely will be running out to do that, just to seek out the full guideline, and let's apply all this great new evidence to better care for our patients. So Shyam, thanks again for joining us for this week's Neurology Minute. 

In part one of this two-part series, Dr. Justin Abbatemarco, Dr. Marjo S. van der Knaap, and Romy J. van Voorst discuss vanishing white matter disease, focusing on the clinical and MRI findings that would prompt the consideration of genetic testing.  Show citation: van Voorst RJ, Schoenmakers DH, Bonkowsky JL, et al. Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter. Neurology. 2025;105(11):e214320. doi:10.1212/WNL.0000000000214320  Show transcript:  Justin Abbatemarco: Hello and welcome. This is Justin Abbatemarco here with Romy J. van Voorst and Marjo S. van der Knaap. After discussing their article published in Neurology, Consensus-Based Expert Recommendation for Diagnosis and Clinical Management of Vanishing White Matter. They both work for Amsterdam University Medical Center in the Netherlands. And we're going to have a two-part episode dissecting maybe two elements of this paper. Marjo, maybe we could start here and just talking about what vanishing white matter disease is and what in the clinic and MRI findings would make us go towards a genetic testing. Dr. Marjo S. van der Knaap:  There are two things about vanishing white matter that matter most to families, and one is the stress sensitivity. So any type of physical stress, like fever, viral infection, anything may cause a rapid decline and you never know when it comes. And that brings me to the second item that's very difficult and painful for families. And that's the unpredictability. You never know when a disease is going to hit and then your child is going to go down. So you really need the support of neurologists who know about this disease and help you go through this situation. Dr. Justin Abbatemarco: Right. And this paper serves as a great resource for folks that if they have a patient in clinic like this, medications to avoid, how to manage those stress responses. And so it's a really helpful publication to have there. And then I think another message we talked a lot about on the podcast was the importance of genetic testing when patients aren't fitting a typical bucket and this specific disease has unique characteristics. I think the cystic appearance of the MRI, which you do a great job highlighting, would really lead us down that road. So I think it's all really helpful and it gives us some ways to start in clinic with patients and our caregivers. So thank you. Come back and join us for the second part of The Neurology Minute episode where we're going to talk about the patient management. 

In the final episode of this three-part series, Dr. Stacey Clardy and Max Goldman talk about telehealth.  Stay updated with everything related to Neurology on the Hill. Show transcript:  Dr. Stacey Clardy: Hi, this is Stacey Clardy, and today we're wrapping up our three-part series covering the Top Advocacy Issues for Neurology on the Hill 2026 in Washington, DC. This is the event where many neurologists fly in from all over the country to meet with our elected representatives to discuss the issues of the most importance to our patients, and to allow us to continue to take good quality care of our neurology patients. We have again back with us, Max Goldman. He's the Director of Congressional Affairs from the AAN Legislative Team. Max, we covered Medicare, we covered neuroscience research in the Brain Initiative. The third and final issue is telehealth. What do we need to accomplish on telehealth in Washington, DC this year? Max Goldman: The telehealth flexibilities provided with the COVID-19 public health emergency have been so important to providing neurological care to patients across the country. However, what we saw during the government shutdown at the end of 2025 was a lapse in those flexibilities, which caused a huge amount of panic, of uncertainty for both our members, the AAN, who are providing care, and patients who relied on care through telehealth from their neurologist. That can't happen again. These flexibilities have been extended short-term basis for one year, two year, a couple of months, and what we need now is a permanent extension of these flexibilities so they can't lapse again, and our patients know they can access the care they need. What we're doing at Neurology on the Hill is going to ask our members of Congress to co-sponsor the Connect for Health Act. This bill would permanently extend telehealth flexibilities, including a full extension of protection of audio-only visits, which is important for folks in areas without great broadband or access to internet. This would just be a really good bill. It's got a lot of momentum this year, and we're hopeful that this will finally make telehealth a permanent part of neurological care going forward. Dr. Stacey Clardy: So important. I certainly know out here in Utah where we cover several rural states, this has really been a lifeline to our patients. To learn more about this issue and the other issues being discussed at Neurology on the Hill, you can go to AAN.com and click on advocacy. Thanks for listening, and thank you Max, for representing us in DC.   

In the second installment of this three-part series, Dr. Stacey Clardy and Max Goldman discuss neuroscience research and the BRAIN Initiative.  Stay updated with everything related to Neurology on the Hill. Show transcript:  Dr. Stacey Clardy:  Hi, this is Stacey Clardy. We are going to continue with our three-part series today about the top advocacy issues covered at Neurology on the Hill 2026 in Washington, DC. Again, as many of you know, this is the AAN's annual advocacy fly-in event. Neurologists come from all over the US to Washington and meet with elected representatives to discuss issues of high importance to allow us to continue providing high-quality care to patients in the US with neurological diseases. In the first minute, we discuss the topic of Medicare, and I have with me again, Max Goldman, director of Congressional Affairs from the AAN legislative team, to talk to us about issue number two, which is neuroscience research, and specifically the BRAIN Initiative. Max, what are we going to discuss about neuroscience research? What do we need to happen in order to continue doing high-quality research? Max Goldman: So, this one is so important, and there's this wonderful program at the NIH called The BRAIN Initiative. This was founded in 2013, really reinforced in 2016 with the 21st Century Cures Act. It's just funding for basic research into how the brain works, right? And the idea behind this is that if we can understand how the brain works, we can find the next generation of treatment or cures for neurological conditions, psychiatric conditions, and issues that go through the brain. This year, we are in a precarious position. Mandatory funding for this program is expiring, and so we're going to lose a lot of money and a lot of opportunities to provide more grants to people to figure out how the brain works. So, what we are doing on Neurology on the Hill is we're asking members of Congress to support $468 million in funding in fiscal year 2027 for the BRAIN Initiative, so we can keep up the good work and keep working towards the next generation of treatments and cures for neurological conditions. Dr. Stacey Clardy: So important. Thank you, Max. To learn more about this issue and the other two issues, you can go to AAN.com. Click on advocacy. And stick with us for the third Neurology Minute, where we will get to the final issue to be discussed, telehealth. 

In the first part of this three-part series, Dr. Stacey Clardy and Max Goldman discuss the state of Medicare in 2026. Stay updated with everything related to Neurology on the Hill. Show transcript: Dr. Stacey Clardy: Hi, this is Stacey Clardy. Today, we're going to start the first of a three-part series about the top advocacy issues at Neurology on the Hill 2026 in Washington, DC. As many of you know, this is the AAN's Annual Advocacy fly-in event in the US, where neurologists come to Washington and meet with our elected representatives to discuss the issues that are important for all of us in the US to continue providing high-quality care to patients with neurological diseases. Every year in preparation for this event, the AAN selects a few issues to focus on with our lawmakers, and we're going to cover those in a three-minute series. We have Max Goldman, the Director of Congressional Affairs from the AAN Legislative Team, to give us the details. Max, the first topic that will be covered at Neurology on the Hill this year is Medicare. What do we need to know about the state of Medicare in 2026? Max Goldman: Thank you so much for having me. As many of you know, the way the Medicare physician fee schedule works and the way that you all are reimbursed for the care you provide patients across the country has been broken for several years. We have this cycle of indiscriminate cuts that keeps happening, where the CMS will present a fee schedule, it'll have a cut for you all, then we have to go to Congress to beg for them to fix the cut. This year, we are talking to Congress about a structural reform that they can make, so we don't have to do that anymore, and the reimbursement that you all receive is commensurate with cost of actually providing care. This year we're going to ask for two things. We're going to ask for them to adjust the triggers to the budget neutrality requirement in the fee schedule, meaning that CMS can make some more changes to the fee schedule without requiring cuts to everyone's reimbursement, and we're going to request that they provide a permanent inflationary adjustment to physician reimbursement so that the reimbursement you get is in track with the cost of providing care in any given year. Dr. Stacey Clardy: Thanks for that summary. Here's hoping to get some traction on that. To learn more about this issue, you can go to aan.com and click on advocacy. And in the upcoming two minutes, we are going to discuss the other issues being brought to Congress at Neurology on the Hill. Thank you for listening to today's Neurology Minute. 

Dr. Alex Menze and Dr. Divyanshu Dubey discuss the clinical insights into autoimmune nodopathies, particularly focusing on CASPR1 and CASPR1/CNTN1-complex-IgG.  Show citation:  Paramasivan NK, Basal E, LaFrance-Corey RG, et al. Clinical Insights Into CASPR1 and CASPR1/Contactin-1 Complex Autoimmune Nodopathies. Neurology. 2026;106(5):e214403. doi:10.1212/WNL.0000000000214403 Show transcript:  Dr. Alexander Menze: Hi, this is Alexander Menze. I just finished interviewing Divyanshu Dubey for the Neurology podcast. For today's Neurology Minute, I'm hoping you can tell us the main points of your paper. Dr. Divyanshu Dubey: Our paper talks about a rare form of autoimmune neuropathy associated with antibodies, CASPR1, as well as CASPR1/Contactin-1 complex IgG. These patients present with similar to CIDP, IDP, but tend to have more rapid progression, often a lot of sensory features preceding motor deficits including sensory ataxia in the contact and CASPR complex cases and presence of neuropathic pain in some of the CASPR1 cases. These patients, similar to other neuropathies are refractory to IVIg, but respond relatively well to rituximab.  Dr. Alexander Menze: Thank you. Be sure to download this week's podcast to hear our full interview.  

Dr. Halley Alexander and Dr. Alissa M. D'Gama discuss genetic testing for infantile epilepsies.  Show citation:  Nguyen JNH, Lachgar-Ruiz M, Higginbotham EJ, et al. Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy. Neurology. 2026;106(6):e214645. doi:10.1212/WNL.0000000000214645  Show transcript:  Dr. Halley Alexander:  Hi, this is Halley Alexander with today's Neurology Minute, and I'm here with Dr. Alissa D'Gama from Boston Children's Hospital and Harvard Medical School, and we just finished recording a full-length podcast about some exciting new work in genetic testing for infantile onset epilepsies. Alissa, can you tell us what you found briefly and why it's important for neurology care? Dr. Alissa D'Gama:  Infantile epilepsies are relatively common, and they're associated with substantial burden of disease, and we know that identifying underlying genetic causes can impact clinical care. It's important for emerging precision therapies. But even after genome sequencing, which is the most comprehensive clinical genetic testing currently available, most infants remain genetically unsolved. And so what we did was take that genome sequencing data and reanalyze it for a cohort of infants who had unexplained non-acquired epilepsy and non-diagnostic genome sequencing, and in about 5% of cases, our reanalysis was able to identify a genetic diagnosis, and all of these diagnoses had impact on clinical care for their infants and their families. In some cases, we could incorporate new information, either new clinical information about the patient or new scientific methods or information about disease associations, and in other cases, we were able to incorporate new analysis methods to identify variants. And so our findings suggest that implementing reanalysis for infants or any individual with epilepsy within a year or two of non-diagnostic testing may be useful. Dr. Halley Alexander:  Thank you so much, and you can find a lot more details by listening to the full-length podcast, which is available now on the Neurology podcast, and you can find the full article in the March 10th issue of Neurology or online at neurology.org. As always, thanks for tuning in for today's Neurology Minute. 

In part three of this series, Dr. Jeff Ratliff discusses how access to information is not the same as clinical confidence. Show transcript:  Dr. Jeff Ratliff:  Hi, this is Jeff Ratliff from Thomas Jefferson University, and this is your Neurology Minute. I'm back again with a Neurology Minute episode to complement the podcast discussion I had with Roy Strowd, Justin Abbatemarco, and Tesha Monteith on the topic of technology-driven shifts in neurology education. In the episode, we touched on podcasting, AI-based learning, and social media on neurology education as a panel discussion. While there is still tremendous utility and promise and excitement around these tools, I think it's still helpful for us all to remember that access to information is not the same as clinical confidence. With tools like podcasts, learners can hear expert discussions on their commute or review topics in new interactive formats. With AI tools, learners can simulate talking to patients with a multitude of neurologic conditions. These digital tools can provide answers at hours, and our learners fingertips much more readily than even recent years. But as we watch the explosion of these tools impact, we must keep in mind the value of bedside clinical teaching. As teachers, as educators, there's still a great impact we can have by watching a resident examine a patient with ataxia, or coaching them through a difficult conversation with a patient. We can still help them teach the skill of reasoning through their clinical encounters in real time so that they can remember to ask that key history question, or to add in that critical exam maneuver. So, as impressive and impactful the latest and greatest teaching tool may be, I encourage you all not to shy away from going back to the bedside with the student, the resident, or fellow working with you today. Thanks for listening to the Neurology Minute. We'll see you next time.

In part two of this series, Dr. Jeff Ratliff discusses the expanding role of AI and digital tools in neurology education, emphasizing the importance of verifying information and developing source literacy.  Show transcript:  Dr. Jeff Ratliff: Hi, this is Jeff Ratliff from Thomas Jefferson University, and this is your Neurology Minute. I recently recorded a podcast episode with Roy Strowd, Justin Abbatemarco, and Tesha Monteith, where we discussed the growing impact of technology in neurology education. In this episode, we touched on podcasting, AI-based learning and social media in neurology education, all as a panel discussion. As an accompaniment to that conversation, we're releasing a series of Neurology Minute episodes, exploring those tools. Today I want to focus an important caution, verification. With increasing use of digital tools, AI or otherwise. The need for caution and verification of sources is even more important. Large language models and other AI tools are very frequently used by trainees at all levels. To summarize topics, generate explanations, and even draft a differential diagnosis. But as you all know, the outputs of these tools can be efficient and really impressive, but we need to keep in mind that potential issues with reliability. While less and less common, these tools may hallucinate producing information that sounds authoritative and sounds correct, but it's actually outdated or maybe even unsupported by evidence. So for those of us teaching at the bedside or in clinic, this means we have a responsibility to help our learners develop literacy towards AI and other digital tools. We have to be critics of our sources. As neurologists, we can role model asking questions like, where did this information come from and how do we verify it, and did you read the study that they cited? We encourage trainees to trace these claims back to the primary literature or to pull up guidelines or other trusted review sources just as we do in our own practice. I don't want to pour water on the AI enthusiasm. The truth is still that AI education tools can be a powerful adjunct for learning, but we should treat it like an assistant, not a supervisor. It's useful, it's fast, but it's still in need of our own supervision. Please tune into our podcast discussion to hear more about the rapidly changing landscape of neurology education. Meanwhile, thanks for listening to the Neurology Minute.