Neurometabolic Disease
An Introduction to Neurometabolic Disease
Advances in next-generation sequencing and next-generation metabolic screening have greatly improved diagnosis and increased our understanding of neurometabolic diseases. Novel neuroradiology techniques, such as diffusion-weighted imaging and proton MR spectroscopy, are also increasing our understanding of the disease mechanisms. Gene therapy is starting to fulfil its potential in the treatment of some neurometabolic disorders.
Browse video highlights and short articles from the conference hub, providing insights into the latest updates from major conferences and peer-reviewed articles from the journal portfolio. This is complimented by a range of educational activities from our expert faculty, with patient outcomes at the forefront.
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Leading experts share their perspectives on the most important therapeutic and treatment updates at AAN 2026 and discuss how these findings may shape the future of neurologic care At American Academy of Neurology (AAN) Annual Meeting, Chicago, IL, USA, April 18–22, 2026, major ...
Emerging data from AAN 2026 across neuroimmunology, epilepsy, neuromuscular disease, movement disorders and neuroinfectious disease highlighted the continued evolution of neurology toward more precise, personalized and mechanism-driven care. The American Academy of Neurology (AAN) Annual Meeting, Chicago, IL, USA, from April 18–22, 2026, ...
The late-breaking science sessions at AAN Annual Meeting 2026, Chicago, IL, USA brought together a wide range of pivotal and practice-shaping data spanning rare disease, neuroimmunology, headache, epilepsy, neurodegeneration and neuromuscular medicine. Several presentations reported positive phase III findings, while others ...
In our inaugural touchNEUROLOGY Future Leaders 2025 campaign, we celebrate the next generation of neurologists, rising stars shaping the future of clinical practice, research, and education across neurological specialties.
In this episode of Visionary Voices, we welcome Associate Professor Grace Vincent from CQUniversity’s Appleton Institute. A leading expert on sleep and shift work, Grace explores how disrupted sleep affects physician health in both the short and long term, as well as its impact on safety and performance. We also discuss what this means for patient outcomes and share practical strategies to manage sleep loss.
As touchNEUROLOGY approaches 20 years of providing education for busy neurologists, we are looking to the future—and it certainly looks bright!
Physician burnout is at a critical point. In this episode, Nicky speaks with Dr Alfred Atanda about why so many physicians are burning out and what can be done to change the trend. From personal experience to system-wide solutions, Dr Atanda shares valuable insights on improving physician well-being and building a more effective healthcare culture.
What if your medical degree could launch more than a clinical career? In this candid and compelling read, Dr Jon Edelson shares his lessons for early-career clinicians ready to think beyond the bedside and explore the business of medicine.
In this episode, we explore the future of continuing medical education (CME) with the team behind touchIME. Hannah Fisher and Matthew Goodwin share insights into global and US trends, the importance of patient inclusivity and how educational outcomes are evolving to better measure the direct impact of learning on clinical practice and patient care.
In this episode, we’re joined by Bradley Love, Professor of Cognitive and Decision Sciences at UCL, ELLIS fellow, and creator of BrainGPT. We discuss how this large language model is poised to assist researchers in advancing their work.
touchNEUROLOGY caught up with Tahseen Mozaffar (University California, Irvine, CA, USA) to discuss the results from the PROPEL study (NCT03729362) investigating the use of AT-GAA for the treatment of late-onset Pompe disease. Questions: Could you tell us a little about ...
Antonio Federico (EAN Scientific Committee Chair; Professor, Clinical Neurology and Neurometabolic Diseases, University of Siena, Italy) describes the impact increased migration has had on the pathophysiology of neurological conditions and the need to increase awareness of this amongst neurologists. Questions 1. ...
Antonio Federico (EAN Scientific Committee Chair; Professor, Clinical Neurology and Neurometabolic Diseases, University of Siena, Italy) discusses the unique challenges that rare neurological diseases bring and how the EAN have a Task Force focused on this important area. Questions 1. Could ...
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