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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Neurometabolic Disease Content
Tahseen Mozaffar: PROPEL Study Results Investigating the use of AT-GAA for the Treatment of Late-onset Pompe Disease
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 late onset Pompe disease and the unmet needs in its treatment? (0:15) What is AT-GAA […]
Antonio Federico, EAN 2018 – Effects of migration on the pathophysiology of neurological conditions
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. What has the increased migration of European people taught us about the pathophysiology of […]
Antonio Federico, EAN 2018 – Involvement of the EAN in rare neurological diseases
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 you tell us a little about the Task Force within the EAN that is […]
Günther Deuschl, EAN 2018 – Burden of neurological diseases across Europe (Part 2)
Günther Deuschl (EAN President; Professor of Neurology, Department of Neurology, University Hospital Schleswig-Holstein, Kiel Campus, Germany) kindly took the time to discuss with us the burden of neurological diseases in Europe, including disparities across our continent, and how the EAN aims to help. Part 2 of 2. Questions 1. What are the unmet needs of […]
Günther Deuschl, EAN 2018 – Burden of neurological diseases across Europe (Part 1)
Günther Deuschl (EAN President; Professor of Neurology, Department of Neurology, University Hospital Schleswig-Holstein, Kiel Campus, Germany) kindly took the time to discuss with us the burden of neurological diseases in Europe, including disparities across our continent, and how the EAN aims to help. Part 1 of 2. Questions 1. What do you know about the […]
Thapanee Somboon, AAN 2018 – Neurology and sleep-disordered breathing/sleep apnea
Thapanee Somboon (Cleveland Clinic, OH) talks us through the key findings of her two presentations, which focused on the prevalence of high risk obstructive sleep apnea and insomnia in neurological populations (abstract available here) and the performance of sleep apnea screening tools in former professional athletes (abstract available here). Questions 1. How prevalent are obstructive […]
New Antisense Therapy in Development for Pompe Disease
In this exclusive interview during WORLDSymposium 2015, Nicholas Clayton, MSc, staff scientist at Genzyme Corporation discusses the exciting new data he and his colleagues presented on antisense therapy that is in development to treat patients with Pompe disease.
Niemann-Pick Disease Type C
Dr. Marc Patterson a pediatric neurologist at Mayo Clinic discusses Niemann-Pick disease type C.