Rare Diseases
An Introduction to Rare Diseases
Although the incidence of rare neurological diseases is by definition low, they have a considerable collective impact: according to recent estimates, nearly half of all rare diseases are neurological, and up to 90% of all paediatric rare diseases have a neurological component. The most common of these conditions fall into the following groups: cerebellar ataxias and hereditary spastic paraplegias; Huntington’s disease and other choreas; frontotemporal dementia; dystonia, paroxysmal disorders, and neurodegeneration with brain iron accumulation; leukoencephalopathies; neuromuscular diseases and atypical Parkinsonian syndromes. Advances in genomic technologies, including exome sequencing, have enabled rapid diagnosis of a number of rare neurological conditions. There have also been many advances in gene therapies, and this is an active are of clinical research.
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Prof. Hideo Yamanouchi discusses the lifelong impact of Dravet syndrome, the importance of adaptive functioning and genetic diagnosis, and how emerging targeted therapies could reshape treatment goals beyond seizure reduction. Dravet syndrome is increasingly understood as a lifelong genetic neurodevelopmental ...
From gene-targeted approaches in Dravet syndrome to positive phase 3 data in focal and generalized seizures, selected presentations at the 16th European Epilepsy Congress highlighted a rapidly evolving epilepsy treatment landscape. Beyond reducing seizure frequency, several studies also explored whether emerging ...
Highlights from the European Academy of Neurology (EAN) 2026 Congress included new phase 3 data in ocular myasthenia gravis, emerging migraine treatments, longer-term results in multiple sclerosis, and advances in deep brain stimulation for Parkinson’s disease. The 12th Congress of the ...
Meet the future leaders transforming neurology The touchNEUROLOGY Future Leaders 2026 programme recognizes outstanding early- and mid-career clinicians, researchers and scientists who are shaping the future of neurology. Nominated by peers across the global neurology community, these innovators are leading advances ...
Prof. Amanda Piquet discusses the KYSA-8 miv-cel trial in refractory stiff-person syndrome, including efficacy findings, safety outcomes and the future role of CD19 CAR T-cell therapy in autoimmune neurologic disease. At the American Academy of Neurology Annual Meeting 2026, Prof. Amanda ...
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, ...
ESOC 2026 highlights: Blood pressure management, neuroprotection and widening inequalities shape stroke discussions in Maastricht #VoiceOfStroke [caption id="attachment_101685" align="alignright" width="300"] © European Stroke Organisation #VoiceOfStroke[/caption] At the 12th European Stroke Organisation Conference 2026, late-breaking clinical trial data and population-level analyses ...
New findings highlight the importance of functional antiviral immunity, beyond lymphocyte expansion alone, in progressive multifocal leukoencephalopathy. At American Academy of Neurology 2026, Dr Yair Mina (Staff Clinician, Experimental Immunotherapeutics Unit, National Institute of Neurological Disorders and Stroke (NINDS), Bethesda, MD, ...
Prof. Peter Hedera discusses the potential of tiomolibdate choline to improve neurologic outcomes and reduce deterioration risk in Wilson disease. Neurologic worsening remains one of the greatest treatment challenges in Wilson disease, where delayed diagnosis and paradoxical deterioration during therapy ...
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 ...
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