Huntington’s Disease (HD) is a rare, incurable, inherited and ultimately fatal neurodegenerative disorder characterised by chorea, ataxia, dysphagia, cognitive and behavioural changes. Current therapies offer only symptomatic relief, and many are associated with significant side effects, though pridopidine, a sigma-1-receptor (S1R) agonist has shown potential for both symptomatic treatment and disease modifying effects in HD. Advances in our understanding of the pathogenesis of HD have highlighted the importance of DNA repair genes, and novel approaches, such as the antisense therapy tominersen and the oral agent branaplam, are targeting the mutant huntingtin (mHTT) protein and the HTT gene. However, no disease-modifying therapy is yet approved for HD.
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It is my pleasure to introduce the 2025 of touchREVIEWS in Neurology, which brings together an exceptional collection of reviews, original research and congress highlights that reflect the continued evolution of neurological science and clinical innovation. This issue opens with Jelle ...
Huntington’s disease (HD) is a fatal, autosomal-dominant, neurodegenerative disorder caused by a cytosine–adenine–guanine (CAG) trinucleotide repeat expansion in the huntingtin (HTT) gene, located on chromosome 4p16.3. When this repeat exceeds 36 units, it leads to the synthesis of ...
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