1421-Hallmarks of Polyglutamine Spinocerebellar Ataxias

Paper Talk · Aug 12, 2026 · 20m

The review article examines the pathogenesis of polyglutamine spinocerebellar ataxias (PolyQ SCAs), a group of six inherited neurodegenerative disorders caused by CAG repeat mutations. The authors establish a conceptual framework by categorizing the disease mechanisms into eleven molecular hallmarks divided into three distinct stages. Primary hallmarks involve direct consequences of the mutation, such as protein aggregation, aberrant molecular interactions, posttranslational modifications, and RNA-mediated toxicity. Secondary hallmarks describe resulting cellular dysfunctions, including…