Article

An R83W mutation in Rab3A causes autosomal-dominant cerebellar ataxia

2025-07-17

Abstract excerpt

Spinocerebellar ataxias (SCAs) are a group of progressive neurodegenerative disorders caused by pathogenic variants in more than 40 genes with diverse cellular functions. In this study, we identified the c.247C>T p.(Arg83Trp) variant in RAB3A , encoding a small GTPase involved in membrane-associated regulated exocytosis, in two families with cerebellar ataxia. Affected individuals presented with adult-onset, gradu...

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Literature Corpus work: b82c8af8-1e85-5814-a2e9-f1448a6b44fc
DOI: 10.1101/2025.07.16.25330541

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