Sharvani Gowtham

Spinocerebellar ataxia 27B (FGF14 repeat expansion): Clinical spectrum, diagnostic pitfalls, and implications for late-onset ataxia

Spinocerebellar ataxia 27B (SCA27B; OMIM 620174) is an autosomal dominant late-onset cerebellar ataxia (LOCA) caused by intronic GAA repeat expansions in FGF14 , first described in 2023. Since its discovery, SCA27B has emerged as a major genetic cause of previously unexplained LOCA across multiple populations. We...