Spinocerebellar ataxia type 27B (ATX-FGF14-GAA)

Spinocerebellar ataxia type 27B (SCA27B) is a newly identifi ed hereditary ataxia discovered in 2023, characterized by pathological GAA repeat expansions in the FGF14 gene. Current research indicates it as one of the most prevalent forms of adult-onset ataxia, particularly among previously undiagnosed cases. We describe a 64-year-old female patient with SCA27B exhibiting: recurrent dysarthria, downbeat nystagmus and unremarkable neuroimaging fi ndings. This case illustrates a comprehensive diagnostic approach for progressive cerebellar ataxia of unclear etiology (videooculography, Halmagyi video head impulse test, cerebellar MRspectroscopy and genetic testing). We discussed diffi culties of diff erential diagnosis of SCA27B with acquired (including gluten) ataxia.