Spinocerebellar ataxia type 27B (ATX-FGF14-GAA)
Year: 2025
Type: article
Study design: Case Report
Abstract: 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.
Source: Russian neurological Journal
Language: English
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W4414854687