Frequency and phenotype of GAA-FGF14 disease in bilateral vestibulopathy syndromes: insights from repeat expansion carriers, including a case of co-occurrence with RFC1-related CANVAS.

Abstract excerpt

OBJECTIVES: Intronic FGF14 GAA repeat expansions cause spinocerebellar ataxia 27B (SCA27B) / GAA-FGF14 disease. Bilateral vestibulopathy (BVP) has been reported as a recurrent feature of this disease. Here, we aimed to determine whether GAA-FGF14 expansions represent a common cause of primary BVP syndromes. METHODS: FGF14 genotyping, and in-depth neurological, vestibular and disease evolution phenotyping of 116...

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