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
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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 ... ...
