Intronic<i>FGF14</i>GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy

Abstract

GAA-<i>FGF14</i>-related disease is a common cause of cerebellar ataxia with polyneuropathy and/or BVP, and should be included in the differential diagnosis of <i>RFC1</i> CANVAS and disease spectrum.