RFC1 and neuropathy: Recently, cerebellar ataxia with neuropathy and vestibular areflexia syndrome linked to biallelic AAGGG expansions in RFC1 has attracted attention as a differential diagnosis of MSA30 and of SCA27B28; however, no RFC1 expansions have been identified in pathologically confirmed MSA cases.31 Despite phenotypic overlap between MSA, RFC1-related disease and FGF14 GAA-related disease, certain features can help to differentiate these disorders.