Neuromyelitis optica spectrum disorder in a patient with spinocerebellar ataxia type 6

ABSTRACT

@#Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant, late-onset, slowly progressive cerebellar ataxia due to a pathological CAG repeat expansion in CACNA1A. Inflammation may be involved in the pathogenesis and progression of the trinucleotide repeat expansion disorder. We report a rare case of a 59-year-old woman with SCA6 who developed neuromyelitis optica spectrum disorder (NMOSD). In our case, this combination is coincidental but suggests that an inflammatory response to an unstable CAG repeat may contribute to NMOSD pathogenesis