Spinocerebellar ataxia type 2 presenting with chorea: Korean cases

ABSTRACT

@#Spinocerebellar ataxia type 2 (SCA2) is an expanded CAG repeat disorder in ATXN2 gene with a wide range of clinical phenotypes. Chorea has been reported as one of extrapyramidal symptoms of SCA2 patients, but has not been reported in Korea. Here, we report two Korean cases of SCA2 presenting with chorea one showed generalized chorea in young onset SCA2 with 57 CAG repeats, and the other showed mild chorea in the hands in adult onset SCA2 with 40 CAG repeats. This report documents the phenotype of chorea in Korean patients with SCA2