Spinocerebellar Ataxia 17: A clinical Rubik’s cube

Abstract

Spinocerebellar ataxia 17 (SCA 17) has been recognized as one of the most heterogeneous forms of autosomal dominant cerebellar ataxia (ADCA), with a wide clinical spectrum at presentation. SCA17 presenting as Huntington disease like-4 (HDL-4) phenotype has been observed only sporadically or in solitary individuals within a family. We report the case of a young Indian male who presented with juvenile Parkinsonism (HDL like phenotype) features without family history subsequently diagnosed as SCA17.