SCA7 is caused by an unstable CAG repeat expansion in the coding region of the SCA7 gene conferring a toxic gain of function to the ataxin-7 (ATXN7) protein which accumulates aberrantly in neurons, a mechanism also involved in a family of eight other inherited neurodegenerative polyglutamine (PolyQ) diseases, including Huntington’s disease (HD), spinobulbar muscular atrophy (SBMA), dentatorubral pallidoluysian atrophy (DRPLA), spinocerebellar ataxia (SCA) types 1, 2, 3, 6 and 17 [4]. Here, ATXN7 is linked to autosomal dominant cerebellar ataxia.