While our subsequent functional analysis of the SNP in an MJD cell model did not demonstrate any repercussions on soluble ataxin-3 levels or aggregated forms of the polyQ-expanded protein upon parkin V380L co-expression, we could detect a reduced binding of ataxin-3 to the parkin variant. The gene discussed is PRKN; the disease is Spinocerebellar ataxia type 3.