This report suggests a possible extension of the clinical spectrum of PNPLA6 associated diseases to pure cerebellar ataxia and argues for PNPLA6-testing to be considered in cases of early-onset cerebellar ataxia despite the absence of chorioretinal dystrophy or hypogonadotropic hypogonadism that are regularly associated with mutations in this gene [5, 6, 17]. This evidence concerns the gene PNPLA6 and aceruloplasminemia.