Pathogenic mutation of PITRM1 is associated with autosomal recessive spinocerebellar ataxia-30 (SCAR30, MIM #619405), largely characterised by progressive spinocerebellar ataxia, cerebellar atrophy, early-onset developmental delay and psychosis [25,26]. This evidence concerns the gene PITRM1 and spinocerebellar ataxia, autosomal recessive 30.