Partial gene deletions (usually encompassing the 5’ region) of ITPR1 are known to cause spinocerebellar ataxia type 15 (SCA15) (van de Leemput et al., 2007) and more recently two missense mutations, N602D and V1553M, were reported in two families with autosomal dominant non-progressive cerebellar ataxia (Huang et al., 2012). This evidence concerns the gene ITPR1 and spinocerebellar ataxia type 15/16.