In addition to missense mutations of the ITPR1 gene, a splicing variant was also associated with SCA29: The c.1207-2A-T transition was identified in exon 14 of ITPR1 in four SCA29 patients and was not found in unaffected members of the same family [42]. The gene discussed is ITPR1; the disease is spinocerebellar ataxia type 29.