ITPR1 and autosomal dominant cerebellar ataxia: Notably, all the mutations described above are autosomal dominant variants; however, a missense mutation in the ITPR1 gene was similarly associated with autosomal recessive SCA: In a family with congenital SCA history, the homozygous missense mutation L1787P was identified in all affected individuals, while the heterozygous carriers were asymptomatic [43].