Three heterozygous dominant mutations in SPTBN2 have been reported to cause SCA5: in the US (Lincoln) family a 13 amino acid in-frame deletion (E532_M544del) in the third spectrin repeat, in the French family a small complex in-frame deletion-insertion (L629_R634delinsW), also in the third spectrin repeat, and in the German family a missense mutation (L253P), in the N terminal domain. Here, SPTBN2 is linked to spinocerebellar ataxia type 5.