STUB1 and cerebellar ataxia: We identified 3 ataxia index patients with either homozygous mutations (c.367C > G, p.Leu123Val and c.719 T > C, p.Met240Thr in two patients with consanguineous parents) or compound heterozygous mutations (c.235G > A; c.236C > A, p.Ala79Thr; p.Ala79Asp in one patient with non- consanguineous parents) in the STUB1 gene (transcript NM_005861).