MACF1 and autosomal dominant cerebellar ataxia: Given these results, we decided to analyze the segregation of the variants in MACF1 and GLI2. The mother (SCA-3) transmitted the g.39914279 C > G (p. T4642S) mutation in MACF1 to her three affected sons (SCZ-7, SCZ-8, and SCA-9), but not to her healthy twin daughters (subjects 10 and 11) (Figure 1C).