Autosomal dominant cerebellar ataxia type I in Morocco: presence of the SCA1 and SCA3/MJD mutations

Abstract

We searched for CAG repeat expansions at the SCA1 and SCA3/MJD loci in nine families, including 15 examined patients, with autosomal dominant cerebellar ataxia type I from Morocco. Expansion of the CAG repeat was found in one family at the SCA1 and two at the SCA3/MJD locus, demonstrating the existence of genetic heterogeneity among ADCA type I families in Morocco. Instability during transmission was observed at both loci as in other unstable mutations. The phenotypes of the SCA1 and SCA3/MJD patients were similar.