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Autosomal dominant cerebellar ataxia type I in Morocco: presence of the SCA1 and SCA3/MJD mutations
Authors:A Benomar  F Meggouh  O Didierjean  N Kissani  A Dürr  A Sefiani  T Chkili  Y Agid  M Yahyaoui  A Brice
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.
Keywords:Autosomal dominant cerebellar ataxia type I  Spinocerebellar ataxia 1  Spinocerebellar ataxia 3  Machado  Joseph disease  Genetic heterogeneity
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