Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features.

@article{Drr1996SpinocerebellarA3,
  title={Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features.},
  author={Alexandra D{\"u}rr and Giovanni Stevanin and G{\'e}raldine Cancel and Charles Duyckaerts and Nacer Eddine Abbas and Olivier Didierjean and H{\'e}rve Chneiweiss and Ali Benomar and Olivier Lyon-Caen and Jean-Pierre Julien and Michel Serdaru and Clotilde Penet and Yves Agid and Alexis Brice},
  journal={Annals of neurology},
  year={1996},
  volume={39 4},
  pages={490-9}
}
Patients with spinocerebellar ataxia 3 (SCA3) and Machado-Joseph disease (MJD) carry an expanded CAG repeat in the MJD1 gene. One hundred twenty families of different geographic origin with autosomal dominant cerebellar ataxia (ADCA) type I were tested. Thirty-four families (126 patients) carried an expanded CAG repeat. The expanded and the normal allele did not overlap and the repeat was unstable during transmission, with variation in the size of the CAG length ranging from -8 to +5 and a mean… CONTINUE READING
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