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

Abstract

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… (More)

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Cite this paper

@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 N. Abbas and Olivier Didierjean and H{\'e}rve Chneiweiss and Amina Benomar and Oliver Lyon-Caen and J. Julien and Mariana Serdaru and Clotilde Penet and Yves Agid and Abigail Brice}, journal={Annals of neurology}, year={1996}, volume={39 4}, pages={490-9} }