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NEUROLOGY 1996;46:208-213
© 1996 American Academy of Neurology

Mutations in American families with spinocerebellar ataxia (SCA) type 3

SCA3 is allelic to Machado-Joseph disease

J. J. Higgins, L. E. Nee, O. Vasconcelos, S. E. Ide, C. Lavedan, L. G. Goldfarb and M. H. Polymeropoulos

From the Clinical Neurogenetics Unit (Drs. Higgins, Nee, Vasconcelos, and Goldfarb), Medical Neurology Branch, National Institute of Neurological Disorders and Stroke, and the Laboratory of Genetic Disease Research (Drs. Ide, Lavedan, and Polymeropoulos), National Center for Human Genome Research, National Institutes of Health, Bethesda, MD.
Received March 1, 1995. Accepted in final form April 19, 1995.
Address correspondence and reprint requests to Dr Higgins, Clinical Neurogenetics Unit, National Institute of Neurological Disorders and Stroke, Room 5N234, Bethesda, MD 20892-1430.

Article abstract-We identified an expansion of the CAG trinucleotide repeat in the coding region of the Machado-Joseph disease gene in 7 of 24 American families diagnosed with autosomal dominant ataxia. All affected individuals were heterozygous for an expanded allele that ranged from 67 to more than 200 CAG repeats, whereas the normal allele had 14 to 33 repeats. In contrast to the Azorean-Portuguese origins of Machado-Joseph disease, the two largest American families were of German and Dutch-African descent. Clinical, pathologic, and genetic evaluations suggest that American families with spinocerebellar ataxia type 3 differ from those with Machado-Joseph disease by their ethnic origins, predominant spinopontine atrophy, lack of dystonic features, and larger CAG repeat expansion.

NEUROLOGY 1996;46: 208-213




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