Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease
| Autor: | J. J. Higgins, Susan E. Ide, O. Vasconcelos, Mihael H. Polymeropoulos, L. G. Goldfarb, C. Lavedan, L. E. Nee |
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| Rok vydání: | 1996 |
| Předmět: |
Adult
congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Ataxia Genetic Linkage DNA Mutational Analysis Molecular Sequence Data Degenerative disease Genetic linkage medicine Humans Allele Aged Repetitive Sequences Nucleic Acid Spinocerebellar Degenerations Genetics Base Sequence business.industry Machado-Joseph Disease Middle Aged medicine.disease Pedigree Spinocerebellar ataxia Female Neurology (clinical) medicine.symptom Trinucleotide repeat expansion business Machado–Joseph disease |
| Zdroj: | Neurology. 46(1) |
| ISSN: | 0028-3878 |
| Popis: | 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 |
| Databáze: | OpenAIRE |
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