The Genetic Defect Causing Huntington’s Disease: Repeated in Other Contexts?

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molecular analysis of the (cag)n repeat causing huntingtons disease in 66 iranian families

huntington’s disease (hd) is an inherited neurodegenerative disorder characterized by chorea and progressive dementia. the mutation causing the disease has been identified as an unstable expansion of a tri-nucleotide (cag) n at the 5 end of the it 15 gene on chromosome 4. we analyzed the distribution of cag repeats in 66 iranian patients belonging to 66 unrelated families. we found one expanded...

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huntingtons disease (hd) is an autosomal dominant inherited disease characterized by involuntary movements, behavioral and personality changes, dementia and cognitive decline. although the mean age of onset is about 40 years, it varies from 5 to 79 years. therefore, at-risk individuals are never sure to have escaped the disease. hd is a member of the growing family of neurodegenerative disorder...

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Huntington’s disease (HD) is a late-onset neurodegenerative disorder that is caused by a CAG repeat expansion in the IT15 gene, which results in a long stretch of polyglutamine close to the amino-terminus of the HD protein huntingtin (htt). The normal function of htt, and the molecular mechanisms that contribute to the disease pathogenesis, are in the process of being elucidated. In this review...

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ژورنال

عنوان ژورنال: Molecular Medicine

سال: 1997

ISSN: 1076-1551,1528-3658

DOI: 10.1007/bf03401677