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• W1997686154 abstract "Huntington disease (HD) is one of five neurodegenerative disorders resulting from an expansion of a CAG repeat located within the coding portion of a novel gene. CAG repeat expansion beyond a particular repeat size has been shown to be a specific and sensitive marker for the disease. A strong inverse correlation is evident between CAG length and age of onset. Sporadic cases of HD have been shown to arise from intermediate sized alleles in the unaffected parent. The biochemical pathways underlying the relationship between CAG repeat length and specific cell death are not yet known. However, there is an increasing understanding of how and why specific chromosomes and not others expand into the disease range. Haplotype analysis has demonstrated that certain normal chromosomes, with CAG lengths at the high range of normal, are prone to further expansion and eventually result in HD chromosomes. New mutations preferentially occur on normal chromosomes with these same haplotypes associated with higher CAG lengths. The distribution of different haplotypes on control chromosomes in different populations is thus one indication of the frequency of new mutations for HD within that population. Analysis of normal chromosomes in different populations suggests that genetic factors contribute to expansion and account for the variation in prevalence rates for HD worldwide." @default.
• W1997686154 created "2016-06-24" @default.
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• W1997686154 date "1995-09-01" @default.
• W1997686154 modified "2023-09-27" @default.
• W1997686154 title "Origins and evolution of huntington disease chromosomes" @default.
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• W1997686154 doi "https://doi.org/10.1016/1055-8330(95)90013-6" @default.
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