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Huntington's disease as caused by 34 CAG repeats

28 Feb 2008

Abstract excerpt

Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disorder caused by an abnormal expansion of a polymorphic stretch of CAG repeats in the coding 5' part of the HD gene on chromosome 4p. Expansions of CAG blocks beyond 35 repeats are associated with the clinical presentation of HD. There is an intermediate range of rare alleles between 27 and 35 CAG repeats with a higher risk for...

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PMID: 18307262
DOI: 10.1002/mds.21958

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