New problems in testing for Huntington's disease: the issue of intermediate and reduced penetrance alleles

Abstract excerpt

Editor—Huntington's disease (HD) is an autosomal dominant, progressive, incurable neuropsychiatric disorder, characterised by chorea, changes in personality, mood, and behaviour, and dementia. Because the mean age at onset is 40 years (range 5 to 70 years), the risk for a healthy young adult with an affected parent will remain nearly 50%, making decisions about the future and family planning difficult.1 2 After...

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