Article
Huntington disease phenocopy is a familial prion disease.
American journal of human genetics - 1 Dec 2001
Moore R C, Xiang F, Monaghan J, Han D, Zhang Z, Edström L, Anvret M, Prusiner S B
Abstract excerpt
Huntington disease (HD) is a common autosomal dominant neurodegenerative disease with early adult-onset motor abnormalities and dementia. Many studies of HD show that huntingtin (CAG)n repeat-expansion length is a sensitive and specific marker for HD. However, there are a significant number of examples of HD in the absence of a huntingtin (CAG)n expansion, suggesting that mutations in other genes can provoke...
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