Neuropathological diagnosis and CAG repeat expansion in Huntington's disease.

Author:

Xuereb J H,MacMillan J C,Snell R,Davies P,Harper P S

Publisher

BMJ

Subject

Psychiatry and Mental health,Clinical Neurology,Surgery

Reference7 articles.

1. The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is neuropathological changes despite a typical clinical illness and a positive family history, indicating the possibility that a Vonsattel's grade 0 phenocopy may occur. The rarity of expanded and unstable on Huntington's disease chromosomes;Cell,1993

2. A study comparing mutation triplet repeat size and phenotypes in patients with Huntington's disease;Neal, J.W.; Fenton, I.; Macmillan, J.C.,1994

3. Neuropathological classification of Huntington's disease;Vonsattel, J.P.; Myers, R.H.; Stevens, T.J.; Ferrante, R.J.; Bird, E.D.; Richardson, E.P.,]

4. Relationship between trinucleotide repeat expansion and phenotypic examination remains a valuable diagnostic procedure in clinically suspicious cases of variation in Huntington's disease;Snell, R.; MacMillan, J.C.; Cheadle, J.P.;Nature Genietics,1993

5. Somatic and Huntington's disease with a normal CAG repeat size. In such problematic cases, it is recgonadal mosaicism of the Huntington disease gene repeat in brain and sperm;Telenius, H.; Kremer, B.; Goldberg, Y.P.;Nature Genietics,1994

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