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Title:

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.

Document type:
journal article
Author(s):
Lee, JM; Ramos, EM; Lee, JH; Gillis, T; Mysore, JS; Hayden, MR; Warby, SC; Morrison, P; Nance, M; Ross, CA; Margolis, RL; Squitieri, F; Orobello, S; Di Donato, S; Gomez-Tortosa, E; Ayuso, C; Suchowersky, O; Trent, RJ; McCusker, E; Novelletto, A; Frontali, M; Jones, R; Ashizawa, T; Frank, S; Saint-Hilaire, MH; Hersch, SM; Rosas, HD; Lucente, D; Harrison, MB; Zanko, A; Abramson, RK; Marder, K; Sequeiros, J; Paulsen, JS; PREDICT-HD study of the Huntington Study Group (HSG); Landwehrmeyer, GB; REGIS...     »
Abstract:
Age at onset of diagnostic motor manifestations in Huntington disease (HD) is strongly correlated with an expanded CAG trinucleotide repeat. The length of the normal CAG repeat allele has been reported also to influence age at onset, in interaction with the expanded allele. Due to profound implications for disease mechanism and modification, we tested whether the normal allele, interaction between the expanded and normal alleles, or presence of a second expanded allele affects age at onset of HD...     »
Journal title abbreviation:
Neurology
Year:
2012
Journal volume:
78
Journal issue:
10
Pages contribution:
690-5
Language:
eng
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/22323755
Print-ISSN:
0028-3878
TUM Institution:
Neurologische Klinik und Poliklinik
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