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

J-M Lee, E M Ramos, J-H Lee, T Gillis, J S Mysore, M R Hayden, S C Warby, P Morrison, M Nance, C A Ross, R L Margolis, F Squitieri, S Orobello, S Di Donato, E Gomez-Tortosa, C Ayuso, O Suchowersky, R J A Trent, E McCusker, A NovellettoM Frontali, R I Jones, T Ashizawa, S Frank, M H Saint-Hilaire, S M Hersch, H D Rosas, D Lucente, M Harrison, A Zanko, R K Abramson, K Marder, J Sequeiros, J S Paulsen, G B Landwehrmeyer, R H Myers, M E MacDonald, J F Gusella, PREDICT-HD study of the Huntington Study Group (HSG), Lena Elisabeth Hjermind, Jørgen Erik Nielsen

252 Citationer (Scopus)

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 motor signs.
OriginalsprogEngelsk
TidsskriftNeurology
Vol/bind78
Udgave nummer10
Sider (fra-til)690-5
Antal sider6
ISSN0028-3878
DOI
StatusUdgivet - 2012

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