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

Lee, J.-M.; Ramos, E.M.; Lee, J.-H.; Gillis, Tammy; Srinidhi Mysore, Jayalakshmi; R. Hayden, Michael; C. Warby, Simon; Morrison, PJ; Nance, Martha; A. Ross, Christopher; L. Margolis, Russell; Squitieri, Ferdinando; Orobello, S.; Di Donato, Stefano; Gómez‐Tortosa, Estrella; Ayuso, Carmen; Suchowersky, Oksana; J Trent, R; McCusker, Elizabeth; Novelletto, Andrea; Frontali, Marina; Jones, Randi; Ashizawa, Tetsuo; Frank, Samuel; Saint‐Hilaire, Marie; M. Hersch, Steven; Diana Rosas, H.; Lucente, Diane; Harrison, Madeline; Zanko, Andrea; K. Abramson, Ruth; Marder, Karen; Sequeiros, Jorge; S. Paulsen, Jane; Bernhard Landwehrmeyer, G.; H. Myers, Richard; E. MacDonald, Marcy; F. Gusella, James; Dürr, Alexandra; Rosenblatt, Adam; Frati, Luigi; B. Perlman, Susan; M. Conneally, P.; Lou Klimek, Mary; Diggin, Melissa; C. Hadzi, Tiffany; Duckett, Ayana; Ahmed, Anwar; Allen, Paul; Ames, David; Anderson, Christine; J. 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doi:10.1212/wnl.0b013e318249f683

Public

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

Published in Neurology • Feb 9, 2012

Authors:

J.-M. Lee

E.M. Ramos

J.-H. Lee

Abstract

OBJECTIVE: 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 profoun...

Subject

Allele

Age of onset

Huntington's disease

Research Assistant

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