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

• Published in: Neurology Vol. 78; no. 10; p. 690
• Main Authors: Lee, J-M, Ramos, E M, Lee, J-H, Gillis, T, Mysore, J S, Hayden, M R, Warby, S C, Morrison, P, Nance, M, Ross, C A, Margolis, R L, Squitieri, F, Orobello, S, Di Donato, S, Gomez-Tortosa, E, Ayuso, C, Suchowersky, O, Trent, R J A, McCusker, E, Novelletto, A, Frontali, M, Jones, R, Ashizawa, T, Frank, S, Saint-Hilaire, M H, Hersch, S M, Rosas, H D, Lucente, D, Harrison, M B, Zanko, A, Abramson, R K, Marder, K, Sequeiros, J, Paulsen, J S, Landwehrmeyer, G B, Myers, R H, MacDonald, M E, Gusella, J F
• Format: Journal Article
• Language: English
• Published: United States 06.03.2012
• Subjects: Adult; Age of Onset; Alleles; Female; Genotype; Humans; Huntington Disease - diagnosis; Huntington Disease - genetics; Male; Trinucleotide Repeat Expansion

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 implicati...