Article
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.
Neurology - 6 Mar 2012
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
Abstract excerpt
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 profound implications for disease mechanism and modification, we tested whether the normal allele, interaction between the...
Topics
- Adult
- Age of Onset
- Alleles
- Female
- Genotype
- Humans
- Huntington Disease
- Male
- Trinucleotide Repeat Expansion