Evidence for the GluR6 gene associated with younger onset age of Huntington's disease

Huntington's disease (HD) is attributed to a triplet CAG repeat mutation, and about half of the variation in onset age can be explained by the size of the repeat expansion. Recently, a TAA repeat polymorphism in close linkage to the kainate receptor, GluR6, was reported related to onset age in...

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Bibliographic Details
Published inNeurology Vol. 53; no. 6; p. 1330
Main Authors MacDonald, M E, Vonsattel, J P, Shrinidhi, J, Couropmitree, N N, Cupples, L A, Bird, E D, Gusella, J F, Myers, R H
Format Journal Article
LanguageEnglish
Published United States 12.10.1999
Subjects
Adolescent
Adult
Age of Onset
Aged
Aged, 80 and over
Child
Female
Genotype
GluK2 Kainate Receptor
Humans
Huntington Disease - genetics
Huntington Disease - physiopathology
Male
Middle Aged
Receptors, Kainic Acid - genetics
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Summary:Huntington's disease (HD) is attributed to a triplet CAG repeat mutation, and about half of the variation in onset age can be explained by the size of the repeat expansion. Recently, a TAA repeat polymorphism in close linkage to the kainate receptor, GluR6, was reported related to onset age in HD. We examined this polymorphism in 258 unrelated HD-affected persons (172 from a clinic sample and 86 from a postmortem series). This study confirms that the 155 allele is associated with younger onset age of HD and suggests that it is in linkage disequilibrium with a variant of the GluR6 gene or another gene in this region.
ISSN:0028-3878
DOI:10.1212/WNL.53.6.1330