Article
NR2A and NR2B receptor gene variations modify age at onset in Huntington disease.
Neurogenetics - 1 Feb 2005
Arning Larissa, Kraus Peter H, Valentin Sandra, Saft Carsten, Andrich Jürgen, Epplen Jörg T
Abstract excerpt
N -Methyl-d-aspartate (NMDA) receptor-mediated excitotoxicity has been proposed to play a role in the pathogenesis of Huntington disease (HD), an autosomal dominantly inherited disorder associated with defined expansions in a stretch of perfect CAG repeats in the 5' part of the IT15 gene. The number of CAG repeat units is highly predictive for the age at onset (AO) in HD. However, AO is only modestly correlated...
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