Article
A genetic variation in the ADORA2A gene modifies age at onset in Huntington's disease.
Neurobiology of disease - 1 Sept 2009
Dhaenens Claire-Marie, Burnouf Sylvie, Simonin Clémence, Van Brussel Edwige, Duhamel Alain, Defebvre Luc, Duru Cécile, Vuillaume Isabelle, Cazeneuve Cécile, Charles Perrine, Maison Patrick, Debruxelles Sabrina, Verny Christophe, Gervais Hélène, Azulay Jean-Philippe, Tranchant Christine, Bachoud-Levi Anne-Catherine, Dürr Alexandra, Buée Luc, Krystkowiak Pierre, Sablonnière Bernard, Blum David
Abstract excerpt
Based on the pathophysiological role of adenosine A(2A) receptors in HD, we have evaluated the association of the 1976C/T single-nucleotide polymorphism in the ADORA2A gene (rs5751876) with residual age at onset (AAO) in HD. The study population consisted of 791 unrelated patients belonging to the Huntington French Speaking Network. The variability in AAO attributable to the CAG repeats number was calculated by...
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