Article
The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism.
Journal of neurology, neurosurgery, and psychiatry - 1 Jun 2013
Klebe Stephan, Golmard Jean-Louis, Nalls Michael A, Saad Mohamad, Singleton Andrew B, Bras Jose M, Hardy John, Simon-Sanchez Javier, Heutink Peter, Kuhlenbäumer Gregor, Charfi Rim, Klein Christine, Hagenah Johann, Gasser Thomas, Wurster Isabel, Lesage Suzanne, Lorenz Delia, Deuschl Günther, Durif Franck, Pollak Pierre, Damier Philippe, Tison François, Durr Alexandra, Amouyel Philippe, Lambert Jean-Charles, Tzourio Christophe, Maubaret Cécilia, Charbonnier-Beaupel Fanny, Tahiri Khadija, Vidailhet Marie, Martinez Maria, Brice Alexis, Corvol Jean-Christophe
Abstract excerpt
The catechol-O-methyltranferase (COMT) is one of the main enzymes that metabolise dopamine in the brain. The Val158Met polymorphism in the COMT gene (rs4680) causes a trimodal distribution of high (Val/Val), intermediate (Val/Met) and low (Met/Met) enzyme activity. We tested whether the Val158Met polymorphism is a modifier of the age at onset (AAO) in Parkinson's disease (PD). The rs4680 was genotyped in a total...
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