Article
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
Brain : a journal of neurology - 1 Sept 2014
Mencacci Niccolò E, Isaias Ioannis U, Reich Martin M, Ganos Christos, Plagnol Vincent, Polke James M, Bras Jose, Hersheson Joshua, Stamelou Maria, Pittman Alan M, Noyce Alastair J, Mok Kin Y, Opladen Thomas, Kunstmann Erdmute, Hodecker Sybille, Münchau Alexander, Volkmann Jens, Samnick Samuel, Sidle Katie, Nanji Tina, Sweeney Mary G, Houlden Henry, Batla Amit, Zecchinelli Anna L, Pezzoli Gianni, Marotta Giorgio, Lees Andrew, Alegria Paulo, Krack Paul, Cormier-Dequaire Florence, Lesage Suzanne, Brice Alexis, Heutink Peter, Gasser Thomas, Lubbe Steven J, Morris Huw R, Taba Pille, Koks Sulev, Majounie Elisa, Raphael Gibbs J, Singleton Andrew, Hardy John, Klebe Stephan, Bhatia Kailash P, Wood Nicholas W
Abstract excerpt
GTP cyclohydrolase 1, encoded by the GCH1 gene, is an essential enzyme for dopamine production in nigrostriatal cells. Loss-of-function mutations in GCH1 result in severe reduction of dopamine synthesis in nigrostriatal cells and are the most common cause of DOPA-responsive dystonia, a rare disease that classically presents in childhood with generalized dystonia and a dramatic long-lasting response to levodopa....
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