Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers

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...

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Main Authors: 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.
Format: Artigo
Language:Inglês
Published: Oxford University Press 2014
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4132650/
https://ncbi.nlm.nih.gov/pubmed/24993959
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awu179
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