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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 ...
The BRAIN test: a keyboard-tapping test to assess disability and clinical features of multiple sclerosis.
BACKGROUND: The BRadykinesia Akinesia INcordination (BRAIN) test is an online keyboard-tapping test previously validated as a sensitive tool for detecting signs of Parkinson's disease. OBJECTIVES: To determine whether the ...