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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 ...
No laughing matter: subacute degeneration of the spinal cord due to nitrous oxide inhalation.
BACKGROUND: Whilst the dangers of 'legal highs' have been widely publicised in the media, very few cases of the neurological syndrome associated with the inhalation of nitrous oxide (N2O) have been reported. Here we set ...