Arg(184)his mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: A case report


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We describe a 54-year-old man with dominant adult-onset dopa-responsive dystonia (DRD) with parkinsonism caused by an Arg184His mutation in guanosine 5′-triphosphate cyclohydrolase I (GCH-I). This is the first mutation in the GCH-I gene that has been proven to be responsible for both recessive and dominant phenotypes. © 2004 Movement Disorder Society