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.
- Arg(184)His mutant
- Dopa-responsive dystonia with parkinsonism
- GTP cyclohydrolase I gene
ASJC Scopus subject areas
- Clinical Neurology