Hereditary dystonia or parkinson – a patient with both – and problems concerning diagnostic, treatment and genetic counselling

Dopa-responsive dystonia (DRD) and juvenile Parkinson's Disease (JPD) are clinically difficult to differentiate, but clarification of the diagnosis is important for the treatment, the prognosis, and the genetic counselling of patients and families. A great advantage is the possibility to perform mutation analyses for DRD and JPD, although the locus – and allele heterogeneity of both diseases make routine analysis laborious. Here, a patient with clinical features consistent with the diagnosis JPD as well as DRD is described. Paraclinical studies revealed a mutation in the GTP cyclohydrolase I gene (GCH1), very lo…