Aktuelle Neurologie 2005; 32 - A11
DOI: 10.1055/s-2005-916298

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

LE Hjermind 1, LG Johannsen 2, N Blau 3, RA Wevers 4, CB Lucking 5, JM Hertz 6, L Friberg 7, L Regeur 8, JE Nielsen 1, SA Sørensen 1
  • 1Department of Medical Genetics, The Panum Institute, University of Copenhagen, Denmark
  • 2Department of Neurology, University Hospital of Odense, Denmark
  • 3Division of Clin. Chemistry and Biochemistry, University Children's Hospital, Zurich, Switzerland
  • 4Laboratory of Pediatrics and Neurology, University Hospital Nijmegen, the Netherlands:
  • 5Neurological Clinic, Ludwig-Maximilians-Universitat Munchen (LMU), Munchen; Germany.
  • 6Department of Clinical Genetics, Aarhus University Hospital, Denmark
  • 7Department of Clin. Physiology & Nuclear Med., Bispebjerg University Hospital of Copenhagen, Denmark
  • 8Department of Neurology, Bispebjerg University Hospital of Copenhagen, Copenhagen, Denmark

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 low activity of the enzyme GTP cyclohydrolase I (GTPCH) in the fibroblasts was and a decrease in 123I-FP-CIT binding ratios. It was concluded that the patient probably suffers from two movement disorders, normally considered to be differential diagnosis.