GCH1 mutation in a patient with adult-onset oromandibular dystonia

Neurology. 1999 Mar 10;52(4):877-9. doi: 10.1212/wnl.52.4.877.

Abstract

The authors report a mutation in exon 5 of GCH1 in a patient with adult-onset oromandibular dystonia and no obvious family history of dystonia. The patient responded positively to treatment with L-dopa. These findings demonstrate that GCH1 mutations must be considered even in patients with dystonic symptoms not typical of dopa-responsive dystonia.

Publication types

  • Case Reports

MeSH terms

  • Age of Onset
  • DNA / analysis
  • Dystonia / genetics*
  • Exons
  • Female
  • GTP Cyclohydrolase / genetics*
  • Humans
  • Mandible*
  • Middle Aged
  • Mouth*
  • Mutation*
  • Polymorphism, Single-Stranded Conformational

Substances

  • DNA
  • GTP Cyclohydrolase