GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation

Neurosci Lett. 1995 Aug 18;196(1-2):5-8. doi: 10.1016/0304-3940(95)11820-m.

Abstract

We previously reported four different mutations in the coding region of GTP cyclohydrolase I (GCH-I) gene in patients with hereditary progressive dystonia with marked diurnal fluctuation (HPD). We found two independent new mutations (leucine 79 proline and a deletion in exon 4) in patients with HPD. We also found four families of HPD without any mutations in the coding region of GCH-I gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Dystonia / genetics*
  • Family
  • GTP Cyclohydrolase / genetics*
  • Genes / genetics*
  • Guanosine Triphosphate / genetics*
  • Humans
  • Molecular Sequence Data
  • Mutation

Substances

  • Guanosine Triphosphate
  • GTP Cyclohydrolase