Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome

Neurology. 2002 Oct 22;59(8):1241-3. doi: 10.1212/wnl.59.8.1241.

Abstract

The authors report a kindred in which GTP-CH deficiency resulted in a myoclonus-dystonia syndrome. The proband, a 17-year-old boy, presented with early-onset myoclonus and later, dystonia and bradykinesia. Blood prolactin was increased and CSF homovanillic acid, 5-hydroxyindoleacetic acid, and biopterin were all reduced. L-Dopa/carbidopa administration resulted in clinical improvement. In the paternal branch, the grandfather and three relatives had myoclonus-dystonia and resting or postural tremor of limbs. The authors found a missense mutation in the exon 6 of GCH-1 gene (K224R).

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Diagnosis, Differential
  • Dystonia / diagnosis
  • Dystonia / drug therapy
  • Dystonia / enzymology
  • Dystonia / genetics*
  • Female
  • GTP Cyclohydrolase / deficiency*
  • GTP Cyclohydrolase / genetics*
  • Genes, Dominant / genetics
  • Genetic Carrier Screening
  • Humans
  • Levodopa / therapeutic use*
  • Male
  • Middle Aged
  • Mutation, Missense / genetics
  • Myoclonus / diagnosis
  • Myoclonus / drug therapy
  • Myoclonus / enzymology
  • Myoclonus / genetics*
  • Pedigree
  • Syndrome

Substances

  • Levodopa
  • GTP Cyclohydrolase