Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia onset

Ann Neurol. 1996 Nov;40(5):796-8. doi: 10.1002/ana.410400517.


We present a new Japanese family with hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia. The affected daughter and her asymptomatic father are heterozygous for a novel missense mutation that replaces His by Pro at codon 144 in the GTP cyclohydrolase I gene. Quantitative reverse transcription-polymerase chain reaction revealed a higher ratio of mutant/normal mRNA encoding GTP cyclohydrolase I in the patient. These results demonstrate the importance of mutant mRNA levels for phenotypic variability among cases with the same mutation.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • Circadian Rhythm
  • Dystonia / drug therapy*
  • Dystonia / genetics*
  • Dystonia / physiopathology
  • Exons
  • Female
  • GTP Cyclohydrolase / biosynthesis
  • GTP Cyclohydrolase / genetics*
  • Histidine
  • Humans
  • Introns
  • Japan
  • Levodopa / therapeutic use*
  • Male
  • Nuclear Family
  • Point Mutation*
  • Polymerase Chain Reaction
  • Proline
  • RNA, Messenger / biosynthesis


  • RNA, Messenger
  • Levodopa
  • Histidine
  • Proline
  • GTP Cyclohydrolase