Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene

Yoshiaki Furukawa, Mark Guttman, Steven P. Sparagana, Joel M. Trugman, Keith Hyland, Philip Wyatt, Anthony E. Lang, Guy A. Rouleau, Mitsunobu Shimadzu, Stephen J. Kish

Research output: Contribution to journalArticlepeer-review

59 Scopus citations


Although it is assumed that most patients with autosomal dominant dopa- responsive dystonia (DRD) have a GTP cyclohydrolase I dysfunction, conventional genomic DNA sequencing of the gene (GCH1) coding for this enzyme fails to reveal any mutations in about 40% of DRD patients, which makes molecular genetic diagnosis difficult. We found a large heterozygous GCH1 deletion, which cannot be detected by the usual genomic DNA sequence analysis, in a three-generation DRD family and conclude that a large genomic deletion in GCH1 may account for some 'mutation-negative' patients with dominantly inherited DRD.

Original languageEnglish (US)
Pages (from-to)517-520
Number of pages4
JournalAnnals of Neurology
Issue number4
StatePublished - Apr 19 2000

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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