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 journalArticle

53 Scopus citations

Abstract

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
Volume47
Issue number4
DOIs
StatePublished - Apr 19 2000

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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    Furukawa, Y., Guttman, M., Sparagana, S. P., Trugman, J. M., Hyland, K., Wyatt, P., Lang, A. E., Rouleau, G. A., Shimadzu, M., & Kish, S. J. (2000). Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene. Annals of Neurology, 47(4), 517-520. https://doi.org/10.1002/1531-8249(200004)47:4<517::AID-ANA17>3.0.CO;2-B