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. 2000 Apr;47(4):517-20.

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

Y Furukawa  1 , M Guttman, S P Sparagana, J M Trugman, K Hyland, P Wyatt, A E Lang, G A Rouleau, M Shimadzu, S J Kish
Affiliations
  • PMID: 10762165

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

Y Furukawa et al. Ann Neurol. 2000 Apr.

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.

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