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

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 ge...

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Bibliographic Details
Published in:Annals of neurology 2000-04, Vol.47 (4), p.517-520
Main Authors: Furukawa, Yoshiaki, Guttman, Mark, Sparagana, Steven P., Trugman, Joel M., Hyland, Keith, Wyatt, Philip, Lang, Anthony E., Rouleau, Guy A., Shimadzu, Mitsunobu, Kish, Stephen J.
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Blotting, Southern
DNA Mutational Analysis
DNA, Complementary
Dopamine Agents - administration & dosage
Dystonia - drug therapy
Dystonia - enzymology
Dystonia - genetics
Family Health
Female
Gene Deletion
GTP Cyclohydrolase - genetics
Humans
Levodopa - administration & dosage
Male
Medical sciences
Middle Aged
Nervous system (semeiology, syndromes)
Nervous system as a whole
Neurology
Pedigree
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Summary: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. Ann Neurol 2000;47:517–520.
ISSN:0364-5134
1531-8249
DOI:10.1002/1531-8249(200004)47:4<517::AID-ANA17>3.0.CO;2-B