Document Detail


GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs.
MedLine Citation:
PMID:  9328244     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVES: To investigate the hypothesis that GTP cyclohydrolase I (GCH1) mutations are responsible for the phenotype of highly anticholinergic responsive dystonia in patients with apparent primary torsion dystonia. METHODS: From 107 British patients with clinically diagnosed primary torsion dystonia, seven patients were identified with an excellent response to anticholinergic drugs. All six exons of the GCH1 gene were sequenced in these patients to identify mutations. RESULTS: Three novel GCH1 mutations were identified in two patients. One patient was a compound heterozygote with asymptomatic carrier parents. The clinical phenotype of patients with and without GCH1 mutations was similar. CONCLUSIONS: These findings show that a proportion of patients with apparent primary torsion dystonia and a good response to anticholinergic drugs have GCH1 mutations and therefore have a variant of dopa responsive dystonia. The difficulty in distinguishing clinically between patients with and without mutations underscores the importance of considering the diagnosis of a levodopa responsive dystonia in all such patients.
Authors:
P R Jarman; O Bandmann; C D Marsden; N W Wood
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of neurology, neurosurgery, and psychiatry     Volume:  63     ISSN:  0022-3050     ISO Abbreviation:  J. Neurol. Neurosurg. Psychiatr.     Publication Date:  1997 Sep 
Date Detail:
Created Date:  1997-11-03     Completed Date:  1997-11-03     Revised Date:  2010-08-25    
Medline Journal Info:
Nlm Unique ID:  2985191R     Medline TA:  J Neurol Neurosurg Psychiatry     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  304-8     Citation Subset:  IM    
Affiliation:
University Department of Clinical Neurology, Institute of Neurology, Queen Square, London, UK.
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MeSH Terms
Descriptor/Qualifier:
Adult
Alleles
Base Sequence
Cholinergic Antagonists / therapeutic use*
Dystonia / drug therapy*,  enzymology*,  genetics
Female
GTP Cyclohydrolase / metabolism*
Heterozygote
Humans
Male
Molecular Sequence Data
Pedigree
Phenotype
Point Mutation*
Polymerase Chain Reaction
Trihexyphenidyl / therapeutic use*
Grant Support
ID/Acronym/Agency:
//Wellcome Trust
Chemical
Reg. No./Substance:
0/Cholinergic Antagonists; 144-11-6/Trihexyphenidyl; EC 3.5.4.16/GTP Cyclohydrolase
Comments/Corrections

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