| GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs. | |
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MedLine Citation:
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PMID: 9328244 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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P R Jarman; O Bandmann; C D Marsden; N W Wood |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Journal of neurology, neurosurgery, and psychiatry Volume: 63 ISSN: 0022-3050 ISO Abbreviation: J. Neurol. Neurosurg. Psychiatr. Publication Date: 1997 Sep |
Date Detail:
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Created Date: 1997-11-03 Completed Date: 1997-11-03 Revised Date: 2010-08-25 |
Medline Journal Info:
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Nlm Unique ID: 2985191R Medline TA: J Neurol Neurosurg Psychiatry Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 304-8 Citation Subset: IM |
Affiliation:
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University Department of Clinical Neurology, Institute of Neurology, Queen Square, London, UK. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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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:
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//Wellcome Trust |
| Chemical | |
Reg. No./Substance:
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0/Cholinergic Antagonists; 144-11-6/Trihexyphenidyl; EC 3.5.4.16/GTP Cyclohydrolase |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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