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Background

Genetic susceptibility factors for focal idiopathic torsion dystonia (F-ITD) are not established. Mutations in the DYT1 gene can cause focal dystonia, and an association with a polymorphism in the D5 receptor gene (DRD5) has been reported but not confirmed.

Objective

To investigate a possible role of DYT1 polymorphisms, a CA repeat in the D5 receptor gene (DRD5), the human leukocyte antigen (HLA)-DRB locus, and four polymorphisms in the homocysteine metabolism in the pathogenesis of F-ITD.

Methods

Initially, 100 German patients and 100 matched control subjects were investigated. A second French population with 121 F-ITD patients and matched control subjects was also studied.

Results

Two polymorphisms of the beta-cystathionine synthase gene were associated with F-ITD in the German population, but this finding was not replicated in a second independent F-ITD patient and control group of French origin. None of the other investigated polymorphisms was associated with F-ITD. The authors failed to confirm a previously reported association with a polymorphism in DRD5.

Conclusion

No evidence for an involvement of DYT1, DRD5, HLA-DRB, or polymorphisms in the homocysteine pathway in the pathogenesis of F-ITD was found."xsd:string
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http://purl.uniprot.org/citations/14581671http://purl.uniprot.org/core/author"Brice A."xsd:string
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http://purl.uniprot.org/citations/14581671http://purl.uniprot.org/core/author"Bandmann O."xsd:string
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http://purl.uniprot.org/citations/14581671http://purl.uniprot.org/core/date"2003"xsd:gYear
http://purl.uniprot.org/citations/14581671http://purl.uniprot.org/core/name"Neurology"xsd:string
http://purl.uniprot.org/citations/14581671http://purl.uniprot.org/core/pages"1097-1101"xsd:string
http://purl.uniprot.org/citations/14581671http://purl.uniprot.org/core/title"Candidate gene studies in focal dystonia."xsd:string
http://purl.uniprot.org/citations/14581671http://purl.uniprot.org/core/volume"61"xsd:string
http://purl.uniprot.org/citations/14581671http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/14581671
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