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Candidate gene studies in focal dystonia

From the Department of Neurology (Drs. Oertel and Bandmann, D. Sibbing), Philipps University, Marburg, Center of Neurology (Drs. Asmus and Gasser), Department of Neurodegenerative Diseases, Hertie Institute for Brain Research, Tübingen, and Institute of Medical Biometry and Statistics (Drs. König and Ziegler), University at Lübeck, Germany; and Biostatistics and Medical Informatics Department (Dr. Tezenas du Montcel), INSERM U289 (Dr. Vidailhet), and Department of Genetics, Cytogenetics, and Embryology (Dr. Brice), Hôpital de la Salpetrière, and INSERM U436 (Dr. Tezenas du Montcel), Paris, Service de neurologie (Dr. Sangla), Hôpital Saint-Antoine, and Service de neurologie (Dr. Brice), Hôpital de la Fontaine, Saint-Denis, France.

Address correspondence and reprint requests to Dr. O. Bandmann, Academic Neurology Unit, Medical School, E Floor, University of Sheffield, Beech Hill Road, Sheffield S10 2RX, UK; e-mail: o.bandmann{at}sheffield.ac.uk

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 ß-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.

Received February 3, 2003. Accepted in final form July 16, 2003.

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