Candidate gene studies in focal dystonia

D. Sibbing, F. Asmus, I. R. König, S. Tezenas Du Montcel, M. Vidailhet, S. Sangla, W. H. Oertel, A. Brice, A. Ziegler, T. Gasser, O. Bandmann*

*Corresponding author for this work
37 Citations (Scopus)


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 β-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.

Original languageEnglish
Issue number8
Pages (from-to)1097-1101
Number of pages5
Publication statusPublished - 28.10.2003


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