TY - JOUR
T1 - Candidate gene studies in focal dystonia
AU - Sibbing, D.
AU - Asmus, F.
AU - König, I. R.
AU - Tezenas Du Montcel, S.
AU - Vidailhet, M.
AU - Sangla, S.
AU - Oertel, W. H.
AU - Brice, A.
AU - Ziegler, A.
AU - Gasser, T.
AU - Bandmann, O.
PY - 2003/10/28
Y1 - 2003/10/28
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0344896723&partnerID=8YFLogxK
U2 - 10.1212/01.WNL.0000090560.20641.AB
DO - 10.1212/01.WNL.0000090560.20641.AB
M3 - Journal articles
C2 - 14581671
AN - SCOPUS:0344896723
SN - 0028-3878
VL - 61
SP - 1097
EP - 1101
JO - Neurology
JF - Neurology
IS - 8
ER -
