Candidate gene studies in focal dystonia

Neurology. 2003 Oct 28;61(8):1097-101. doi: 10.1212/01.wnl.0000090560.20641.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 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / genetics*
  • Cystathionine beta-Synthase / genetics
  • Dystonic Disorders / genetics*
  • Female
  • France
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Germany
  • HLA-DR Antigens / genetics*
  • HLA-DRB1 Chains
  • Haplotypes
  • Humans
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics
  • Molecular Chaperones / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Receptors, Dopamine D1 / genetics*
  • Receptors, Dopamine D5


  • DRD5 protein, human
  • HLA-DR Antigens
  • HLA-DRB1 Chains
  • Molecular Chaperones
  • Receptors, Dopamine D1
  • TOR1A protein, human
  • Receptors, Dopamine D5
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase
  • Cystathionine beta-Synthase