Is TOR1A a risk factor in adult-onset primary torsion dystonia?

Mov Disord. 2013 Jun;28(6):827-31. doi: 10.1002/mds.25381. Epub 2013 Mar 4.


Background: Studies of genetic association between TOR1A and adult-onset primary torsion dystonia have contradictory results.

Methods: The authors genotyped TOR1A single nucleotide polymorphisms rs1801968, rs2296793, rs1182 and rs3842225 in a cohort of clinically well characterized cervical dystonia patients (n=367) and constructed haplotypes. The authors systematically reviewed the published case-control TOR1A association studies in adult-onset primary torsion dystonia.

Results: In this Dutch cervical dystonia cohort, no significant association was found with TOR1A variants. In the meta-analysis (eight studies, 1332 adult-onset primary dystonia patients) no variant reached overall significance. However, in a selection of familial cases the functional variant p.Asp216His (rs1801968) was associated with increased dystonia risk (odds ratio 1.43; 95%CI 1.01-2.02).

Conclusions: Meta-analysis does not show association with common variants in TOR1A in adult-onset primary dystonia, except for the functional variant rs1801968 in familial focal dystonia cases.

Publication types

  • Meta-Analysis
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Cohort Studies
  • Dystonia Musculorum Deformans / genetics*
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Haplotypes
  • Humans
  • Male
  • Middle Aged
  • Molecular Chaperones / genetics*
  • Polymorphism, Single Nucleotide / genetics*


  • Molecular Chaperones
  • TOR1A protein, human

Supplementary concepts

  • Dystonia musculorum deformans type 1