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Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia

From the Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tubingen, Germany (C.K., F.A., M.S., J.C.M., T.G.); Department of Neurology, Medical University Innsbruck, Austria (J.M., U.J.M., R.E., W.P.); Department of General and Transplant Surgery, University of Tubingen, Germany (P.M., S.B.); Institute of Epidemiology, GSF–National Research Center for Environment and Health, Neuherberg, Germany (T.I., H.E.W.); and Institute for Medical Statistics and Epidemiology and Institute for Psychiatry and Psychotherapy, Technical University, Munich, Germany (J.C.M.).

Address correspondence and reprint requests to Dr. Thomas Gasser, Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tuebingen, Hoppe-Seyler-Str. 3, 72086 Tuebingen, Germany; e-mail: thomas.gasser{at}med.uni-tuebingen.de

Recently, association of a TOR1A(DYT1)/TOR1B risk haplotype with common forms of idiopathic dystonia has been reported in the Icelandic population. Here we report a strong association of two single nucleotide polymorphisms within or in close proximity to the TOR1A 3'UTR, with the lowest p value being 0.000008, in a larger cohort of German and Austrian patients with predominantly focal sporadic dystonia.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the November 28 issue to find the title link for this article.

Supported in part by the German Network for Hereditary Movement Disorders, GeNeMove (01GM0304), funded by the German Ministry for Education and Research (GMER). J.C.M and the KORA research platform were supported by the German National Genome Network, also funded by the GMER. The KORA research platform (KORA: Cooperative Research in the Region of Augsburg; www.gsf.de/KORA) was initiated and financed by the GSF–National Research Center for Environment and Health, which is funded by the GMER and by the State of Bavaria. The KORA Group consists of H.E. Wichmann (speaker), H. Löwel, C. Meisinger, T. Illig, R. Holle, J. John, and their coworkers who are responsible for the design and conduct of the KORA studies.

Disclosure: The authors report no conflicts of interest.

Received December 29, 2005. Accepted in final form August 1, 2006.

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