{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T00:29:02Z","timestamp":1761006542918,"version":"build-2065373602"},"reference-count":16,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,3,4]],"date-time":"2013-03-04T00:00:00Z","timestamp":1362355200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2013,6]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Studies of genetic association between <jats:italic>TOR1A<\/jats:italic> and adult\u2010onset primary torsion dystonia have contradictory results.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The authors genotyped <jats:italic>TOR1A<\/jats:italic> 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\u2010control <jats:italic>TOR1A<\/jats:italic> association studies in adult\u2010onset primary torsion dystonia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In this Dutch cervical dystonia cohort, no significant association was found with <jats:italic>TOR1A<\/jats:italic> variants. In the meta\u2010analysis (eight studies, 1332 adult\u2010onset 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\u20132.02).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Meta\u2010analysis does not show association with common variants in <jats:italic>TOR1A<\/jats:italic> in adult\u2010onset primary dystonia, except for the functional variant rs1801968 in familial focal dystonia cases. \u00a9 2013 <jats:italic>Movement<\/jats:italic> Disorder Society<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.25381","type":"journal-article","created":{"date-parts":[[2013,3,4]],"date-time":"2013-03-04T23:22:18Z","timestamp":1362439338000},"page":"827-831","source":"Crossref","is-referenced-by-count":13,"title":["Is TOR1A a risk factor in adult\u2010onset primary torsion dystonia?"],"prefix":"10.1002","volume":"28","author":[{"given":"Justus L.","family":"Groen","sequence":"first","affiliation":[{"name":"Department of Neurology, Academic Medical Center University of Amsterdam Amsterdam the Netherlands"},{"name":"Department of Genome Analysis, Academic Medical Center University of Amsterdam Amsterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katja","family":"Ritz","sequence":"additional","affiliation":[{"name":"Department of Genome Analysis, Academic Medical Center University of Amsterdam Amsterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael W.","family":"Tanck","sequence":"additional","affiliation":[{"name":"Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Center University of Amsterdam Amsterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bart P.","family":"van de Warrenburg","sequence":"additional","affiliation":[{"name":"Department of Neurology Radboud University Nijmegen Medical Center Nijmegen the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacobus J.","family":"van Hilten","sequence":"additional","affiliation":[{"name":"Department of Neurology Leiden University Medical Center Leiden the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Majid","family":"Aramideh","sequence":"additional","affiliation":[{"name":"Department of Neurology Medical Center Alkmaar Alkmaar the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frank","family":"Baas","sequence":"additional","affiliation":[{"name":"Department of Genome Analysis, Academic Medical Center University of Amsterdam Amsterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina A. J.","family":"Tijssen","sequence":"additional","affiliation":[{"name":"Department of Neurology University Medical Center Groningen, University of Groningen Groningen the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,3,4]]},"reference":[{"key":"e_1_2_8_2_1","first-page":"95","article-title":"An epidemiologic survey of dystonia within the entire population of northeast England over the past nine years","volume":"94","author":"Butler AG","year":"2004","journal-title":"Adv Neurol"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000090560.20641.AB"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20485"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000244423.63406.17"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.2006.00663.x"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21182"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000203344.43342.18"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181a1861e"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.23225"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2004.06.014"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2012-302729"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(03)12516-0"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22471"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000313838.05734.8a"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/518427"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl055"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.25381","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.25381","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.25381","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T09:18:07Z","timestamp":1760951887000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.25381"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,3,4]]},"references-count":16,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2013,6]]}},"alternative-id":["10.1002\/mds.25381"],"URL":"https:\/\/doi.org\/10.1002\/mds.25381","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"type":"print","value":"0885-3185"},{"type":"electronic","value":"1531-8257"}],"subject":[],"published":{"date-parts":[[2013,3,4]]}}}