{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T01:35:29Z","timestamp":1791250529458,"version":"4.1.0"},"reference-count":29,"publisher":"Wiley","issue":"14","license":[{"start":{"date-parts":[[2010,8,4]],"date-time":"2010-08-04T00:00:00Z","timestamp":1280880000000},"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":[[2010,10,30]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in <jats:italic>THAP1<\/jats:italic>, a gene encoding a nuclear pro\u2010apoptotic protein, have been associated with DYT6 dystonia. First reports on the phenotype of DYT6 dystonia show an early onset dystonia with predominant cranio\u2010cervical and laryngeal involvement. Here we assessed the frequency and phenotype of <jats:italic>THAP1<\/jats:italic> mutation carriers in a large Dutch cohort of adult\u2010onset (\u226526 years) dystonia (n = 388) and early\u2010onset dystonia (n = 67) patients. We describe the phenotype of DYT6 dystonia patients and their response on GPi DBS. Overall, 3 nonsynonymous heterozygous mutations were detected in the early\u2010onset group (4.5%). Two DYT6 families were identified, showing a heterozygous phenotype. All patients had segmental or generalized dystonia, often associated with profound oromandibular and laryngeal involvement. No nonsynonymous mutations were found in patients with adult\u2010onset focal dystonia. Rare synonymous variants were identified in conserved regions of THAP1, two in the adult\u2010onset cervical dystonia group and one in the control group. Four DYT6 dystonia patients were treated with GPi DBS with moderate to good response on motor function but marginal benefit on speech. \u00a9 2010 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.23285","type":"journal-article","created":{"date-parts":[[2010,8,5]],"date-time":"2010-08-05T08:31:14Z","timestamp":1280997074000},"page":"2420-2427","source":"Crossref","is-referenced-by-count":91,"title":["DYT6 dystonia: Mutation screening, phenotype, and response to deep brain stimulation"],"prefix":"10.1002","volume":"25","author":[{"given":"Justus L.","family":"Groen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja","family":"Ritz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Fiorella","family":"Contarino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bart P.","family":"van de Warrenburg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Majid","family":"Aramideh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth M.","family":"Foncke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacobus J.","family":"van Hilten","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. Richard","family":"Schuurman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes D.","family":"Speelman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes H.","family":"Koelman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rob M.A.","family":"de Bie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Baas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina A.","family":"Tijssen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,10,25]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.50.5_Suppl_5.S1"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.50.5_Suppl_5.S1"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp172"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0997-40"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.304"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181d5276d"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22861"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22849"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181ca00ca"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(09)70081-X"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(09)70083-3"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(07)70035-2"},{"key":"e_1_2_7_14_2","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_7_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.f.136"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(07)70174-6"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(06)70547-6"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/105.3.461"},{"key":"e_1_2_7_19_2","first-page":"457","article-title":"Writer's cramp","volume":"50","author":"Sheehy MP","year":"1988","journal-title":"Adv Neurol"},{"key":"e_1_2_7_20_2","first-page":"211","volume-title":"Therapy with botulinum toxin","author":"Consky E","year":"2009"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.35.1.73"},{"key":"e_1_2_7_22_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0406882102"},{"key":"e_1_2_7_23_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M707537200"},{"key":"e_1_2_7_24_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1206271"},{"key":"e_1_2_7_25_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1135308"},{"key":"e_1_2_7_26_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1170160"},{"key":"e_1_2_7_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2008.08.012"},{"key":"e_1_2_7_28_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrn2337"},{"key":"e_1_2_7_29_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa042187"},{"key":"e_1_2_7_30_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(00)02410-7"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.23285","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.23285","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T11:20:02Z","timestamp":1760959202000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.23285"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,10,25]]},"references-count":29,"journal-issue":{"issue":"14","published-print":{"date-parts":[[2010,10,30]]}},"alternative-id":["10.1002\/mds.23285"],"URL":"https:\/\/doi.org\/10.1002\/mds.23285","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,10,25]]}}}