{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T01:35:45Z","timestamp":1791250545992,"version":"4.1.0"},"reference-count":31,"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>The purpose of the study was to delineate clinical and electrophysiological characteristics as well as laryngoscopical and transcranial ultrasound (TCS) findings in <jats:italic>THAP1<\/jats:italic> mutation carriers (MutC). According to recent genetic studies, <jats:italic>DYT6<\/jats:italic> (<jats:italic>THAP1<\/jats:italic>) gene mutations are an important cause of primary early\u2010onset dystonia. In contrast to <jats:italic>DYT1<\/jats:italic> mutations, <jats:italic>THAP1<\/jats:italic> mutations are associated with primary early\u2010onset segmental or generalised dystonia frequently involving the craniocervical region and the larynx. Blood samples from twelve individuals of three German families with <jats:italic>DYT6<\/jats:italic> positive index cases were obtained to test for <jats:italic>THAP1<\/jats:italic> mutations. Eight <jats:italic>THAP1<\/jats:italic> MutC were identified. Of these, six (three symptomatic and three asymptomatic) <jats:italic>THAP1<\/jats:italic> MutC could be clinically evaluated. Laryngoscopy was performed to evaluate laryngeal dysfunction in patients. Brainstem echogenicity was investigated in all MutC using TCS. Two of the patients had undergone bilateral pallidal DBS. In all three symptomatic MutC, early\u2010onset laryngeal dystonia was a prominent feature. Laryngeal assessment demonstrated adductor\u2010type dystonia in all of them. On clinical examination, the three asymptomatic MutC also showed subtle signs of focal or segmental dystonia. TCS revealed increased substantia nigra (SN) hyperechogenicity in all MutC. Intraoperative microelectrode recordings under general anesthesia in two of the patients showed no difference between <jats:italic>THAP1<\/jats:italic> and previously operated <jats:italic>DYT1<\/jats:italic> MutC. The presence of spasmodic dysphonia in patients with young\u2010onset segmental or generalised dystonia is a hallmark of <jats:italic>DYT6<\/jats:italic> dystonia. SN hyperechogenicity on TCS may represent an endophenotype in these patients. Pallidal DBS in two patients was unsatisfactory. \u00a9 2010 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.23279","type":"journal-article","created":{"date-parts":[[2010,8,5]],"date-time":"2010-08-05T08:36:21Z","timestamp":1280997381000},"page":"2405-2412","source":"Crossref","is-referenced-by-count":35,"title":["Clinical neuroimaging and electrophysiological assessment of three <i>DYT6<\/i> dystonia families"],"prefix":"10.1002","volume":"25","author":[{"given":"Simone","family":"Zittel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian K.E.","family":"Moll","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norbert","family":"Br\u00fcggemann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vera","family":"Tadic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"Hamel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meike","family":"Kasten","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja","family":"Lohmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thora","family":"Lohnau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susen","family":"Winkler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Gerloff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rainer","family":"Sch\u00f6nweiler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johann","family":"Hagenah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Klein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"M\u00fcnchau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne A.","family":"Schneider","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":"crossref","unstructured":"M\u00fcllerU.The monogenic primary dystonias.2009;132:2005\u20132025.","DOI":"10.1093\/brain\/awp172"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31887"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.304"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(09)70081-X"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(09)70083-3"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22849"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22861"},{"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":"10.1212\/WNL.0b013e3181d5276d"},{"issue":"8","key":"e_1_2_7_12_2","article-title":"Clinical and molecular characterisation of THAP1 (DYT6) mutations. 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