{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T05:20:31Z","timestamp":1761196831502,"version":"build-2065373602"},"reference-count":35,"publisher":"Wiley","issue":"14","license":[{"start":{"date-parts":[[2007,8,13]],"date-time":"2007-08-13T00:00:00Z","timestamp":1186963200000},"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":[[2007,10,31]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The objective of this study was to report clinical details and results of genetic testing for mutations in the <jats:italic>\u03b5\u2010sarcoglycan<\/jats:italic> (<jats:italic>SGCE<\/jats:italic>) gene, the <jats:italic>Slit and Trk\u2010like 1<\/jats:italic> (<jats:italic>SLITRK1<\/jats:italic>) gene and for linkage to the <jats:italic>DYT15, DYT1,<\/jats:italic> and <jats:italic>DRD2<\/jats:italic> gene loci in a family with autosomal dominant myoclonus\u2010dystonia (M\u2010D) and Gilles de la Tourette syndrome (GTS). Fourteen family members, from three generations, underwent a detailed clinical assessment and donated DNA samples. The <jats:italic>SGCE<\/jats:italic> and the <jats:italic>SLITRK1<\/jats:italic> gene were sequenced and investigated by gene dosage analysis in selected family members. Linkage to the <jats:italic>SGCE, DYT15<\/jats:italic>, <jats:italic>DYT1<\/jats:italic>, <jats:italic>DRD2,<\/jats:italic> and <jats:italic>SLITRK1<\/jats:italic> loci was also tested. <jats:italic>Results:<\/jats:italic> We included three healthy and 11 affected family members with M\u2010D (n = 3), dystonia alone (n = 2), GTS (n = 1), tics (n = 1) or a combination of these with obsessive compulsive disorder (OCD) (M\u2010D + OCD: n = 2; dystonia+OCD: n = 1; M\u2010D + GTS + OCD: n = 1). There was no linkage to the <jats:italic>SGCE, DYT15<\/jats:italic>, <jats:italic>DYT1<\/jats:italic> or <jats:italic>DRD2<\/jats:italic> loci. No changes were found in the <jats:italic>SLITRK1<\/jats:italic> gene. The presence of both M\u2010D and GTS in one family, in which all known M\u2010D loci and a recently discovered GTS locus were excluded, suggests a novel susceptibility gene for both M\u2010D and GTS. \u00a9 2007 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.21674","type":"journal-article","created":{"date-parts":[[2007,8,13]],"date-time":"2007-08-13T19:46:44Z","timestamp":1187034404000},"page":"2090-2096","source":"Crossref","is-referenced-by-count":17,"title":["Autosomal dominant myoclonus\u2010dystonia and Tourette syndrome in a family without linkage to the <i>SGCE<\/i> gene"],"prefix":"10.1002","volume":"22","author":[{"given":"Michael","family":"Orth","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Djarmati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tobias","family":"B\u00e4umer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan","family":"Winkler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Gr\u00fcnewald","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katja","family":"Lohmann\u2010Hedrich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kemal","family":"Kabakci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johann","family":"Hagenah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Klein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander","family":"M\u00fcnchau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,8,13]]},"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.56.9.1213"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/B978-012566652-7\/50042-3"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra010032"},{"key":"e_1_2_7_6_2","first-page":"385","article-title":"Myoclonus 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