{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,11]],"date-time":"2026-08-11T19:31:17Z","timestamp":1786476677986,"version":"build-2736575974"},"reference-count":16,"publisher":"Wiley","issue":"14","license":[{"start":{"date-parts":[[2008,9,29]],"date-time":"2008-09-29T00:00:00Z","timestamp":1222646400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2008,9,29]],"date-time":"2008-09-29T00:00:00Z","timestamp":1222646400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"name":"NWO VIDI","award":["project 016.056.333"],"award-info":[{"award-number":["project 016.056.333"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2008,10,30]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>We describe a large family with a primary focal dystonia from a small Dutch village on a former island. Twenty\u2010four individuals spanning three generations were examined by two movement\u2010disorder neurologists. Two other movement\u2010disorder neurologists evaluated the videos independently. Subjects were classified as \u201caffected,\u201d \u201cpossibly affected,\u201d or \u201cnot affected.\u201d A diagnosis was defined if all the neurologists agreed on the definition. Eight definitely affected and four possibly affected subjects were detected. Clinical presentation consisted of mild cranio\u2010cervical\u2010brachial dystonia. Mean age at onset was 45.5 years (range, 39\u201356). Mean BFMDRS motor score was 4.4 (range, 1\u20138). Mean TWSTRS score (part I) was 11.3 (range, 8\u201323). Mutations in DYT1 gene and in the \u03b5\u2010sarcoglycan (SGCE) genes were not detected. We could not find linkage to the dominant DYT6, DYT7, DYT13, or the recessive DYT16 loci. The identification and accurate clinical evaluation of large dystonia families not linked to known genes is crucial for further advancement in molecular genetic characterization of focal dystonia. \u00a9 2008 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.22206","type":"journal-article","created":{"date-parts":[[2008,9,29]],"date-time":"2008-09-29T16:53:12Z","timestamp":1222707192000},"page":"1998-2003","source":"Crossref","is-referenced-by-count":6,"title":["Clinical and genetic characterization of a large Dutch family with primary focal dystonia"],"prefix":"10.1002","volume":"23","author":[{"given":"Maria Fiorella","family":"Contarino","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elles","family":"Berger\u2010Plantinga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth M.J.","family":"Foncke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja","family":"Ritz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonke","family":"Mellema","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Baas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes D.","family":"Speelman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina A.J.","family":"Tijssen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,9,29]]},"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":"10.1016\/S1474-4422(04)00907-X"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870120625"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31887"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410400421"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870080413"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8257(199909)14:5<820::AID-MDS1015>3.0.CO;2-I"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.10077"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8257(200009)15:5<954::AID-MDS1028>3.0.CO;2-I"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21056"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(08)70022-X"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1086\/302143"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410420421"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.73"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.10634"},{"key":"e_1_2_7_17_2","first-page":"73","article-title":"Hereditary torsion dystonia in gypsies","volume":"50","author":"Gimenez\u2010Roldan S","year":"1988","journal-title":"Adv Neurol"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.22206","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.22206","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.22206","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mds.22206","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.22206","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,11]],"date-time":"2026-08-11T19:08:24Z","timestamp":1786475304000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.22206"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,9,29]]},"references-count":16,"journal-issue":{"issue":"14","published-print":{"date-parts":[[2008,10,30]]}},"alternative-id":["10.1002\/mds.22206"],"URL":"https:\/\/doi.org\/10.1002\/mds.22206","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,9,29]]}}}