{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T05:22:44Z","timestamp":1761196964289,"version":"build-2065373602"},"reference-count":12,"publisher":"Wiley","issue":"16","license":[{"start":{"date-parts":[[2009,11,11]],"date-time":"2009-11-11T00:00:00Z","timestamp":1257897600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Italian Ministry of Health"},{"name":"Fondazione Livio Patrizi and Transgenomics"},{"name":"Bank for the diagnosis and research of Movement Disorders"},{"name":"EuroBioBank network"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2009,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the <jats:italic>THAP1<\/jats:italic> gene on chromosome 8p21\u2010p22 (DYT6 locus) have been recently reported as causative of autosomal dominant primary torsion dystonia (PTD) in four Amish\u2013Mennonite families and in 12 additional probands of different ancestry. We sequenced the <jats:italic>THAP1<\/jats:italic> gene in 158 patients with <jats:italic>DYT1<\/jats:italic>\u2010negative PTD who had onset of symptoms below 30 years and\/or positive family history. One sporadic Greek male patient, aged 57 years, was found to carry a novel heterozygous missense variant in <jats:italic>THAP1<\/jats:italic> exon 3 (p.Cys170Arg), of likely pathogenic significance. This subject first presented with right writer's cramp at age of 10 years and, subsequently, developed left arm dystonia and an extremely severe left laterocollis, without further spreading to other body districts. Our findings expand the genotypic spectrum of <jats:italic>THAP1<\/jats:italic> and strengthen the association with upper body involvement, including the cranial and cervical districts that are usually spared in DYT1\u2010PTD. \u00a9 2009 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.22861","type":"journal-article","created":{"date-parts":[[2009,11,11]],"date-time":"2009-11-11T17:31:49Z","timestamp":1257960709000},"page":"2424-2427","source":"Crossref","is-referenced-by-count":30,"title":["Mutation screening of the DYT6\/<i>THAP1<\/i> gene in Italy"],"prefix":"10.1002","volume":"24","author":[{"given":"Monica","family":"Bonetti","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Barzaghi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Brancati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Ferraris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emanuele","family":"Bellacchio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Giovanetti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamara","family":"Ialongo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanna","family":"Zorzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carla","family":"Piano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martina","family":"Petracca","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Albanese","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nardo","family":"Nardocci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna Rita","family":"Bentivoglio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Garavaglia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enza Maria","family":"Valente","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,12,18]]},"reference":[{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp172"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0997-40"},{"key":"e_1_2_8_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/121.12.2335"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.54.9.1746"},{"key":"e_1_2_8_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.304"},{"key":"e_1_2_8_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(09)70081-X"},{"key":"e_1_2_8_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(09)70083-3"},{"key":"e_1_2_8_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22597"},{"key":"e_1_2_8_10_2","doi-asserted-by":"publisher","DOI":"10.1006\/jmbi.1993.1626"},{"key":"e_1_2_8_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature04209"},{"key":"e_1_2_8_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21000"},{"key":"e_1_2_8_13_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M707537200"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.22861","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.22861","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.22861","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T11:23:05Z","timestamp":1760959385000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.22861"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,12,15]]},"references-count":12,"journal-issue":{"issue":"16","published-print":{"date-parts":[[2009,12,15]]}},"alternative-id":["10.1002\/mds.22861"],"URL":"https:\/\/doi.org\/10.1002\/mds.22861","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"type":"print","value":"0885-3185"},{"type":"electronic","value":"1531-8257"}],"subject":[],"published":{"date-parts":[[2009,12,15]]}}}