{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T07:08:02Z","timestamp":1791961682395,"version":"4.3.4"},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2006,11,28]],"date-time":"2006-11-28T00:00:00Z","timestamp":1164672000000},"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":[[2007,1,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Primary blepharospasm is a common adult\u2010onset focal dystonia. Polymorphisms of the genes encoding TorsinA (<jats:italic>DYT1<\/jats:italic>) and the D5 dopamine receptor (<jats:italic>DRD5<\/jats:italic>) have previously been associated with lifetime risk for focal dystonia. We describe here experiments testing common variability within these two genes in two independent cohorts of Italian and North American patients with primary blepharospasm. We have failed to identify a consistent association with disease in the two patient groups examined here; however, analysis of the Italian group reveals an association with the same risk genotype in <jats:italic>DYT1<\/jats:italic> as previously described in an Icelandic population. We have also found global significant <jats:italic>DYT1<\/jats:italic> haplotype differences between patients and controls in the Italian series. These data suggest that further examination is warranted of the role genetic variability at this locus plays in the risk for primary dystonia. \u00a9 2006 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.21182","type":"journal-article","created":{"date-parts":[[2006,11,28]],"date-time":"2006-11-28T16:21:45Z","timestamp":1164730905000},"page":"162-166","source":"Crossref","is-referenced-by-count":43,"title":["Assessing the role of <i>DRD5<\/i> and <i>DYT1<\/i> in two different case\u2013control series with primary blepharospasm"],"prefix":"10.1002","volume":"22","author":[{"given":"Jordi","family":"Clarimon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Brancati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Peckham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enza Maria","family":"Valente","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Abruzzese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Girlanda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Defazio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfredo","family":"Berardelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Hallett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew B.","family":"Singleton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,11,28]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2005.068007"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.10314"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awf090"},{"key":"e_1_2_6_5_2","first-page":"849","article-title":"Dystonia: phenotypes and genotypes","volume":"159","author":"Bressman SB","year":"2003","journal-title":"Rev Neurol (Paris)"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0997-40"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.7.1133"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/121.12.2335"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20485"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000203344.43342.18"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000090560.20641.AB"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.1.124"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.74.5.665"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.71.2.262"},{"key":"e_1_2_6_15_2","series-title":"Dystonia 3","first-page":"1","author":"Fahn S","year":"1998"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1999.6039"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.10252"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1086\/379378"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.21182","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.21182","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T12:36:04Z","timestamp":1760963764000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.21182"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,11,28]]},"references-count":17,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2007,1,15]]}},"alternative-id":["10.1002\/mds.21182"],"URL":"https:\/\/doi.org\/10.1002\/mds.21182","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,11,28]]}}}