{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T07:06:53Z","timestamp":1791011213240,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":3629,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1994,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A gene (DYT1) for idiopathic torsion dystonia maps to chromosome 9q34 in Ashkenazi Jewish families with early onset of symptoms. Further, there is linkage disequilibrium between DYT1 and a particular haplotype of alleles at 9q34 loci in this population. This implies that a large proportion of early\u2010onset idiopathic torsion dystonia in Ashkenazi Jews is due to a founder mutation in DYT1. To characterize the phenotypic range of this mutation, we studied 174 Ashkenazi Jewish individuals affected with idiopathic torsion dystonia. We used GT(n) markers on chromosome 9q34 (D9S62, D9S63, and ASS) and classified individuals as having (\u201ccarriers\u201d), not having (\u201cnoncarriers\u201d), or being ambiguous with respect to a DYT1\u2010associated haplotype. We assessed clinical features and found marked clinical differences between haplotype carriers and noncarriers. There were 90 carriers, 70 noncarriers, and 14 ambiguous individuals. The mean age at onset of symptoms was significantly lower in carriers than in noncarriers (12.5 \u00b1 8.2 vs 36.5 \u00b1 16.4 years). In 94% of carriers, symptoms began in a limb (arm or leg equally); rarely the disorder started in the neck (3.3%) or larynx (2.2%). In contrast, the neck, larynx, and other cranial muscles were the sites of onset in 79% of noncarriers; onset in the arms occurred in 21% and onset in the legs never occurred. Limb onset, leg involvement in the course of disease, and age at onset distinguished haplotype carriers from noncarriers with 90% accuracy. In conclusion, there are clinical differences between Ashkenazi Jewish individuals with idiopathic torsion dystonia who do or do not have a unique DYT1 mutation, as determined by a DYT1\u2010associated haplotype of 9q34 alleles. These differences suggest that early, limb\u2010onset idiopathic torsion dystonia and late, cervical cranial\u2013onset idiopathic torsion dystonia are genetically distinct entities.<\/jats:p>","DOI":"10.1002\/ana.410360514","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T16:07:18Z","timestamp":1104595638000},"page":"771-777","source":"Crossref","is-referenced-by-count":141,"title":["Dystonia in Ashkenazi Jews: Clinical characterization of a founder mutation"],"prefix":"10.1002","volume":"36","author":[{"given":"Susan B.","family":"Bressman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"de Leon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia L.","family":"Kramer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurie J.","family":"Ozelius","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitchell F.","family":"Brin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul E.","family":"Greene","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanley","family":"Fahn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xandra O.","family":"Breakefield","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neil J.","family":"Risch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"332","volume-title":"Movement disorders 2","author":"Fahn S","year":"1987"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.50.5_Suppl_5.S1"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/97.1.793"},{"key":"e_1_2_1_5_2","first-page":"177","article-title":"Natural history of idiopathic torsion dystonia","volume":"14","author":"Marsden CD","year":"1976","journal-title":"Adv Neurol"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0733-8619(18)31090-9"},{"key":"e_1_2_1_7_2","unstructured":"GreeneP KangUJ FahnS: Spread of symptoms in idiopathic torsion dystonia.Mov Disord(in press)"},{"key":"e_1_2_1_8_2","first-page":"45","article-title":"The pattern of inheritance of dystonia among Ashkenazi Jews","volume":"50","author":"Bressman SB","year":"1988","journal-title":"Adv Neurol"},{"key":"e_1_2_1_9_2","first-page":"77","article-title":"Dystonia musculorum deformans. 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