{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T11:35:23Z","timestamp":1775302523131,"version":"3.50.1"},"reference-count":24,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2004,4,22]],"date-time":"2004-04-22T00:00:00Z","timestamp":1082592000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"National Parkinson's Disease Foundation"},{"DOI":"10.13039\/100001288","name":"Parkinson's Disease Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100001288","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["NS36630"],"award-info":[{"award-number":["NS36630"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["RR00645"],"award-info":[{"award-number":["RR00645"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["NS39422"],"award-info":[{"award-number":["NS39422"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["PO1AG07232"],"award-info":[{"award-number":["PO1AG07232"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2004,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The frequency and relative contribution of DJ\u20101 mutations in early\u2010onset Parkinson's disease (EOPD) is currently unknown. We analyzed a cohort of 89 EOPD patients (mean age at onset of PD \u00b1 SD, 41.5 \u00b1 7.2 years), ascertained independent of family history, who participated in a study of the genetic epidemiology of PD. This study includes sequence analysis of the DJ\u20101 gene in addition to assaying the 14,082\u2010bp deletion spanning exons 1 to 5, previously identified in a Dutch kindred, in 89 EOPD cases. A heterozygous missense mutation in exon 5 (A104T) was identified in an EOPD case of Asian ethnicity; this sequence variant was absent in 308 control chromosomes. We identified additional sequence variation in the DJ\u20101 gene, including a polymorphism in the coding region in exon 5 (R98Q), three polymorphisms in the 5\u2032 untranslated region (exon 1A\/1B), and two polymorphisms in intronic regions (IVS1 and IVS5). Mutations in the DJ\u20101 gene are rare in EOPD in both sporadic and familial cases. \u00a9 2004 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.20131","type":"journal-article","created":{"date-parts":[[2004,4,22]],"date-time":"2004-04-22T18:00:54Z","timestamp":1082656854000},"page":"796-800","source":"Crossref","is-referenced-by-count":63,"title":["Analysis of an early\u2010onset Parkinson's disease cohort for DJ\u20101 mutations"],"prefix":"10.1002","volume":"19","author":[{"given":"Lorraine N.","family":"Clark","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shehla","family":"Afridi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helen","family":"Mejia\u2010Santana","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juliette","family":"Harris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elan D.","family":"Louis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucien 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