{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T12:10:24Z","timestamp":1763035824001,"version":"build-2065373602"},"reference-count":51,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2003,7,8]],"date-time":"2003-07-08T00:00:00Z","timestamp":1057622400000},"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":[[2003,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The identification of disease genes using family\u2010based approaches has provided important insights into the pathogenesis of Parkinson's disease (PD) demonstrating the importance of genetic studies on monogenic forms of the disease. We studied a large Cuban family with typical, late\u2010onset PD and probable autosomal dominant inheritance. Mean age at onset was 61.2 years (\u00b112.53, 45\u201376). Other phenotypes such as essential tremor and atypical parkinsonism were observed in this family. We carried out a genome\u2010wide scan and linkage analyses. The genetic data were analyzed using a conservative model in which only patients with clinically definite or likely PD were considered affected, other phenotypes were regarded as \u201cunknown.\u201d Multipoint analyses yielded a maximum LOD of 2.26 between markers D19S221 and D19S840. Haplotype analysis showed a region on chromosome 19 shared by six of seven PD patients. The essential tremor phenotype and the atypical parkinsonism do not segregate with this haplotype, suggesting a different etiology. Our findings suggest the presence of a novel locus for PD on chromosome 19p13.3\u2013q12. We propose that an oligogenic model with moderate contribution of two or three genes rather than a \u201cpure\u201d monogenic model might explain better the wide range in age at onset, the reduced penetrance and the phenotypical variability observed in PD families. \u00a9 2003 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.10534","type":"journal-article","created":{"date-parts":[[2003,11,20]],"date-time":"2003-11-20T13:19:27Z","timestamp":1069334367000},"page":"1240-1249","source":"Crossref","is-referenced-by-count":11,"title":["Suggestive linkage to chromosome 19 in a large Cuban family with late\u2010onset Parkinson's disease"],"prefix":"10.1002","volume":"18","author":[{"given":"Aida M.","family":"Bertoli\u2010Avella","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose L.","family":"Giroud\u2010Benitez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenzo","family":"Bonifati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eduardo","family":"Alvarez\u2010Gonzalez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis","family":"Heredero\u2010Baute","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cornelia M.","family":"Van Duijn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Heutink","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,7,8]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.62.1.10"},{"key":"e_1_2_6_3_2","first-page":"596","article-title":"Prevalencia de la enfermedad de Parkinson en un \u00e1rea urbana de la provincia Ciudad de La Habana, Cuba. 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