{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T08:10:07Z","timestamp":1790064607217,"version":"4.0.1"},"reference-count":11,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,12,19]],"date-time":"2006-12-19T00:00:00Z","timestamp":1166486400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2007,5]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Age of onset for Huntington's disease (HD) varies inversely with the length of the disease\u2010causing CAG repeat expansion in the <jats:italic>HD<\/jats:italic> gene. A simple exponential regression model yielded adjusted R\u2010squared values of 0.728 in a large set of Venezuelan kindreds and 0.642 in a North American, European, and Australian sample (the HD MAPS cohort). We present evidence that a two\u2010segment exponential regression curve provides a significantly better fit than the simple exponential regression. A plot of natural log\u2010transformed age of onset against CAG repeat length reveals this segmental relationship. This two\u2010segment exponential regression on age of onset data increases the adjusted R\u2010squared values by 0.012 in the Venezuelan kindreds and by 0.035 in the HD MAPS cohort. Although the amount of additional variance explained by the segmental regression approach is modest, the two slopes of the two\u2010segment regression are significantly different from each other in both the Venezuelan kindreds [F(2, 439) = 11.13, <jats:italic>P<\/jats:italic>= 2 \u00d7 10<jats:sup>\u22125<\/jats:sup>] and in the HD MAPS cohort [F(2, 688) = 38.27, <jats:italic>P<\/jats:italic>= 2 \u00d7 10<jats:sup>\u221216<\/jats:sup>]. In both populations, the influence of each CAG repeat on age of onset appears to be stronger in the adult\u2010onset range of CAG repeats than in the juvenile\u2010onset range.<\/jats:p>","DOI":"10.1111\/j.1469-1809.2006.00335.x","type":"journal-article","created":{"date-parts":[[2006,12,20]],"date-time":"2006-12-20T12:33:22Z","timestamp":1166618002000},"page":"295-301","source":"Crossref","is-referenced-by-count":111,"title":["The Relationship Between CAG Repeat Length and Age of Onset Differs for Huntington's Disease Patients with Juvenile Onset or Adult Onset"],"prefix":"10.1111","volume":"71","author":[{"given":"J. Michael","family":"Andresen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javier","family":"Gay\u00e1n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luc","family":"Djouss\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Roberts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise","family":"Brocklebank","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stacey S.","family":"Cherny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"The US\u2010Venezuela Collaborative Research Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"The HD MAPS Collaborative Research Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lon R.","family":"Cardon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Gusella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcy E.","family":"MacDonald","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard H.","family":"Myers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David E.","family":"Housman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy S.","family":"Wexler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,12,19]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981012)79:5<383::AID-AJMG10>3.0.CO;2-N"},{"key":"e_1_2_6_3_1","volume-title":"Huntington's Disease","author":"Bates G.","year":"2002"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20190"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/1043-4682(95)90011-X"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90585-E"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.49.6.1605"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00241.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/378133"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000094123.09098.A0"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410430306"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0308679101"}],"container-title":["Annals of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1469-1809.2006.00335.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1469-1809.2006.00335.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T14:17:02Z","timestamp":1698761822000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1469-1809.2006.00335.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,12,19]]},"references-count":11,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2007,5]]}},"alternative-id":["10.1111\/j.1469-1809.2006.00335.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1469-1809.2006.00335.x","archive":["Portico"],"relation":{},"ISSN":["0003-4800","1469-1809"],"issn-type":[{"value":"0003-4800","type":"print"},{"value":"1469-1809","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,12,19]]}}}