{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,18]],"date-time":"2026-07-18T17:34:59Z","timestamp":1784396099719,"version":"3.55.0"},"reference-count":12,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2021,9,18]],"date-time":"2021-09-18T00:00:00Z","timestamp":1631923200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","award":["TL1TR001875"],"award-info":[{"award-number":["TL1TR001875"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R01NS073671"],"award-info":[{"award-number":["R01NS073671"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Age of manifest Huntington's disease (HD) onset correlates with number of CAG repeats in the huntingtin gene. Little is known about onset with 36 to 39 repeats, the \u201creduced penetrance\u201d (RP) range.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>We provide allele\u2010specific estimates of HD penetrance (diagnostic confidence level of 4) for RP allele carriers.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We analyzed 431 pre\u2010manifest RP allele carriers from Enroll\u2010HD, the largest prospective observational HD study. Cumulative penetrance (CP) was estimated from Kaplan\u2013Meier curves.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>No one with 36 repeats (n\u00a0=\u00a025) phenoconverted. CP for 38 repeats (n\u00a0=\u00a0120) was 32% (95% confidence interval [CI] 0%\u201355%) and 51% (CI, 10%\u201373%) by ages 70 and 75, respectively, and 68% (CI, 46%\u201381%) and 81% (CI, 58%\u201392%) by ages 70 and 75 for 39 repeats (n\u00a0=\u00a0253). CP was not estimable at those ages for 37 repeats (n\u00a0=\u00a033).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Differences by RP\u2010range repeat length did not reach significance with a 3\u2010year median follow\u2010up duration among censored individuals. \u00a9 2021 International Parkinson and Movement Disorder Society<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.28789","type":"journal-article","created":{"date-parts":[[2021,9,18]],"date-time":"2021-09-18T08:23:15Z","timestamp":1631953395000},"page":"2958-2961","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Age of Onset of Huntington's Disease in Carriers of Reduced Penetrance Alleles"],"prefix":"10.1002","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7506-3124","authenticated-orcid":false,"given":"Erin I.","family":"McDonnell","sequence":"first","affiliation":[{"name":"Department of Biostatistics, Mailman School of Public Health Columbia University  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanjia","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, Mailman School of Public Health Columbia University  New York New York USA"},{"name":"Department of Psychiatry Columbia University Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill","family":"Goldman","sequence":"additional","affiliation":[{"name":"The Taub Institute for Alzheimer's Disease and the Aging Brain Columbia University Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Marder","sequence":"additional","affiliation":[{"name":"Department of Psychiatry Columbia University Medical Center  New York New York USA"},{"name":"The Taub Institute for Alzheimer's Disease and the Aging Brain Columbia University Medical Center  New York New York USA"},{"name":"Gertrude H. Sergievsky Center Columbia University Medical Center  New York New York USA"},{"name":"Department of Neurology Columbia University Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,9,18]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30992"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1155\/2012\/375935"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/301846"},{"issue":"5","key":"e_1_2_9_5_1","first-page":"1202","article-title":"The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size","volume":"60","author":"Brinkman RR","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00241.x"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.045120"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870110204"},{"issue":"1","key":"e_1_2_9_9_1","first-page":"16","article-title":"Phenotypic characterization of individuals with 30\u201040 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36\u201039 repeats","volume":"59","author":"Rubinsztein DC","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.04.007"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-0917-z"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2019.00453"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002858"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.28789","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mds.28789","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.28789","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T14:04:07Z","timestamp":1760969047000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.28789"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,18]]},"references-count":12,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["10.1002\/mds.28789"],"URL":"https:\/\/doi.org\/10.1002\/mds.28789","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,9,18]]},"assertion":[{"value":"2021-05-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-08-23","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-09-18","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}