{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T16:32:22Z","timestamp":1760977942113},"reference-count":11,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2002,6,25]],"date-time":"2002-06-25T00:00:00Z","timestamp":1024963200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int J Geriat Psychiatry"],"published-print":{"date-parts":[[2002,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Early\u2010onset familial Alzheimer's disease (EOFAD) is linked to mutations in three autosomal dominant genes: PS1, PS2 and APP. The clinical presentation and age of onset of mutations is variable.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>The aim of this report is to describe a novel PS1 mutation believed to be causal for a very early onset of AD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This is a case history using information from medical records, relative interviews and genetic testing results to describe the pre\u2010clinical prodrome and clinical course of a patient with EOFAD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A previously undescribed G206V mutation in PS1 was found in the proband.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The G206V mutation in PS1 is probably causal of a case of EOFAD with significant premorbid features. Copyright \u00a9 2002 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/gps.657","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T23:39:01Z","timestamp":1030318741000},"page":"649-651","source":"Crossref","is-referenced-by-count":20,"title":["Very early\u2010onset familial Alzheimer's disease: a novel presenilin 1 mutation"],"prefix":"10.1002","volume":"17","author":[{"given":"Jill S.","family":"Goldman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruce","family":"Reed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosalie","family":"Gearhart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joel H.","family":"Kramer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruce L.","family":"Miller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,6,27]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.3109\/07853899809002605"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/121.9.1631"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0033291700030373"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s000180050219"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199802193380804"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1099-1166(200002)15:2<120::AID-GPS84>3.0.CO;2-7"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.10.1577"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0733-8619(05)70232-2"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-3223(99)00301-7"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/00001756-199810050-00034"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.10.1590"}],"container-title":["International Journal of Geriatric Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fgps.657","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gps.657","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T13:49:48Z","timestamp":1700315388000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gps.657"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,6,27]]},"references-count":11,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2002,7]]}},"alternative-id":["10.1002\/gps.657"],"URL":"https:\/\/doi.org\/10.1002\/gps.657","archive":["Portico"],"relation":{},"ISSN":["0885-6230","1099-1166"],"issn-type":[{"value":"0885-6230","type":"print"},{"value":"1099-1166","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,6,27]]}}}