{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T12:57:38Z","timestamp":1777381058177,"version":"3.51.4"},"reference-count":15,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2014,1,24]],"date-time":"2014-01-24T00:00:00Z","timestamp":1390521600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Am J Alzheimers Dis Other Demen"],"published-print":{"date-parts":[[2014,8]]},"abstract":"<jats:p>\n                    Familial Alzheimer\u2019s disease (AD) is a rare disorder involving known autosomal dominant mutations in the amyloid precursor protein and presenilin (PSEN) 1 and 2. Here, we present a case of early-onset AD with prominent frontal features associated with a novel deletion of codon 40 in the PSEN1 gene. Serial brain magnetic resonance imaging and\n                    <jats:sup>18<\/jats:sup>\n                    F florbetapir imaging show prominent involvement of the frontal lobes, corresponding with the clinical presentation. This case report illustrates a possible link between a novel PSEN1 mutation and frontal variant AD.\n                  <\/jats:p>","DOI":"10.1177\/1533317513518653","type":"journal-article","created":{"date-parts":[[2014,1,25]],"date-time":"2014-01-25T20:24:34Z","timestamp":1390681474000},"page":"433-435","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":17,"title":["A Novel Presenilin 1 Mutation in Early-Onset Alzheimer\u2019s Disease With Prominent Frontal Features"],"prefix":"10.1177","volume":"29","author":[{"given":"Haakon B.","family":"Nygaard","sequence":"first","affiliation":[{"name":"Department of Neurology, Yale University School of Medicine, New Haven, CT, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carol F.","family":"Lippa","sequence":"additional","affiliation":[{"name":"Department of Neurology, Drexel University, Philadelphia, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Djekidel","family":"Mehdi","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Radiology, Yale University School of Medicine, New Haven, CT, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joachim M.","family":"Baehring","sequence":"additional","affiliation":[{"name":"Department of Neurology, Yale University School of Medicine, New Haven, CT, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2014,1,24]]},"reference":[{"key":"bibr1-1533317513518653","doi-asserted-by":"publisher","DOI":"10.1016\/j.ncl.2007.03.009"},{"key":"bibr2-1533317513518653","author":"Prince M","year":"2009","journal-title":"World Alzheimer Report"},{"key":"bibr3-1533317513518653","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22117"},{"key":"bibr4-1533317513518653","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2009.218"},{"key":"bibr5-1533317513518653","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-005-0019-5"},{"key":"bibr6-1533317513518653","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.11.1621"},{"key":"bibr7-1533317513518653","doi-asserted-by":"publisher","DOI":"10.1111\/j.1532-5415.1989.tb02233.x"},{"key":"bibr8-1533317513518653","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.56.10.1233"},{"key":"bibr9-1533317513518653","doi-asserted-by":"publisher","DOI":"10.1016\/j.jalz.2011.03.005"},{"key":"bibr10-1533317513518653","doi-asserted-by":"publisher","DOI":"10.3233\/JAD-2012-120172"},{"key":"bibr11-1533317513518653","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.55.3.326"},{"key":"bibr12-1533317513518653","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0046688"},{"key":"bibr13-1533317513518653","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2202-8-72"},{"key":"bibr14-1533317513518653","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.57.4.621"},{"key":"bibr15-1533317513518653","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2008.06.012"}],"container-title":["American Journal of Alzheimer's Disease &amp; Other Dementias\u00ae"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1533317513518653","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/1533317513518653","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1533317513518653","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T09:19:52Z","timestamp":1777367992000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/1533317513518653"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,1,24]]},"references-count":15,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2014,8]]}},"alternative-id":["10.1177\/1533317513518653"],"URL":"https:\/\/doi.org\/10.1177\/1533317513518653","relation":{},"ISSN":["1533-3175","1938-2731"],"issn-type":[{"value":"1533-3175","type":"print"},{"value":"1938-2731","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,1,24]]}}}