{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T16:15:31Z","timestamp":1777565731321,"version":"3.51.4"},"reference-count":24,"publisher":"S. Karger AG","issue":"1-2","license":[{"start":{"date-parts":[[2014,10,15]],"date-time":"2014-10-15T00:00:00Z","timestamp":1413331200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2014,10,15]],"date-time":"2014-10-15T00:00:00Z","timestamp":1413331200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dement Geriatr Cogn Disord"],"published-print":{"date-parts":[[2015]]},"abstract":"<b><i>Background:<\/i><\/b> Alzheimer's disease (AD) and frontotemporal dementia (FTD) are two common forms of primary neurodegenerative dementia. Mutations in 3 genes <i>(PSEN1, PSEN2,<\/i> and <i>APP)<\/i> have been identified in patients with early-onset AD. <b><i>Methods:<\/i><\/b> We performed gene sequencing in <i>PSEN1, PSEN2,<\/i> and <i>APP<\/i> in 61 AD and 35 FTD Chinese patients. Amyloid load using <sup>11<\/sup>C-labeled Pittsburgh compound B (<sup>11<\/sup>C-PIB) positron emission tomography (PET) and cerebral glucose metabolism using <sup>18<\/sup>F-fludeoxyglucose PET were evaluated in patients carrying mutations. <b><i>Results:<\/i><\/b> We identified 1 known pathogenic<i> PSEN1<\/i> (p.His163Arg, c.488A>G) mutation and 3 novel <i>PSEN2<\/i> mutations in 6 patients. The novel mutation <i>PSEN2<\/i> (p.His169Asn, c.505C>A) was identified in 1 patient with familial late-onset AD and in 1 sporadic FTD patient. The <i>PSEN2<\/i> (p.Val214Leu, c.640G>T; p.Lys82Arg, c.245A>G) mutations were identified in 2 early-onset AD patients and 1 early-onset AD patient, respectively. Three patients with <i>PSEN2<\/i> mutations were observed to have PIB retention on the cortex and striatum. One patient with the FTD phenotype was not observed to have PIB retention. <b><i>Conclusion:<\/i><\/b><i> PSEN2<\/i> mutations are common in the Chinese Han population with a history of AD and FTD. Pathogenic mutations or risk variants in the <i>PSEN2<\/i> gene can influence both FTD and AD phenotypic traits and show variations in neuroimaging characterization. \u00a9 2014 S. Karger AG, Basel<\/jats:p>","DOI":"10.1159\/000366272","type":"journal-article","created":{"date-parts":[[2014,10,15]],"date-time":"2014-10-15T06:59:59Z","timestamp":1413356399000},"page":"32-40","source":"Crossref","is-referenced-by-count":31,"title":["Clinical and Neuroimaging Characterization of Chinese Dementia Patients with <b><i>PSEN1<\/i><\/b> and <b><i>PSEN2<\/i><\/b> Mutations"],"prefix":"10.1159","volume":"39","author":[{"given":"Zhihong","family":"Shi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuai","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mengyuan","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuling","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuying","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinhuan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Cai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ya Ruth","family":"Huo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuo","family":"Gao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yong","family":"Ji","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2014,10,15]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.60.8.1119"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jalz.2009.03.001"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1126\/science.1072994"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/349704a0"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/375754a0"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/376775a0"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1126\/science.7638622"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0031039"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.3233\/JAD-2010-101011"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1159\/000350872"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1177\/1533317506290448"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.2165\/11533100-000000000-00000"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(05)70223-4"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2010.212225"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.34.7.939"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.51.6.1546"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1159\/000094972"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1159\/000017074"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1159\/000141483"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq033"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10760"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.3233\/JAD-2009-0986"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20009"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0730-07.2007"}],"container-title":["Dementia and Geriatric Cognitive Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/366272","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/366272","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:36:55Z","timestamp":1745429815000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000366272"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,10,15]]},"references-count":24,"journal-issue":{"issue":"1-2","published-online":{"date-parts":[[2015,1,1]]},"published-print":{"date-parts":[[2015,1,27]]}},"URL":"https:\/\/doi.org\/10.1159\/000366272","archive":["Portico"],"relation":{},"ISSN":["1420-8008","1421-9824"],"issn-type":[{"value":"1420-8008","type":"print"},{"value":"1421-9824","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,10,15]]}}}