{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,30]],"date-time":"2025-08-30T16:33:43Z","timestamp":1756571623239,"version":"3.40.4"},"reference-count":17,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2008,1,1]],"date-time":"2008-01-01T00:00:00Z","timestamp":1199145600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2008,1,1]],"date-time":"2008-01-01T00:00:00Z","timestamp":1199145600000},"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":[[2008]]},"abstract":"<i>Background:<\/i> To date, 81 mutations of ATP-binding cassette transporter 1 (<i>ABCA1)<\/i> have been reported. However, no <i>ABCA1<\/i> mutation has been reported in the Chinese population. <i>Methods:<\/i> We used direct sequencing to screen for <i>ABCA1<\/i> mutations in 72 patients with both atherosclerotic cerebral infarction (ACI) and plasma high-density lipoprotein cholesterol (HDL-C) < 0.8 mmol\/l. The functionality of the mutation was verified using 200 unrelated controls and 76 patients with ACI and normal HDL-C by PCR-RFLP analysis. <i>Results:<\/i> One patient with dementia prior to ACI was found to carry the heterozygous Y2206D mutation, which has not been reported previously. The patient had a medical history of atherosclerosis in the coronary and carotid arteries going back 40 years and splenohepatomegalia for 13 years, with a low plasma HDL-C level (0.66 mmol\/l) and apolipoprotein A1 level (0.61 mmol\/l). During the past decade, he had developed symptoms of dementia. Sixteen months prior to the study, he was admitted to hospital for an ACI. <i>Conclusion:<\/i> The results suggest that this patient is most likely a patient with familial hypoalphalipoproteinemia and that the Y2206D mutation may be associated with not only a lower level of HDL-C, but also with dementia.<\/jats:p>","DOI":"10.1159\/000160954","type":"journal-article","created":{"date-parts":[[2008,10,11]],"date-time":"2008-10-11T20:33:17Z","timestamp":1223757197000},"page":"234-238","source":"Crossref","is-referenced-by-count":2,"title":["Novel Mutation in the <i>ABCA1<\/i> Gene Identified in a Chinese Patient with Dementia and Atherothrombotic Cerebral Infarction"],"prefix":"10.1159","volume":"26","author":[{"given":"Xie-Hua","family":"Xue","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ning","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gui-Xian","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ling","family":"Fang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shenxing","family":"Murong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhi-Ying","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2008,10,8]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038%2F11905"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038%2F11921"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038%2F11914"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1161%2F01.ATV.0000078520.89539.77"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1161%2F01.RES.0000237920.70451.ad"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007%2Fs100380200044"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1006%2Fbbrc.2001.6219"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1074%2Fjbc.M411420200"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1074%2Fjbc.M300760200"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1471-4159.2006.03925.x"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1074%2Fjbc.M407962200"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1074%2Fjbc.M508780200"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1002%2Fhumu.20012"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.neulet.2007.02.010"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.neurobiolaging.2006.04.005"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016%2FS0197-4580%2802%2900094-5"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.brainres.2007.02.005"}],"container-title":["Dementia and Geriatric Cognitive Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/160954","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/160954","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T00:49:34Z","timestamp":1745455774000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000160954"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008]]},"references-count":17,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2008,10,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000160954","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.5120494","asserted-by":"subject"}]},"ISSN":["1420-8008","1421-9824"],"issn-type":[{"type":"print","value":"1420-8008"},{"type":"electronic","value":"1421-9824"}],"subject":[],"published":{"date-parts":[[2008]]}}}