{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T10:31:33Z","timestamp":1761647493782},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2007,5,21]],"date-time":"2007-05-21T00:00:00Z","timestamp":1179705600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2007,6]]},"abstract":"<jats:p>Over 100 mutations in the presenilin\u20101 gene (<jats:italic>PSEN1<\/jats:italic>) have been shown to result in familial early onset Alzheimer disease (EOAD), but only a relatively few give rise to plaques with an appearance like cotton wool (CWP) and\/or spastic paraparesis (SP). A family with EOAD, seizures and CWP was investigated by neuropathological study and DNA sequencing of the <jats:italic>PSEN1<\/jats:italic> gene. A\u03b2 was identified in leptomeningeal vessels and in cerebral plaques. A single point mutation, p.L420R (g.1508T\u2003&gt;\u2003G) that gives rise to a missense mutation in the eighth transmembrane (TM8) domain of PS1 was identified in two affected members of the family. p.L420R (g.1508T\u2003&gt;\u2003G) is the mutation responsible for EOAD, seizures and CWP without SP in this family.<\/jats:p>","DOI":"10.1111\/j.1440-1789.2007.00766.x","type":"journal-article","created":{"date-parts":[[2007,5,21]],"date-time":"2007-05-21T09:20:41Z","timestamp":1179739241000},"page":"228-232","source":"Crossref","is-referenced-by-count":27,"title":["A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis"],"prefix":"10.1111","volume":"27","author":[{"given":"Antony E.","family":"Shrimpton","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert L.","family":"Schelper","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reinhold P.","family":"Linke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Hardy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Crook","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dennis W.","family":"Dickson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Ishizawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard L.","family":"Davis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,5,21]]},"reference":[{"issue":"2","key":"e_1_2_6_2_2","first-page":"S9","article-title":"Molecular genetics of Alzheimer\u2019s disease","volume":"52","author":"Goate AM","year":"1997","journal-title":"Geriatrics"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/375754a0"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/376775a0"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.7638622"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/nm0896-864"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/nm0498-452"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.10392"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/60.11.1051"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1021\/bi991080q"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/19077"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(03)00205-8"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/376775a0"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-005-0019-5"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)11:3<183::AID-HUMU1>3.0.CO;2-J"},{"key":"e_1_2_6_16_2","first-page":"231","article-title":"Molecular genetics of Alzheimer\u2019s disease: presenilin 1 gene analysis in a cohort of patients from the Poznan region","volume":"44","author":"Kowalska A","year":"2003","journal-title":"J Appl Genet"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.112686799"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.46.3.727"}],"container-title":["Neuropathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1440-1789.2007.00766.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1440-1789.2007.00766.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,14]],"date-time":"2023-10-14T07:41:00Z","timestamp":1697269260000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1440-1789.2007.00766.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,5,21]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2007,6]]}},"alternative-id":["10.1111\/j.1440-1789.2007.00766.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1440-1789.2007.00766.x","archive":["Portico"],"relation":{},"ISSN":["0919-6544","1440-1789"],"issn-type":[{"value":"0919-6544","type":"print"},{"value":"1440-1789","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,5,21]]}}}