{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T07:47:34Z","timestamp":1790668054960,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,2,24]],"date-time":"2005-02-24T00:00:00Z","timestamp":1109203200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2005,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report early\u2010onset parkinsonism and dementia of 18 years' duration in a 52\u2010year\u2010old man whose grandfather and father had suffered from a similar neurological disease. In this patient, we found neuronal loss in various brain regions including the substantia nigra and cerebral cortex, Lewy bodies, cotton wool plaques, corticospinal tract degeneration, cerebral amyloid angiopathy, and a novel three\u2013base pair deletion in exon 12 of the presenilin\u20101 (PSEN1) gene. We considered that the mutant PSEN1 might play an important role in the pathogenetic process of both aggregation of \u03b1\u2010synuclein into Lewy bodies and deposition of \u03b2\u2010amyloid into cotton wool plaques. Ann Neurol 2005;57:429\u2013434<\/jats:p>","DOI":"10.1002\/ana.20393","type":"journal-article","created":{"date-parts":[[2005,2,24]],"date-time":"2005-02-24T17:29:19Z","timestamp":1109266159000},"page":"429-434","source":"Crossref","is-referenced-by-count":85,"title":["A mutant <i>PSEN1<\/i> causes dementia with lewy bodies and variant Alzheimer's disease"],"prefix":"10.1002","volume":"57","author":[{"given":"Atsushi","family":"Ishikawa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yue\u2010Shan","family":"Piao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akinori","family":"Miyashita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryozo","family":"Kuwano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osamu","family":"Onodera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroaki","family":"Ohtake","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masahiro","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masatoyo","family":"Nishizawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hitoshi","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,2,24]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/375754a0"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1095-219"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.7638622"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/376775a0"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/349704a0"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1097\/00001756-199704140-00043"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/nm0498-452"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.54.5.1103"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/60.5.483"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410420415"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004010050883"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410430612"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1090278"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10846"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10795"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1159\/000113459"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1007\/PL00007400"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00308809"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.47.5.1113"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M011152200"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.20393","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.20393","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T17:40:27Z","timestamp":1697478027000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.20393"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,2,24]]},"references-count":20,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2005,3]]}},"alternative-id":["10.1002\/ana.20393"],"URL":"https:\/\/doi.org\/10.1002\/ana.20393","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,2,24]]}}}