{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:36:37Z","timestamp":1745469397470,"version":"3.40.4"},"reference-count":9,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurodegener Dis"],"published-print":{"date-parts":[[2011]]},"abstract":"<jats:p>Early-onset Alzheimer\u2019s disease (EOAD) is a rare genetic disorder mainly attributable to a mutation in the presenilin 1 &lt;i&gt;(PSEN1)&lt;\/i&gt; gene. Clinical profile and instrumental findings share common features with adult neuronal ceroid lipofuscinosis. We documented the clinical course in EOAD patients bearing mutations in &lt;i&gt;PSEN1&lt;\/i&gt;. Genetic screening for dementia, EEG acquisition and determination of granular osmiophilic elements (GRODs) from skin biopsy were performed in a patient suffering from a severe cognitive decline and visual hallucinations. The pathogenic M146I mutation in &lt;i&gt;PSEN1&lt;\/i&gt;, and instrumental findings common to adult neuronal ceroid lipofuscinosis were found in the same patient. Posterior low pseudoperiodic sequences at EEG and GRODS elements at skin biopsy might constitute a signature in EOAD.<\/jats:p>","DOI":"10.1159\/000322539","type":"journal-article","created":{"date-parts":[[2011,1,10]],"date-time":"2011-01-10T10:42:09Z","timestamp":1294656129000},"page":"259-261","source":"Crossref","is-referenced-by-count":1,"title":["EEG and Granular Osmiophilic Elements in Early-Onset Alzheimer\u2019s Disease"],"prefix":"10.1159","volume":"8","author":[{"given":"Antonella","family":"Alberici","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Borroni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudio","family":"Bonato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Agosti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefano","family":"Avanzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filippo M.","family":"Santorelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Simonati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Padovani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2011,1,7]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016%2FS0140-6736%2806%2969113-7"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1468-1331.2007.01664.x"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002%2Fana.10760"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.pediatrneurol.2008.10.018"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016%2FS0140-6736%2896%2990261-5"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1001%2Farchneurol.2009.15"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.neurobiolaging.2007.10.009"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002%2Fana.1103"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1074%2Fjbc.M304009200"}],"container-title":["Neurodegenerative Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/322539","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/322539","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T19:11:58Z","timestamp":1745435518000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000322539"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011]]},"references-count":9,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2011,5,1]]},"published-print":{"date-parts":[[2011,5,10]]}},"URL":"https:\/\/doi.org\/10.1159\/000322539","archive":["Portico"],"relation":{},"ISSN":["1660-2854","1660-2862"],"issn-type":[{"type":"print","value":"1660-2854"},{"type":"electronic","value":"1660-2862"}],"subject":[],"published":{"date-parts":[[2011]]}}}