{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:10:10Z","timestamp":1745424610368,"version":"3.40.4"},"reference-count":16,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"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":[[2019]]},"abstract":"<jats:p>&lt;i&gt;APP&lt;\/i&gt; gene mutations causing Alzheimer disease (AD) segregate in an autosomal dominant pattern. We report on a 40-year-old woman with a severe cognitive decline starting at 36 years, while her affected relatives presented symptoms onset in the 6th decade. The proband carried an &lt;i&gt;APP&lt;\/i&gt; missense variant in homozygous state (NM_000484.4: c.2032G&amp;#x3e;A; NP_000475.1: p.Asp678Asn; rs63750064) and showed a more severe clinical picture than the other AD relatives, as regards the age of onset and the rate of disease progression. This mutation behaves as a semi-dominant trait. The very rare chance of studying &lt;i&gt;APP&lt;\/i&gt; mutations in the homozygous state demonstrates they are not always dominant and other segregation models are possible.<\/jats:p>","DOI":"10.1159\/000502906","type":"journal-article","created":{"date-parts":[[2019,10,2]],"date-time":"2019-10-02T21:00:34Z","timestamp":1570050034000},"page":"96-100","source":"Crossref","is-referenced-by-count":3,"title":["Unusual Segregation of &lt;b&gt;&lt;i&gt;APP&lt;\/i&gt;&lt;\/b&gt; Mutations in Monogenic Alzheimer Disease"],"prefix":"10.1159","volume":"19","author":[{"given":"Gioia","family":"Mastromoro","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefano","family":"Gambardella","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrica","family":"Marchionni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosa","family":"Campopiano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alice","family":"Traversa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlo","family":"Di\u00a0Bonaventura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Pizzuti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2019,10,2]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/S0304-3940(99)00929-5"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.2217\/bmm.09.92"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1155\/2013\/689591"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1126\/science.1168979"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001648"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2003.010611"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1093\/bib\/bbs017"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2892"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.01.004"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bty897"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/ng1718"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182515972"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21321"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M608220200"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M109.086496"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1021\/cn400110d"}],"container-title":["Neurodegenerative Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/502906","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/502906","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:56:06Z","timestamp":1745423766000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000502906"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019]]},"references-count":16,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2019,11,27]]},"published-print":{"date-parts":[[2019,12,3]]}},"URL":"https:\/\/doi.org\/10.1159\/000502906","archive":["Portico"],"relation":{},"ISSN":["1660-2854","1660-2862"],"issn-type":[{"type":"print","value":"1660-2854"},{"type":"electronic","value":"1660-2862"}],"subject":[],"published":{"date-parts":[[2019]]}}}