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The diagnosis was supported by the presence of amyloid and tau biomarkers. The clinical course, neuroimaging findings, and genetic testing excluded other diseases known to cause early-onset cognitive impairment. Our case exhibited a markedly large duplication of 19 Mb and did not present with cerebral amyloid angiopathy. Our findings suggest a potential association between the size of the duplication and the clinical phenotype.\n                  <\/jats:p>","DOI":"10.1177\/25424823251412896","type":"journal-article","created":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T18:17:36Z","timestamp":1767723456000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Large-scale\n                    <i>APP<\/i>\n                    duplication in early-onset Alzheimer's disease without cerebral amyloid angiopathy: A case report"],"prefix":"10.1177","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0710-6740","authenticated-orcid":false,"given":"Sho","family":"Shimohama","sequence":"first","affiliation":[{"name":"Keio University School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shumpei","family":"Azami","sequence":"additional","affiliation":[{"name":"Keio University School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Munenori","family":"Oyama","sequence":"additional","affiliation":[{"name":"Keio University School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsubasa","family":"Takizawa","sequence":"additional","affiliation":[{"name":"Keio University School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masahito","family":"Kubota","sequence":"additional","affiliation":[{"name":"Keio University School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hisato","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Keio University School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mamiko","family":"Yamada","sequence":"additional","affiliation":[{"name":"Keio University School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin","family":"Nakahara","sequence":"additional","affiliation":[{"name":"Keio University School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4740-1675","authenticated-orcid":false,"given":"Daisuke","family":"Ito","sequence":"additional","affiliation":[{"name":"Keio University School of Medicine"},{"name":"Memory Center, Keio University School of Medicine, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,1,6]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrn3983"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1718"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl237"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13195-023-01172-2"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-018-1866-3"},{"key":"e_1_3_3_7_2","article-title":"Insight into the genetic etiology of Alzheimer's disease: a comprehensive review of the role of rare variants","volume":"13","author":"Hoogmartens J","year":"2021","unstructured":"Hoogmartens J, Cacace R, Van Broeckhoven C. 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