{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:56:16Z","timestamp":1777395376764,"version":"3.51.4"},"reference-count":22,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2018,1,23]],"date-time":"2018-01-23T00:00:00Z","timestamp":1516665600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Alzheimer\u2019s Disease"],"published-print":{"date-parts":[[2018,1,23]]},"abstract":"<jats:p>The SORL1 gene encodes a protein involved in the amyloidogenic process, and its variants have been associated with Alzheimer\u2019s disease (AD) physiopathology. We screened for SORL1 variants in 124 familial (44 early- and 80 late-onset) dementia of Alzheimer type (DAT) cases. Nine potentially pathogenic changes (three not previously reported and six rare variants) were found in nine probands (7%). After screening the control population and siblings (presence in at least 1\/200 controls and\/or absence of segregation pattern), a causal relationship with the disease was considered unlikely in six variants and uncertain in one. The change Trp848Ter and a splice-site variant remained likely correlated with the disease. SORL1 mutations are present in 7% of our familial DAT cohort, though in most cases cannot be considered the direct cause of the disease.<\/jats:p>","DOI":"10.3233\/jad-170590","type":"journal-article","created":{"date-parts":[[2018,1,23]],"date-time":"2018-01-23T11:31:38Z","timestamp":1516707098000},"page":"1275-1281","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":11,"title":["<i>SORL1<\/i>\n                    Variants in Familial Alzheimer\u2019s Disease"],"prefix":"10.1177","volume":"61","author":[{"given":"Estrella","family":"G\u00f3mez-Tortosa","sequence":"first","affiliation":[{"name":"Department of Neurology, Fundaci\u00f3n Jim\u00e9nez D\u00edaz, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda","family":"Ruggiero","sequence":"additional","affiliation":[{"name":"Department of Neurology, Fundaci\u00f3n Jim\u00e9nez D\u00edaz, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ma Jos\u00e9","family":"Sainz","sequence":"additional","affiliation":[{"name":"Department of Neurology, Fundaci\u00f3n Jim\u00e9nez D\u00edaz, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Villarejo-Galende","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hospital 12 Octubre, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Prieto-Jurczynska","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hospital Infanta Elena, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bego\u00f1a","family":"Venegas P\u00e9rez","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hospital Infanta Elena, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos","family":"Ord\u00e1s","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hospital Infanta Elena, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pablo","family":"Ag\u00fcero","sequence":"additional","affiliation":[{"name":"Department of Neurology, Fundaci\u00f3n Jim\u00e9nez D\u00edaz, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosa","family":"Guerrero-L\u00f3pez","sequence":"additional","affiliation":[{"name":"Instituto de Investigaciones Sanitarias Fundaci\u00f3n Jim\u00e9nez D\u00edaz (IIS-FJD) and CIBERER (Madrid), Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juli\u00e1n","family":"P\u00e9rez-P\u00e9rez","sequence":"additional","affiliation":[{"name":"Secugen S.L. 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