{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T22:39:54Z","timestamp":1789771194279,"version":"4.0.1"},"reference-count":62,"publisher":"SAGE Publications","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAD"],"published-print":{"date-parts":[[2021,7,21]]},"abstract":"<jats:p>Background: Rare variants of SORL1 have been associated with an increased risk of early-onset or late-onset Alzheimer\u2019s disease (AD). However, a lot remains to be clarified about their significance in the pathogenesis of the disease. Objective: To evaluate the role of SORL1 variants among Finnish patients with early-onset AD (EOAD). Methods: The rare SORL1variants were screened in a cohort of 115 Finnish EOAD patients (mean age at onset 58.3 years, range 46\u201365 years) by using the whole-exome sequencing. Results: We found one novel nonsense variant (p.Gln290*) and eight missense variants in SORL1. This is the first study reporting the SORL1 variants p.Lys80Arg, p.Ala789Val and p.Arg866Gln in EOAD patients. Furthermore, two of these three missense variants were overrepresented in EOAD patients compared to gnomAD non-neuro Finnish samples. Conclusion: This study strengthens the earlier findings, that the rare variants in SORL1 are associated with EOAD.<\/jats:p>","DOI":"10.3233\/jad-210207","type":"journal-article","created":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T16:04:16Z","timestamp":1622563456000},"page":"761-770","source":"Crossref","is-referenced-by-count":6,"title":["Novel Rare SORL1 Variants in Early-Onset Dementia"],"prefix":"10.1177","volume":"82","author":[{"given":"Anita","family":"Korpioja","sequence":"first","affiliation":[{"name":"Research Unit of Clinical Neuroscience, Neurology, University of Oulu, Oulu, Finland"},{"name":"MRC, Oulu University Hospital, Oulu, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna","family":"Kr\u00fcger","sequence":"additional","affiliation":[{"name":"Research Unit of Clinical Neuroscience, Neurology, University of Oulu, Oulu, Finland"},{"name":"MRC, Oulu University Hospital, Oulu, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanna","family":"Koivuluoma","sequence":"additional","affiliation":[{"name":"Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit and Biocenter Oulu, University of Oulu, NordLab Oulu, Oulu, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katri","family":"Pylk\u00e4s","sequence":"additional","affiliation":[{"name":"Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit and Biocenter Oulu, University of Oulu, NordLab Oulu, Oulu, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virpi","family":"Moilanen","sequence":"additional","affiliation":[{"name":"Research Unit of Clinical Neuroscience, Neurology, University of Oulu, Oulu, Finland"},{"name":"MRC, Oulu University Hospital, Oulu, 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