{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T12:50:25Z","timestamp":1777553425242,"version":"3.51.4"},"reference-count":18,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2025,4,2]],"date-time":"2025-04-02T00:00:00Z","timestamp":1743552000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,4,2]],"date-time":"2025-04-02T00:00:00Z","timestamp":1743552000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["Ricerca Corrente"],"award-info":[{"award-number":["Ricerca Corrente"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Alzheimer's Disease Reports"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:p>\n                    Familial cases of Alzheimer's disease (AD) with autosomal dominant transmission and early onset have a prevalence around 1%. Since only a small fraction of them has a monogenic inheritance due to\n                    <jats:italic toggle=\"yes\">APP, PSEN1<\/jats:italic>\n                    , and\n                    <jats:italic toggle=\"yes\">PSEN2<\/jats:italic>\n                    genes, genetic studies are ongoing to unravel the missing heritability. By sequencing panels including multiple dementia-related genes, we identified a novel likely pathogenic mutation in\n                    <jats:italic toggle=\"yes\">SORL1<\/jats:italic>\n                    in a pedigree including five members affected by AD. This loss of function mutation may lead to a reduction of SORL1 receptor, worsening amyloidogenic burden. As the contribution of\n                    <jats:italic toggle=\"yes\">SORL1<\/jats:italic>\n                    mutations to heritability of AD is presently not well established, we think that it is very important to signal new familial (likely) pathogenic\n                    <jats:italic toggle=\"yes\">SORL1<\/jats:italic>\n                    mutations in order to define the actual genetic involvement of\n                    <jats:italic toggle=\"yes\">SORL1<\/jats:italic>\n                    in AD pathogenesis.\n                  <\/jats:p>","DOI":"10.1177\/25424823241296017","type":"journal-article","created":{"date-parts":[[2025,4,2]],"date-time":"2025-04-02T08:36:29Z","timestamp":1743582989000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["A novel\n                    <i>SORL1<\/i>\n                    mutation in a pedigree affected by early-onset Alzheimer's disease"],"prefix":"10.1177","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7841-8560","authenticated-orcid":false,"given":"Veronica","family":"Redaelli","sequence":"first","affiliation":[{"name":"Neuro-Oncology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9590-6347","authenticated-orcid":false,"given":"Martina","family":"Ricci","sequence":"additional","affiliation":[{"name":"Neurology V and Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5364-9602","authenticated-orcid":false,"given":"Angelo","family":"Del Sole","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Services, Unit of Nuclear Medicine, ASST Santi Paolo e Carlo, Milan, Italy"},{"name":"Department of Health Sciences, University of Milan, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-5854-5843","authenticated-orcid":false,"given":"Marina","family":"Piccione","sequence":"additional","affiliation":[{"name":"Neurology V and Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9632-0591","authenticated-orcid":false,"given":"Sara","family":"Prioni","sequence":"additional","affiliation":[{"name":"Clinical Neuropsychology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6680-2725","authenticated-orcid":false,"given":"Giacomina","family":"Rossi","sequence":"additional","affiliation":[{"name":"Neurology V and Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,4,2]]},"reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(20)32205-4"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.117"},{"key":"e_1_3_4_4_2","first-page":"828","article-title":"Genetics of dementia","volume":"38","author":"Loy CT","year":"2014","unstructured":"Loy CT, Schofield PR, Turner AM, et al. Genetics of dementia. Lancet 2014; 38: 828\u2013840.","journal-title":"Lancet"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-019-01991-4"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.3233\/ADR-200177"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24305"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.conb.2017.09.005"},{"key":"e_1_3_4_10_2","doi-asserted-by":"crossref","first-page":"745407","DOI":"10.3389\/fnagi.2021.745407","article-title":"Analysis of genotype-phenotype correlations in patients with degenerative dementia through the whole exome sequencing","volume":"1","author":"Sun L","year":"2021","unstructured":"Sun L, Zhang J, Su N, et al. Analysis of genotype-phenotype correlations in patients with degenerative dementia through the whole exome sequencing. Front Aging Neurosci 2021; 1: 745407.","journal-title":"Front Aging Neurosci"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms222413633"},{"key":"e_1_3_4_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1943"},{"key":"e_1_3_4_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2802"},{"key":"e_1_3_4_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2015.121"},{"key":"e_1_3_4_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2012.15"},{"key":"e_1_3_4_16_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23084230"},{"key":"e_1_3_4_17_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-016-1566-9"},{"key":"e_1_3_4_18_2","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-017-0441-9"},{"key":"e_1_3_4_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2017.07.001"}],"container-title":["Journal of Alzheimer's Disease Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/25424823241296017","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/25424823241296017","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/25424823241296017","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T05:59:40Z","timestamp":1767679180000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/25424823241296017"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,2]]},"references-count":18,"alternative-id":["10.1177\/25424823241296017"],"URL":"https:\/\/doi.org\/10.1177\/25424823241296017","relation":{},"ISSN":["2542-4823","2542-4823"],"issn-type":[{"value":"2542-4823","type":"print"},{"value":"2542-4823","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,2]]},"article-number":"25424823241296017"}}