{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T03:48:47Z","timestamp":1777520927844,"version":"3.51.4"},"reference-count":32,"publisher":"Oxford University Press (OUP)","issue":"8","license":[{"start":{"date-parts":[[2020,7,10]],"date-time":"2020-07-10T00:00:00Z","timestamp":1594339200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"EMBO Short-Term Fellowship","award":["7532-2018-2019"],"award-info":[{"award-number":["7532-2018-2019"]}]},{"name":"COINOR"},{"name":"STAR linea1-2018","award":["18-CSP-UNINA-042"],"award-info":[{"award-number":["18-CSP-UNINA-042"]}]},{"DOI":"10.13039\/100007195","name":"Federico II University of Naples","doi-asserted-by":"crossref","award":["CUP B25C13000240007"],"award-info":[{"award-number":["CUP B25C13000240007"]}],"id":[{"id":"10.13039\/100007195","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,8,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Sialic acid-binding immunoglobulin-type lectins, which are predominantly expressed in immune cells, represent a family of immunomodulatory receptors with inhibitory and activating signals, in both healthy and disease states. Genetic factors are important in all forms of dementia, especially in early onset dementia. CD33 was recently recognized as a genetic risk factor for Alzheimer disease (AD). Here, we present a 2-generation family with 4 members, the father and the 3 siblings, characterized by an early form of unusual dementia exhibiting a behavioral variant close to behavioral variant frontotemporal dementia phenotype and severe forms of memory loss suggestive of AD. We analyzed the CD33 gene in this family and identified 10 single nucleotide polymorphisms (SNPs) in a linkage disequilibrium block associated with the disease. We also identified a tag SNP, rs2455069-A&amp;gt;G, in CD33 exon 2 that could be involved with dementia risk. Additionally, we excluded the presence of C9orf72 expansion mutations and other mutations previously associated with sporadic FTD and AD. The tag SNP association was also analyzed in selected sporadic AD patients from the same Southern Italy region. We demonstrate that CD33 and SIGLECL1 have a significantly increased level of expression in these patients.<\/jats:p>","DOI":"10.1093\/jnen\/nlaa055","type":"journal-article","created":{"date-parts":[[2020,7,10]],"date-time":"2020-07-10T07:05:48Z","timestamp":1594364748000},"page":"891-901","source":"Crossref","is-referenced-by-count":6,"title":["<i>CD33<\/i> and <i>SIGLECL1<\/i> Immunoglobulin Superfamily Involved in Dementia"],"prefix":"10.1093","volume":"79","author":[{"given":"Antonella","family":"Rendina","sequence":"first","affiliation":[{"name":"Institute of Biochemistry and Cell Biology (IBBC), National Research Council of Italy From the (CNR), Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise","family":"Drongitis","sequence":"additional","affiliation":[{"name":"Department of Biology, University of Naples Federico II , Naples, Italy"},{"name":"Institute of Genetics and Biophysics (IGB), National Research Council of Italy (CNR), Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aldo","family":"Donizetti","sequence":"additional","affiliation":[{"name":"Department of Biology, University of Naples Federico II , Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Fucci","sequence":"additional","affiliation":[{"name":"Department of Biology, University of Naples Federico II , Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Graziella","family":"Milan","sequence":"additional","affiliation":[{"name":"Geriatric Center \u201cFrullone\u201d ASL NA1 Centro , Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Tripodi","sequence":"additional","affiliation":[{"name":"Geriatric Center \u201cFrullone\u201d ASL NA1 Centro , Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Giustezza","sequence":"additional","affiliation":[{"name":"Geriatric Center \u201cFrullone\u201d ASL NA1 Centro , Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alfredo","family":"Postiglione","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine & Surgery, University of Naples \u201cFederico II\u201d, Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabina","family":"Pappat\u00e0","sequence":"additional","affiliation":[{"name":"Institute of Bioimaging and Biostructures , CNR, Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raffaele","family":"Ferrari","sequence":"additional","affiliation":[{"name":"Department of Neurodegenerative Disease, University College London , London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Boss\u00f9","sequence":"additional","affiliation":[{"name":"Clinical and Behavioral Neurology, IRCCS Fondazione Santa Lucia , Rome"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonella","family":"Angiolillo","sequence":"additional","affiliation":[{"name":"Centro Ricerca e Formazione in Medicina dell\u2019Invecchiamento (CeRMI), Universit\u00e0 degli Studi del Molise, Ospedale Cardarelli , Campobasso, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alfonso","family":"di Costanzo","sequence":"additional","affiliation":[{"name":"Centro Ricerca e Formazione in Medicina dell\u2019Invecchiamento (CeRMI), Universit\u00e0 degli Studi del Molise, Ospedale Cardarelli , Campobasso, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8975-3257","authenticated-orcid":false,"given":"Massimiliano","family":"Caiazzo","sequence":"additional","affiliation":[{"name":"Department of Pharmaceutics Utrecht, Institute for Pharmaceutical Sciences (UIPS), Utrecht University , Utrecht, The Netherlands"},{"name":"Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II , Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4651-3875","authenticated-orcid":false,"given":"Emilia","family":"Vitale","sequence":"additional","affiliation":[{"name":"Institute of Biochemistry and Cell Biology (IBBC), National Research Council of Italy From the (CNR), Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2020,7,10]]},"reference":[{"key":"2024032523334886200_nlaa055-B1","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1016\/j.nrl.2016.02.016","article-title":"Prevalence and incidence of Alzheimer\u2019s disease in Europe: A meta-analysis","volume":"32","author":"Niu","year":"2017","journal-title":"Neurologia"},{"key":"2024032523334886200_nlaa055-B2","doi-asserted-by":"crossref","first-page":"130","DOI":"10.3109\/09540261.2013.776523","article-title":"The epidemiology of frontotemporal dementia","volume":"25","author":"Onyike","year":"2013","journal-title":"Int Rev Psychiatry"},{"key":"2024032523334886200_nlaa055-B3","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/j.neurobiolaging.2016.12.030","article-title":"GRN deletion in familial Frontotemporal dementia showing association with clinical variability in 3 familial 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