{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T00:35:58Z","timestamp":1783470958232,"version":"3.55.0"},"reference-count":24,"publisher":"SAGE Publications","issue":"s1","license":[{"start":{"date-parts":[[2024,8,20]],"date-time":"2024-08-20T00:00:00Z","timestamp":1724112000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAD"],"published-print":{"date-parts":[[2024,8,20]]},"abstract":"<jats:p>Background: Long non-coding RNAs (lncRNAs) play crucial roles in gene regulation and are implicated in neurodegenerative diseases, including frontotemporal dementia (FTD). However, their expression patterns and potential as biomarkers in genetic FTD involving Chromosome 9 Open Reading Frame (C9ORF72), Microtubule Associated Protein Tau (MAPT), and Progranulin (GRN) genes are not well understood. Objective: This study aimed to profile the expression levels of lncRNAs in peripheral blood mononuclear cells collected within the GENetic Frontotemporal dementia Initiative (GENFI). Methods: Fifty-three lncRNAs were analyzed with the OpenArray Custom panel, in 131 patients with mutations in C9ORF72, MAPT, and GRN, including 68 symptomatic mutation carriers (SMC) and 63 presymptomatic mutation carriers (PMC), compared with 40 non-carrier controls (NC). Results: Thirty-eight lncRNAs were detectable; the relative expression of NEAT1 and NORAD was significantly higher in C9ORF72 SMC as compared with NC. GAS5 expression was instead significantly lower in the GRN group versus NC. MAPT carriers showed no significant deregulations. No significant differences were observed in PMC. Disease duration did not correlate with lncRNA expression. Conclusions: NEAT1 and NORAD are upregulated in C9ORF72 SMC and GAS5 levels are downregulated in GRN SMC, underlining lncRNAs\u2019 relevance in FTD and their potential for biomarker development. Further validation and mechanistic studies are crucial for clinical implications.<\/jats:p>","DOI":"10.3233\/jad-240557","type":"journal-article","created":{"date-parts":[[2024,8,9]],"date-time":"2024-08-09T12:31:06Z","timestamp":1723206666000},"page":"S187-S196","source":"Crossref","is-referenced-by-count":4,"title":["Long Non-Coding RNA Profile in Genetic Symptomatic and Presymptomatic Frontotemporal Dementia: A GENFI Study"],"prefix":"10.1177","volume":"100","author":[{"given":"Maria","family":"Serpente","sequence":"first","affiliation":[{"name":"Fondazione Ca\u2019 Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Genetic FTD Initiative GENFI Alberici AntonellaCentre for Neurodegenerative Disorders, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy Afonso S\u00f3niaInstituto Ciencias Nucleares Aplicadas a Saude, Universidade de Coimbra, Coimbra, Portugal Alves PatriciaInstituto de Investigaci\u00f3n Sanitaria Biogipuzkoa, Neurosciences Area, Group of Neurodegenerative Diseases, San Sebastian, Spain Anderl-Straub SarahDepartment of Neurology, University of Ulm, Ulm, Germany Antonell AnnaAl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Fenoglio","sequence":"additional","affiliation":[{"name":"Fondazione Ca\u2019 Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy"},{"name":"Department of Biomedical, Surgical and Dental Sciences, University of Milan, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Arcaro","sequence":"additional","affiliation":[{"name":"Fondazione Ca\u2019 Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiziana","family":"Carandini","sequence":"additional","affiliation":[{"name":"Fondazione Ca\u2019 Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Sacchi","sequence":"additional","affiliation":[{"name":"Fondazione Ca\u2019 Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy"},{"name":"Department of Biomedical, Surgical and Dental Sciences, University of Milan, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Pintus","sequence":"additional","affiliation":[{"name":"Fondazione Ca\u2019 Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy"},{"name":"Department of Biomedical, Surgical and Dental Sciences, University of Milan, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuela","family":"Rotondo","sequence":"additional","affiliation":[{"name":"Fondazione Ca\u2019 Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vittoria","family":"Borracci","sequence":"additional","affiliation":[{"name":"Fondazione Ca\u2019 Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Ghezzi","sequence":"additional","affiliation":[{"name":"Fondazione Ca\u2019 Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy"},{"name":"Department of Biomedical, Surgical and Dental Sciences, University of Milan, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arabella","family":"Bouzigues","sequence":"additional","affiliation":[{"name":"Department of Neurodegenerative Disease, Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucy L.","family":"Russell","sequence":"additional","affiliation":[{"name":"Department of Neurodegenerative Disease, Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phoebe H.","family":"Foster","sequence":"additional","affiliation":[{"name":"Department of Neurodegenerative Disease, Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eve","family":"Ferry-Bolder","sequence":"additional","affiliation":[{"name":"Department of Neurodegenerative Disease, Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John C.","family":"van Swieten","sequence":"additional","affiliation":[{"name":"Department of Neurology, Erasmus Medical Centre, Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lize C.","family":"Jiskoot","sequence":"additional","affiliation":[{"name":"Department of Neurology, Erasmus Medical 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