Evidence map›Paper›PMID 39121124›Full record

ArticleJournal of Alzheimer's disease : JAD2024

Long Non-Coding RNA Profile in Genetic Symptomatic and Presymptomatic Frontotemporal Dementia: A GENFI Study.

Maria Serpente, Chiara Fenoglio, Marina Arcaro, Tiziana Carandini, Luca Sacchi, Manuela Pintus, Emanuela Rotondo, Vittoria Borracci, Laura Ghezzi, Arabella Bouzigues and 32 more

Abstract read
In one paragraph

Article in Journal of Alzheimer's disease : JAD, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. ThebioRxiv : the preprint server for biology · 2026
    Article
  2. LncRNAs Orchestrating Neuroinflammation: A Comprehensive Review.Cellular and molecular neurobiology · 2025
    Review
  3. Blood-Based Biomarkers in Frontotemporal Dementia: A Narrative Review.International journal of molecular sciences · 2024
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

42 authors.

Maria SerpenteFondazione Ca' Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
Chiara FenoglioFondazione Ca' Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
Marina ArcaroFondazione Ca' Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
Tiziana CarandiniFondazione Ca' Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
Luca SacchiFondazione Ca' Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
Manuela PintusFondazione Ca' Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
Emanuela RotondoFondazione Ca' Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
Vittoria BorracciFondazione Ca' Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
Laura GhezziFondazione Ca' Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
Arabella BouziguesDepartment of Neurodegenerative Disease, Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK.
Lucy L RussellDepartment of Neurodegenerative Disease, Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK.
Phoebe H FosterDepartment of Neurodegenerative Disease, Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK.
Eve Ferry-BolderDepartment of Neurodegenerative Disease, Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK.
John C van SwietenDepartment of Neurology, Erasmus Medical Centre, Rotterdam, The Netherlands.
Lize C JiskootDepartment of Neurology, Erasmus Medical Centre, Rotterdam, The Netherlands.
Harro SeelaarDepartment of Neurology, Erasmus Medical Centre, Rotterdam, The Netherlands.
Raquel Sánchez ValleAlzheimer's Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Fundació Clínic per a la Recerca Biomèdica, Universitat de Barcelona, Barcelona, Spain.
Robert LaforceDépartement des Sciences Neurologiques, Clinique Interdisciplinaire de Mémoire, CHU de Québec, and Faculté de Médecine, Université Laval, QC, Canada.
Caroline GraffDepartment of Neurobiology, Care Sciences and Society; Center for Alzheimer Research, Division of Neurogeriatrics, Bioclinicum, Karolinska Institutet, Solna, Sweden.
Rik VandenbergheDepartment of Neurosciences, Laboratory for Cognitive Neurology, KU Leuven, Leuven, Belgium.
Alexandre de MendonçaFaculty of Medicine, University of Lisbon, Lisbon, Portugal.
Pietro TiraboschiFondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Isabel SantanaUniversity Hospital of Coimbra (HUC), Neurology Service, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Alexander GerhardDivision of Psychology Communication and Human Neuroscience, Wolfson Molecular Imaging Centre, University of Manchester, Manchester, UK.
Johannes LevinDepartment of Neurology, Ludwig-Maximilians Universität München, Munich, Germany.
Sandro SorbiDepartment of Neurofarba, University of Florence, Italy.
Markus OttoDepartment of Neurology, University of Ulm, Germany.
Florence PasquierUniversity of Lille, Lille, France.
Simon DucharmeDepartment of Psychiatry, Douglas Mental Health University Institute, McGill University, Montreal, QC, Canada.
Chris R ButlerNuffield Department of Clinical Neurosciences, Medical Sciences Division, University of Oxford, Oxford, UK.
Isabelle Le BerSorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France.
Elizabeth FingerDepartment of Clinical Neurological Sciences, University of Western Ontario, London, ON, Canada.
Maria Carmela TartagliaTanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada.
Mario MasellisSunnybrook Health Sciences Centre, Sunnybrook Research Institute, University of Toronto, Toronto, Canada.
James B RoweDepartment of Clinical Neurosciences and Cambridge University Hospitals NHS Trust, University of Cambridge, Cambridge, UK.
Matthis SynofzikDepartment of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.
Fermin MorenoCognitive Disorders Unit, Department of Neurology, Donostia Universitary Hospital, San Sebastian, Spain.
Barbara BorroniDepartment of Clinical and Experimental Sciences, Neurology Unit, University of Brescia, Brescia, Italy.
Jonathan D RohrerDepartment of Neurodegenerative Disease, Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK.
Andrea ArighiFondazione Ca' Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
Daniela GalimbertiFondazione Ca' Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
Genetic FTD Initiative GENFI

Funding

Medical Research Council MC_UU_00005/12
6 · The paper itself

Abstract

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' relevance in FTD and their potential for biomarker development. Further validation and mechanistic studies are crucial for clinical implications.

Indexed as

C9orf72 ProteinFrontotemporal DementiaProgranulinsRNA, Long Noncodingtau ProteinsAgedBiomarkersFemaleHumansMaleMiddle AgedMutationBiomarkersC9orf72 ProteinC9orf72 protein, humanGRN protein, humanMAPT protein, humanProgranulinsRNA, Long Noncodingtau ProteinsAlzheimer’s diseasechromosome 9 open reading frame 72frontotemporal dementialong non-coding RNAmicrotubule associated protein tauprogranulin

Identifiers

PMID39121124
PMCPMC11380264

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.