Evidence map›Paper›PMID 41259271›Full record

ArticleJournal of Alzheimer's disease : JAD2026

Neurodevelopmental effects of genetic frontotemporal dementia mutations revealed by total intracranial volume differences.

Isis So, Arabella Bouzigues, Lucy L Russell, Phoebe H Foster, Eve Ferry-Bolder, John C van Swieten, Lize C Jiskoot, Harro Seelaar, Raquel Sanchez-Valle, Robert Laforce and 32 more

Abstract read
In one paragraph

Article in Journal of Alzheimer's disease : JAD, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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.

Isis SoNeuroscience, Schulich School of Medicine & Dentistry, University of Western Ontario, London, ON, Canada.ORCID 0000-0001-6232-2644
Arabella BouziguesDementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Lucy L RussellDementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Phoebe H FosterDementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Eve Ferry-BolderDementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
John C van SwietenDepartment of Neurology and Alzheimer Centre, Erasmus MC University Medical Centre, Rotterdam, the Netherlands.
Lize C JiskootDepartment of Neurology and Alzheimer Centre, Erasmus MC University Medical Centre, Rotterdam, the Netherlands.
Harro SeelaarDepartment of Neurology and Alzheimer Centre, Erasmus MC University Medical Centre, Rotterdam, the Netherlands.
Raquel Sanchez-ValleAlzheimer's disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, Institut d'Investigacións Biomèdiques August Pi I Sunyer, University of Barcelona, Barcelona, Spain.
Robert LaforceClinique Interdisciplinaire de Mémoire, Département des Sciences Neurologiques, CHU de Québec, and Faculté de Médecine, Université Laval, Québec City, QC, Canada.
Caroline GraffDepartment of Neurobiology, Care Sciences and Society, Center for Alzheimer Research, Division of Neurogeriatrics, Bioclinicum, Karolinska Institutet, Stockholm, Sweden.
Daniela GalimbertiFondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy.ORCID 0000-0002-9284-5953
Rik VandenbergheLaboratory for Cognitive Neurology, Department of Neurosciences, KU Leuven, Leuven, Belgium.
Alexandre de MendonçaFaculty of Medicine, University of Lisbon, Lisbon, Portugal.ORCID 0000-0002-0488-1453
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 Neuropharmacology, University of Florence, Florence, Italy.
Markus OttoDepartment of Neurology, University of Ulm, Ulm, Germany.
Florence PasquierUniversity of Lille, Lille, France.
Simon DucharmeDouglas Mental Health University Health Centre, Department of Psychiatry, McGill University, Montreal, Quebec, Canada.
Chris R ButlerGlobal Brain Health, Department of Brain Sciences, Imperial College London, London, UK.
Isabelle Le BerSorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France.
Maria Carmela TartagliaTanz Centre for Research in Neurodegenerative Diseases, Division of Neurology, University of Toronto, Toronto, ON, Canada.ORCID 0000-0002-5944-8497
Mario MasellisDivision of Neurology, Department of Medicine, Sunnybrook Health Sciences Centre; Hurvitz Brain Sciences Program, Sunnybrook Research Institute, University of Toronto, Toronto, ON, Canada.
James B RoweDepartment of Clinical Neurosciences and Cambridge University Hospitals NHS Trust and Medical Research Council Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, UK.ORCID 0000-0001-7216-8679
Matthis SynofzikDepartment of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.ORCID 0000-0002-2280-7273
Fermin MorenoCognitive Disorders Unit, Department of Neurology, Hospital Universitario Donostia, San Sebastian, Spain.
Barbara BorroniNeurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
Tyler KolanderDepartment of Neurology, Mayo Clinic, Rochester, MN, USA.
Carly MesterDepartment of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.ORCID 0000-0002-5863-946X
Danielle BrushaberDepartment of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
Kejal KantarciDepartment of Radiology, Division of Neuroradiology, Mayo Clinic, Rochester, MN, USA.
Hilary W HeuerDepartment of Neurology, Memory and Aging Center, Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.
Leah K ForsbergDepartment of Neurology, Mayo Clinic, Rochester, MN, USA.
Jonathan D RohrerDementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Bradley F BoeveDepartment of Neurology, Mayo Clinic, Rochester, MN, USA.
Adam L BoxerDepartment of Neurology, Memory and Aging Center, Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.
Howard J RosenDepartment of Neurology, Memory and Aging Center, Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.
Elizabeth C FingerNeuroscience, Schulich School of Medicine & Dentistry, University of Western Ontario, London, ON, Canada.ORCID 0000-0003-4461-7427
Frontotemporal Dementia Prevention Initiative (FPI) Investigators

Funding

Wellcome Trust
6 · The paper itself

Abstract

BackgroundConverging evidence hints at neurodevelopmental effects in people at risk of genetic frontotemporal dementia (FTD).ObjectiveWe investigated total intracranial volume (TIV), a neuroimaging marker of neurodevelopment, and years of education differences between adult mutation carriers and familial non-mutation carriers, as measures of the structural and functional neurodevelopmental effects of FTD-causing genetic mutations.MethodsThis cross-sectional cohort study, facilitated through the FTD Prevention Initiative (FPI), included 902 adult pathogenic mutation carriers of

Indexed as

BrainFrontotemporal DementiaMutationAdultAgedC9orf72 ProteinCohort StudiesCross-Sectional StudiesEducational StatusFemaleHumansMagnetic Resonance ImagingMaleMiddle AgedOrgan SizeProgranulinsC9orf72 ProteinC9orf72 protein, humanGRN protein, humanMAPT protein, humanProgranulinstau ProteinsAlzheimer’s diseasedevelopmentfamilial dementiafrontotemporal dementiamagnetic resonance imaging

Identifiers

PMID41259271
PMCPMC12722584

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

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.