Evidence map›Paper›PMID 41679970›Full record

ArticleJournal of neurology, neurosurgery, and psychiatry2026

Composite grey matter fingerprints for genetic frontotemporal dementia.

Arabella Bouzigues, Giulia Campana, Matthieu Joulot, Nicolas Gensollen, Lucy L Russell, Phoebe H Foster, Eve Ferry-Bolder, John Cornelis Van Swieten, Lize C Jiskoot, Harro Seelaar and 28 more

Abstract read
In one paragraph

Article in Journal of neurology, neurosurgery, and psychiatry, 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. Article
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

38 authors.

Arabella BouziguesHôpital Pitié-Salpêtrière, Paris Brain Institute, Paris, France arabella.bouzigues.18@ucl.ac.uk.ORCID http://orcid.org/0000-0002-0267-8590
Giulia CampanaDepartment of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
Matthieu JoulotHôpital Pitié-Salpêtrière, Paris Brain Institute, Paris, France.
Nicolas GensollenHôpital Pitié-Salpêtrière, Paris Brain Institute, Paris, France.
Lucy L RussellQueen Square Institute of Neurology, University College London Dementia Research Centre, London, UK.
Phoebe H FosterQueen Square Institute of Neurology, University College London Dementia Research Centre, London, UK.
Eve Ferry-BolderQueen Square Institute of Neurology, University College London Dementia Research Centre, London, UK.
John Cornelis Van SwietenNeurology, Erasmus MC, Rotterdam, The Netherlands.
Lize C JiskootNeurology, Erasmus MC, Rotterdam, The Netherlands.ORCID http://orcid.org/0000-0002-1120-1858
Harro SeelaarNeurology, Erasmus MC, Rotterdam, The Netherlands.ORCID http://orcid.org/0000-0003-1989-7527
Raquel Sánchez-ValleDepartment of Neurology, Hospital Clinic de Barcelona, Barcelona, Spain.
Robert LaforceClinique Interdisciplinaire de Mémoire du CHU de Québec, Laval University, Québec City, Quebec, Canada.
Caroline GraffDepartment of Neurobiology, Care Sciences and Society, KI-ADRC, KASPAC, Novum, Karolinska Universitetssjukhuset, Stockholm, Sweden.
Daniela GalimbertiFondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy.
Rik VandenbergheNeurology Service, University Hospitals Leuven, Leuven, Belgium.ORCID http://orcid.org/0000-0001-6237-2502
Alexandre de MendoncaFaculty of Medicine, University of Lisbon, Lisbon, Portugal.
Pietro TiraboschiFondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.ORCID http://orcid.org/0000-0002-2171-1720
Isabel SantanaNeurology Service, Faculty of Medicine, Coimbra University Hospital Centre, Coimbra, Portugal.
Alexander GerhardDivision of Psychology Communication and Human Neuroscience, Wolfson Molecular Imaging Centre, The University of Manchester, Manchester, UK.ORCID http://orcid.org/0000-0002-8071-6062
Johannes LevinDepartment of Neurology, Ludwig-Maximilians-Universität München, Munich, Germany.
Sandro SorbiDepartment of Neurofarba, University of Florence, Firenze, Italy.ORCID http://orcid.org/0000-0002-0380-6670
Markus OttoDepartment of Neurology, University of Ulm, Ulm, Germany.
Maxime BertouxLille Neurosciences & Cognition U1172, Inserm, Université de Lille, CHU Lille, Lille, France.
Thibaud LebouvierLille Neurosciences & Cognition U1172, Inserm, Université de Lille, CHU Lille, Lille, France.
Simon DucharmeDepartment of Psychiatry, Douglas Mental Health University Institute, Montreal, Quebec, Canada.
Chris ButlerNuffield Department of Clinical Neurosciences, Medical Sciences Division, University of Oxford, Oxford, UK.
Elizabeth FingerClinical Neurological Sciences, University of Western Ontario, London, Ontario, Canada.ORCID http://orcid.org/0000-0003-4461-7427
Maria Carmela TartagliaTanz Centre for Research in Neurodegenerative Disease, University of Toronto, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-5944-8497
Mario MasellisSunnybrook Health Sciences Centre, Sunnybrook Research Institute, University of Toronto, Toronto, Ontario, Canada.
James Benedict RoweDepartment of Clinical Neurosciences, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0001-7216-8679
Matthis SynofzikDivision Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.ORCID http://orcid.org/0000-0002-2280-7273
Fermin MorenoCognitive Disorders Unit, Department of Neurology, University Hospital of Donostia, San Sebastián, Spain.
Barbara BorroniMolecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy.
Isabelle LeberHôpital Pitié-Salpêtrière, Paris Brain Institute, Paris, France.
Gianluigi ZanussoDepartment of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
Jonathan Daniel RohrerQueen Square Institute of Neurology, University College London Dementia Research Centre, London, UK.
Raffaella MigliaccioHôpital Pitié-Salpêtrière, Paris Brain Institute, Paris, France.ORCID http://orcid.org/0000-0002-6960-8474
GENetic Frontotemporal dementia Initiative (GENFI)

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundBrain structural changes in frontotemporal dementia (FTD) can occur decades before symptom onset. Precise characterisation of grey matter changes is necessary for developing models of biomarker progression, while better understanding the trajectory of the pathology is invaluable for prognosis and detecting treatment effects as we enter the era of clinical trials.

methodsCortical and subcortical grey matter volume and thickness from structural MRI were assessed in a large cohort of 892 participants including presymptomatic and symptomatic carriers of mutations within the three main genetic causes of FTD (C9 open reading-frame 72 (C9orf72), progranulin (GRN) and microtubule-associated protein tau (MAPT)) compared with mutation-negative relatives (controls). We compared the distribution of grey matter changes of each metric at different stages of the disease cross sectionally. We aimed to identify grey matter composites for each genetic group which would show the earliest changes and which separated presymptomatic carriers from controls.

resultsWhile C9orf72 mutation carriers showed widespread presymptomatic grey matter changes, MAPT and particularly GRN mutation carriers showed changes more proximally to symptom onset. Our composite grey matter signatures, which discriminate asymptomatic/prodromal carriers from controls with high to very high areas under the curve, involved bilateral thalami volumes, precuneus and postcentral thickness in C9orf72; left caudal middle frontal thickness, frontal pole and pars orbitalis volumes in GRN; right temporal pole volume and left insula thickness in MAPT mutation carriers.

conclusionWe propose the use of cortical thickness and volume measurements combined from multiple regions into a composite region of interest for each FTD genetic group to identify the earliest changes and track disease progression. Our quasi-longitudinal design illustrates that these regions continue to evolve throughout the symptomatic stages. Investigating how our selected composites progress and validating these in longitudinal samples will be invaluable for future clinical trials.

Indexed as

Frontotemporal DementiaGray MatterAdultAgedC9orf72 ProteinCross-Sectional StudiesDisease ProgressionFemaleHumansMagnetic Resonance ImagingMaleMiddle AgedMutationProgranulinstau ProteinsC9orf72 ProteinC9orf72 protein, humanGRN protein, humanMAPT protein, humanProgranulinstau ProteinsDEMENTIAFRONTAL LOBEFRONTOTEMPORAL DEMENTIAIMAGE ANALYSISNEUROANATOMY

Identifiers

PMID41679970
PMCPMC13288956

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.