Evidence map›Paper›PMID 35348856›Full record

ArticleJournal of neurology2022

Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations.

Arabella Bouzigues, Lucy L Russell, Georgia Peakman, Martina Bocchetta, Caroline V Greaves, Rhian S Convery, Emily Todd, James B Rowe, Barbara Borroni, Daniela Galimberti and 27 more

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In one paragraph

Article in Journal of neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 2 pooled it
1.4field-weighted citation impact, top 18% of its field
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

7 citing papers in PubMed, 2 syntheses or guidelines pooled it, 14 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Composite grey matter fingerprints for genetic frontotemporal dementia.Journal of neurology, neurosurgery, and psychiatry · 2026
    Article
  4. A familiar case with an unfamiliar turn.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Article
  5. Article
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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

37 authors at 20 institutions in 10 countries.

Arabella BouziguesDepartment of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.ORCID http://orcid.org/0000-0002-0267-8590
Lucy L RussellDepartment of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.ORCID http://orcid.org/0000-0001-5023-5893
Georgia PeakmanDepartment of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.ORCID http://orcid.org/0000-0002-3319-138X
Martina BocchettaDepartment of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.ORCID http://orcid.org/0000-0003-1814-5024
Caroline V GreavesDepartment of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.ORCID http://orcid.org/0000-0002-6446-1960
Rhian S ConveryDepartment of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.ORCID http://orcid.org/0000-0002-9477-1812
Emily ToddDepartment of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
James B RoweTrust and Medical Research Council Cognition and Brain Sciences Unit, Department of Clinical Neurosciences and Cambridge University Hospitals NHS, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0001-7216-8679
Barbara BorroniCentre for Neurodegenerative Disorders, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
Daniela GalimbertiDepartment of Biomedical, Surgical and Dental Sciences, University of Milan, Milan, Italy.
Pietro TiraboschiFondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Mario MasellisSunnybrook Health Sciences Centre, Sunnybrook Research Institute, University of Toronto, Toronto, Canada.
Maria Carmela TartagliaTanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Canada.
Elizabeth FingerDepartment of Clinical Neurological Sciences, University of Western Ontario, London, ON, Canada.ORCID http://orcid.org/0000-0003-4461-7427
John C van SwietenDepartment of Neurology, Erasmus Medical Centre, Rotterdam, Netherlands.ORCID http://orcid.org/0000-0001-6278-6844
Harro SeelaarDepartment of Neurology, Erasmus Medical Centre, Rotterdam, Netherlands.
Lize JiskootDepartment of Neurology, Erasmus Medical Centre, Rotterdam, Netherlands.
Sandro SorbiDepartment of Neurofarba, University of Florence, Florence, Italy.
Chris R ButlerNuffield Department of Clinical Neurosciences, Medical Sciences Division, University of Oxford, Oxford, UK.
Caroline GraffDivision of Neurogeriatrics, Department of Neurobiology, Care Sciences and Society, Center for Alzheimer Research, Bioclinicum, Karolinska Institutet, Solna, Sweden.
Alexander GerhardDivision of Neuroscience and Experimental Psychology, Wolfson Molecular Imaging Centre, University of Manchester, Manchester, UK.
Tobias LangheinrichDivision of Neuroscience and Experimental Psychology, Wolfson Molecular Imaging Centre, University of Manchester, Manchester, UK.
Robert LaforceDépartement Des Sciences Neurologiques, Clinique Interdisciplinaire de Mémoire, CHU de Québec, and Faculté de Médecine, Université Laval, Québec, QC, Canada.
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.
Alexandre de MendonçaFaculty of Medicine, University of Lisbon, Lisbon, Portugal.
Fermin MorenoCognitive Disorders Unit, Department of Neurology, Donostia University Hospital, San Sebastian, Gipuzkoa, Spain.
Matthis SynofzikDepartment of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.
Rik VandenbergheLaboratory for Cognitive Neurology, Department of Neurosciences, KU Leuven, Leuven, Belgium.
Simon DucharmeDepartment of Psychiatry, Douglas Mental Health University Institute, McGill University, Montreal, Canada.
Isabelle Le BerParis Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, Sorbonne Université, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France.
Johannes LevinNeurologische Klinik Und Poliklinik, Ludwig-Maximilians-Universität, Munich, Germany.ORCID http://orcid.org/0000-0001-5092-4306
Adrian DanekNeurologische Klinik Und Poliklinik, Ludwig-Maximilians-Universität, Munich, Germany.
Markus OttoDepartment of Neurology, University of Ulm, Ulm, Germany.ORCID http://orcid.org/0000-0002-6647-5944
Florence PasquierUniv Lille, Lille, France.
Isabel SantanaNeurology Service, Faculty of Medicine, University Hospital of Coimbra (HUC), University of Coimbra, Coimbra, Portugal.
Jonathan D RohrerDepartment of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK. j.rohrer@ucl.ac.uk.
Genetic FTD Initiative, GENFI
UK Dementia Research Institute · GBErasmus University Rotterdam · NLSalford Royal NHS Foundation Trust · GBFondazione IRCCS Istituto Neurologico Carlo Besta · ITKarolinska University Hospital · SEUniversity of Coimbra · PTGerman Center for Neurodegenerative Diseases · DEUniversity of Brescia · ITBiogipuzkoa Health Research Institute · ESCentre National de la Recherche Scientifique · FRDon Carlo Gnocchi Foundation · ITInserm · FRLudwig-Maximilians-Universität München · DEMontreal Neurological Institute and Hospital · CAMRC Cognition and Brain Sciences Unit · GBMunich Cluster for Systems Neurology · DESunnybrook Health Science Centre · CAUniversitat de Barcelona · ESUniversität Ulm · DEUniversité Laval · CA

Funding

Alzheimer's Society UK S-JF-19a-004-517Deutsche Forschungsgemeinschaft EXC 2145 SyNergy - ID 390857198JPND GENFI-PROX 2019-02248Medical Research Council MR/M008525/1Medical Research Council MR/M023664/1Medical Research Council MR/T046015/1Miriam Marks Brain Research UK MR/M008525/1MRC UK GENFI MR/M023664/1National Brain Appeal RCN 290173NIHR Cambridge Biomedical Research Centre BRC-1215-20014NIHR Rare Disease Translational Research Collaboration BRC149/NS/MHThe National Brain Appeal RCN 290173
6 · The paper itself

Abstract

introductionA third of frontotemporal dementia (FTD) is caused by an autosomal-dominant genetic mutation in one of three genes: microtubule-associated protein tau (MAPT), chromosome 9 open reading frame 72 (C9orf72) and progranulin (GRN). Prior studies of prodromal FTD have identified impaired executive function and social cognition early in the disease but few have studied naming in detail.

methodsWe investigated performance on the Boston Naming Test (BNT) in the GENetic Frontotemporal dementia Initiative cohort of 499 mutation carriers and 248 mutation-negative controls divided across three genetic groups: C9orf72, MAPT and GRN. Mutation carriers were further divided into 3 groups according to their global CDR plus NACC FTLD score: 0 (asymptomatic), 0.5 (prodromal) and 1 + (fully symptomatic). Groups were compared using a bootstrapped linear regression model, adjusting for age, sex, language and education. Finally, we identified neural correlates of anomia within carriers of each genetic group using a voxel-based morphometry analysis.

resultsAll symptomatic groups performed worse on the BNT than controls with the MAPT symptomatic group scoring the worst. Furthermore, MAPT asymptomatic and prodromal groups performed significantly worse than controls. Correlates of anomia in MAPT mutation carriers included bilateral anterior temporal lobe regions and the anterior insula. Similar bilateral anterior temporal lobe involvement was seen in C9orf72 mutation carriers as well as more widespread left frontal atrophy. In GRN mutation carriers, neural correlates were limited to the left hemisphere, and involved frontal, temporal, insula and striatal regions.

conclusionThis study suggests the development of early anomia in MAPT mutation carriers, likely to be associated with impaired semantic knowledge. Clinical trials focused on the prodromal period within individuals with MAPT mutations should use language tasks, such as the BNT for patient stratification and as outcome measures.

Indexed as

AnomiaFrontotemporal Dementiatau ProteinsC9orf72 ProteinHumansMutationProgranulinsC9orf72 ProteinMAPT protein, humanProgranulinstau ProteinsC9orf72CognitionFrontotemporal dementiaNamingProgranulinTau

Identifiers

PMID35348856
PMCPMC9294015
OpenAlexW4220826638

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.