Evidence map›Paper›PMID 31870644›Full record

ArticleNeurobiology of aging2020

Two pathologically confirmed cases of novel mutations in the MAPT gene causing frontotemporal dementia.

Rachelle Shafei, Ione O C Woollacott, Catherine J Mummery, Martina Bocchetta, Rita Guerreiro, Jose Bras, Jason D Warren, Tammaryn Lashley, Zane Jaunmuktane, Jonathan D Rohrer

Open access · hybridAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurobiology of aging, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.5field-weighted citation impact, top 31% 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

8 citing papers in PubMed, 11 citations in OpenAlex.

  1. Article
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  7. Genetics of Progressive Supranuclear Palsy: A Review.Journal of Parkinson's disease · 2021
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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

10 authors at 4 institutions in 2 countries.

Rachelle ShafeiDementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Ione O C WoollacottDementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Catherine J MummeryDementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Martina BocchettaDementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Rita GuerreiroCenter for Neurodegenerative Science, Van Andel Institute, Grand Rapids, MI, USA; Division of Psychiatry and Behavioral Medicine, Michigan State University College of Human Medicine, Grand Rapids, MI, USA.
Jose BrasCenter for Neurodegenerative Science, Van Andel Institute, Grand Rapids, MI, USA; Division of Psychiatry and Behavioral Medicine, Michigan State University College of Human Medicine, Grand Rapids, MI, USA.
Jason D WarrenDementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Tammaryn LashleyQueen Square Brain Bank for Neurological Disorders, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Zane JaunmuktaneQueen Square Brain Bank for Neurological Disorders, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.
Jonathan D RohrerDementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK. Electronic address: j.rohrer@ucl.ac.uk.
UK Dementia Research Institute · GBVan Andel Institute · USNational Hospital for Neurology and Neurosurgery · GBQueen Mary University of London · GB

Funding

Medical Research Council MR/J009482/1Medical Research Council MR/M008525/1Medical Research Council MR/M018288/1Medical Research Council MR/M023664/1
6 · The paper itself

Abstract

MAPT mutations were the first discovered genetic cause of frontotemporal dementia (FTD) in 1998. Since that time, over 60 MAPT mutations have been identified, usually causing behavioral variant FTD and/or parkinsonism clinically. We describe 2 novel MAPT mutations, D252V and G389_I392del, each presenting in a patient with behavioral variant FTD and associated language and cognitive deficits. Neuroimaging revealed asymmetrical left greater than right temporal lobe atrophy in the first case, and bifrontal atrophy in the second case. Disease duration was 8 years and 5 years, respectively. Postmortem examination in both patients revealed a 3-repeat predominant tauopathy, similar in appearance to Pick's disease. These 2 mutations add to the literature on genetic FTD, both presenting with similar clinical and imaging features to previously described cases, and pathologically showing a primary tauopathy similar to a number of other MAPT mutations.

Indexed as

MutationCorneal Dystrophies, HereditaryFemaleFrontotemporal DementiaHumansMagnetic Resonance ImagingMaleMiddle AgedNeuroimagingRetinal DegenerationTauopathiestau ProteinsTemporal LobeTime FactorsMAPT protein, humantau ProteinsFrontotemporal dementiaMAPTTau

Identifiers

PMID31870644
PMCPMC7082764
OpenAlexW2990044753

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.