Evidence map›Paper›PMID 32180125›Full record

ArticleBrain imaging and behavior2020

Temporal variant of frontotemporal dementia in C9orf72 repeat expansion carriers: two case studies.

Francesca Caso, Federica Agosta, Giuseppe Magnani, Rosalinda Cardamone, Valentina Borghesani, Zachary Miller, Nilo Riva, Renaud La Joie, Giovanni Coppola, Lea T Grinberg and 4 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Brain imaging and behavior, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
–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

2 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. 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

14 authors.

Francesca CasoNeuroimaging Research Unit, Institute of Experimental Neurology, Division of Neuroscience, IRCCS Ospedale San Raffaele, Via Olgettina, 60, 20132, Milan, Italy.
Federica AgostaNeuroimaging Research Unit, Institute of Experimental Neurology, Division of Neuroscience, IRCCS Ospedale San Raffaele, Via Olgettina, 60, 20132, Milan, Italy.
Giuseppe MagnaniNeurology Unit, IRCCS Ospedale San Raffaele, Milan, Italy.
Rosalinda CardamoneNeurology Unit, IRCCS Ospedale San Raffaele, Milan, Italy.
Valentina BorghesaniMemory and Aging Center, University of California, San Francisco, CA, USA.
Zachary MillerMemory and Aging Center, University of California, San Francisco, CA, USA.
Nilo RivaNeuropathology Unit, Institute of Experimental Neurology, Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy.
Renaud La JoieMemory and Aging Center, University of California, San Francisco, CA, USA.
Giovanni CoppolaDepartment of Psychiatry, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA, USA.
Lea T GrinbergMemory and Aging Center, University of California, San Francisco, CA, USA.
William W SeeleyMemory and Aging Center, University of California, San Francisco, CA, USA.
Bruce L MillerMemory and Aging Center, University of California, San Francisco, CA, USA.
Maria Luisa Gorno-TempiniMemory and Aging Center, University of California, San Francisco, CA, USA.
Massimo FilippiNeuroimaging Research Unit, Institute of Experimental Neurology, Division of Neuroscience, IRCCS Ospedale San Raffaele, Via Olgettina, 60, 20132, Milan, Italy. filippi.massimo@hsr.it.ORCID http://orcid.org/0000-0002-5485-0479

Funding

TDP-43 Loss-of-Function: Biology to BiomarkersP01AG019724 · NIA · UNIVERSITY OF PENNSYLVANIA · PI Jennifer Merrilees · 2002 to 2026
$67.2M
Research Education ComponentP30AG062422 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Serggio Carlo Lanata · 2019 to 2026
$36.9M
PrPSc SPECIFIC INTERACTION WITH NOVEL PrP-Fc FUSION PROTEINSP50AG023501 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI MILLER, BRUCE L · 2004 to 2018
$27.1M
Progressive Aphasia Cognition Anatomy and ProgressionR01NS050915 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI MARIA LUISA GORNO TEMPINI · 2004 to 2026
$11.0M
Connectomic imaging in familial and sporadic frontotemporal degenerationU01AG052943 · NIA · UNIVERSITY OF PENNSYLVANIA · PI GORNO TEMPINI, MARIA LUISA, GROSSMAN, MURRAY · 2016 to 2019
$5.9M
Training program in the neurology of language and neurodegenerative aphasiasK24DC015544 · NIDCD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI GORNO TEMPINI, MARIA LUISA · 2016 to 2025
$1.9M
Neuropathological changes underlying clinical heterogeneity in Alzheimer diseaseK24AG053435 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI GRINBERG, LEA TENENHOLZ · 2016 to 2025
$1.8M
Primary Progessive Aphasia: Cognition, Anatomy and ProgressionR56NS050915 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI GORNO TEMPINI, MARIA LUISA · 2008 to 2008
$315k
Ministero della Salute GR-2011-02351217Ministero dell'Istruzione, dell'Università e della Ricerca Ivascomar CTN01_00177_165430NIA NIH HHS K24 AG053435NIA NIH HHS P01 AG019724NIA NIH HHS P30 AG062422NIA NIH HHS P50 AG023501NIA NIH HHS U01 AG052943NIDCD NIH HHS K24 DC015544NINDS NIH HHS R01 NS050915NINDS NIH HHS R56 NS050915
6 · The paper itself

Abstract

The temporal variant of frontotemporal dementia (tv-FTD) is a progressive neurodegenerative disease with a complex clinical picture mainly characterized by behavioral and language disorders. In this work, we describe clinical, genetic, neuroanatomical and neuropathological (only in one case) features of two patients with tv-FTD carrying C9orf72 repeat expansion. The first patient (AB) presented with a 1-year disease duration showing focal right anterior temporal lobe (ATL) atrophy on magnetic resonance imaging (MRI). The second patient (BC) came to medical attention 13 years after disease onset and showed a prominent bilateral ATL involvement. Both patients showed naming deficits, impairment in identifying known faces and proper names, and personality changes with new onset behavioral rigidity, and progressing language difficulties to single-word and sentence comprehension difficulties. They were classified as tv-FTD. Clinical, cognitive and MRI follow-up were performed. As cognitive impairment progressed, MRI atrophy worsened in ATL and frontotemporal areas in both patients. Both cases had clear family histories of neurological and/or psychiatric disease. Genetic testing revealed a C9orf72 hexanucleotide repeat expansion in both cases. BC passed away after 15 years of disease and autopsy showed the expected TDP-type B pathology. These genetic cases of tv-FTD highlight the susceptibility of ATL to C9orf72-related pathology and emphasize the importance of genetical testing in FTD-spectrum disorders, regardless of the clinical phenotype.

Indexed as

AgedAtrophyBrainC9orf72 ProteinFemaleFrontotemporal DementiaHeterozygoteHumansMagnetic Resonance ImagingMaleMiddle AgedMutationNeurodegenerative DiseasesPhenotypeTemporal LobeC9orf72 ProteinC9orf72 protein, humanC9orf72LanguageMagnetic resonance imagingSocial cognitionTDP-43Temporal variant of frontotemporal dementia

Identifiers

PMID32180125
PMCPMC7467111

What OpenQuestion holds

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LicenceTDM
Read underepoch 390

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.