Evidence map›Paper›PMID 30528349›Full record

ArticleNeurobiology of aging2019

Frontotemporal dementia spectrum: first genetic screen in a Greek cohort.

Eliana Marisa Ramos, Christos Koros, Deepika Reddy Dokuru, Victoria Van Berlo, Christos Kroupis, Kevin Wojta, Qing Wang, Nikolaos Andronas, Stavroula Matsi, Ion N Beratis and 16 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurobiology of aging, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
1.4field-weighted citation impact, top 19% 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

14 citing papers in PubMed, 23 citations in OpenAlex.

  1. Frontiers in aging neuroscience · 2026
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  5. Review
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  11. NovelNeurology. Genetics · 2021
    Article
  12. Article
  13. Neurology · 2020
    Article
  14. 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

26 authors at 3 institutions in 2 countries.

Eliana Marisa RamosDepartment of Psychiatry and Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
Christos KorosCognitive Disorders/Dementia Unit, 2nd Department of Neurology, National and Kapodistrian University of Athens, Attikon University General Hospital, Athens, Greece.
Deepika Reddy DokuruDepartment of Psychiatry and Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
Victoria Van BerloDepartment of Psychiatry and Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
Christos KroupisDepartment of Clinical Biochemistry, National and Kapodistrian University of Athens, Attikon University General Hospital, Athens, Greece.
Kevin WojtaDepartment of Psychiatry and Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
Qing WangDepartment of Psychiatry and Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
Nikolaos AndronasCognitive Disorders/Dementia Unit, 2nd Department of Neurology, National and Kapodistrian University of Athens, Attikon University General Hospital, Athens, Greece.
Stavroula MatsiCognitive Disorders/Dementia Unit, 2nd Department of Neurology, National and Kapodistrian University of Athens, Attikon University General Hospital, Athens, Greece.
Ion N BeratisCognitive Disorders/Dementia Unit, 2nd Department of Neurology, National and Kapodistrian University of Athens, Attikon University General Hospital, Athens, Greece.
Alden Y HuangDepartment of Psychiatry and Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA; Bioinformatics Interdepartmental Program, University of California, Los Angeles, CA, USA.
Suzee E LeeMemory and Aging Center, Department of Neurology, University of California, San Francisco, CA, USA.
Anastasios BonakisCognitive Disorders/Dementia Unit, 2nd Department of Neurology, National and Kapodistrian University of Athens, Attikon University General Hospital, Athens, Greece.
Chryseis Florou-HatziyiannidouDepartment of Clinical Biochemistry, National and Kapodistrian University of Athens, Attikon University General Hospital, Athens, Greece.
Stella FragkiadakiCognitive Disorders/Dementia Unit, 2nd Department of Neurology, National and Kapodistrian University of Athens, Attikon University General Hospital, Athens, Greece.
Dionysia KontaxopoulouCognitive Disorders/Dementia Unit, 2nd Department of Neurology, National and Kapodistrian University of Athens, Attikon University General Hospital, Athens, Greece.
Dimitrios AgiomyrgiannakisCognitive Disorders/Dementia Unit, 2nd Department of Neurology, National and Kapodistrian University of Athens, Attikon University General Hospital, Athens, Greece; Medical Center of Athens, Memory Disorders Clinic and Day Care Center for 3rd Age 'IASIS', Athens, Greece.
Vasiliki KamtsadeliCognitive Disorders/Dementia Unit, 2nd Department of Neurology, National and Kapodistrian University of Athens, Attikon University General Hospital, Athens, Greece; Medical Center of Athens, Memory Disorders Clinic and Day Care Center for 3rd Age 'IASIS', Athens, Greece.
Niki TsiniaCognitive Disorders/Dementia Unit, 2nd Department of Neurology, National and Kapodistrian University of Athens, Attikon University General Hospital, Athens, Greece; Medical Center of Athens, Memory Disorders Clinic and Day Care Center for 3rd Age 'IASIS', Athens, Greece.
Vasiliki PapastefanopoulouCognitive Disorders/Dementia Unit, 2nd Department of Neurology, National and Kapodistrian University of Athens, Attikon University General Hospital, Athens, Greece; Department of Clinical Biochemistry, National and Kapodistrian University of Athens, Attikon University General Hospital, Athens, Greece.
Maria StamelouCognitive Disorders/Dementia Unit, 2nd Department of Neurology, National and Kapodistrian University of Athens, Attikon University General Hospital, Athens, Greece; Parkinson's Disease and Movement Disorders Department, HYGEIA Hospital, Athens, Greece.
Bruce L MillerMemory and Aging Center, Department of Neurology, University of California, San Francisco, CA, USA.
Leonidas StefanisCognitive Disorders/Dementia Unit, 2nd Department of Neurology, National and Kapodistrian University of Athens, Attikon University General Hospital, Athens, Greece; 1st Department of Neurology, National and Kapodistrian University of Athens, Eginition University Hospital, Athens, Greece.
John D PapatriantafyllouCognitive Disorders/Dementia Unit, 2nd Department of Neurology, National and Kapodistrian University of Athens, Attikon University General Hospital, Athens, Greece; Medical Center of Athens, Memory Disorders Clinic and Day Care Center for 3rd Age 'IASIS', Athens, Greece.
Sokratis G PapageorgiouCognitive Disorders/Dementia Unit, 2nd Department of Neurology, National and Kapodistrian University of Athens, Attikon University General Hospital, Athens, Greece.
Giovanni CoppolaDepartment of Psychiatry and Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA. Electronic address: gcoppola@ucla.edu.
National and Kapodistrian University of Athens · GRUniversity of California, Los Angeles · USUniversity of California, San Francisco · US

Funding

TDP-43 Loss-of-Function: Biology to BiomarkersP01AG019724 · NIA · UNIVERSITY OF PENNSYLVANIA · PI Jennifer Merrilees · 2002 to 2026
$67.2M
PrPSc SPECIFIC INTERACTION WITH NOVEL PrP-Fc FUSION PROTEINSP50AG023501 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI MILLER, BRUCE L · 2004 to 2018
$27.1M
Integrative Center for Neurogenetics and Neurogenomics - OverallP30NS062691 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI COPPOLA, GIOVANNI · 2009 to 2018
$7.4M
Defining trajectories of dynamic biomarkers for C9ORF72 repeat expansion carriersR01AG058233 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI LEE, SUZEE EURIE · 2018 to 2022
$3.2M
Novel Genetic Risk Factors for Alzheimer's Disease (AD) & Frontotemporal DementiaR01AG026938 · NIA · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H · 2005 to 2009
$2.5M
Genetic, Genomic, and Imaging Biomarkers in Degenerative DementiaRC1AG035610 · NIA · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI COPPOLA, GIOVANNI · 2009 to 2010
$910k
Detecting presymptomatic disease in inherited frontotemporal dementiaK23AG039414 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI LEE, SUZEE EURIE · 2011 to 2015
$762k
NIA NIH HHS K23 AG039414NIA NIH HHS P01 AG019724NIA NIH HHS P50 AG023501NIA NIH HHS R01 AG026938NIA NIH HHS R01 AG058233NIA NIH HHS RC1 AG035610NINDS NIH HHS P30 NS062691
6 · The paper itself

Abstract

Frontotemporal dementia (FTD) is a heterogeneous group of neurodegenerative syndromes associated with several causative and susceptibility genes. Herein, we aimed to determine the incidence of the most common causative dementia genes in a cohort of 118 unrelated Greek FTD spectrum patients. We also screened for novel possible disease-associated variants in additional 21 genes associated with FTD or amyotrophic lateral sclerosis. Pathogenic or likely pathogenic variants were identified in 16 cases (13.6%). These included repeat expansions in C9orf72 and loss-of-function GRN variants, and likely pathogenic variants in TARDBP, MAPT, and PSEN1. We also identified 14 variants of unknown significance in other rarer FTD or amyotrophic lateral sclerosis genes that require further segregation and functional analysis. Our genetic screen revealed a high genetic burden in familial Greek FTD cases (30.4%), whereas only two of the sporadic cases (3.5%) carried a likely pathogenic variant. A substantial number of familial cases still remain without an obvious causal variant, suggesting the existence of other FTD genetic causes besides those currently screened in clinical routine.

Indexed as

Amyotrophic Lateral SclerosisAsian PeopleC9orf72 ProteinCohort StudiesDNA Repeat ExpansionFemaleFrontotemporal DementiaGenetic Association StudiesGenetic Predisposition to DiseaseGenetic TestingGreeceHumansMaleMutationC9orf72 ProteinC9orf72 protein, humanC9orf72Frontotemporal dementiaGreeceGRN

Identifiers

PMID30528349
PMCPMC6553875
OpenAlexW2899482757

What OpenQuestion holds

Textmetadata
LicenceTDM
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.