ArticleAlzheimer's & dementia : the journal of the Alzheimer's Association2020
Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.
Registry-linked trialOpen access · greenAbstract read
In one paragraph
Article in Alzheimer's & dementia : the journal of the Alzheimer's Association, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02372773 (Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects), which is not on this map. Cited by 56 papers.
0numbers the graph read from it
0cells of the map it votes in
56citing papers in PubMed
4.2field-weighted citation impact, top 4% of its field
What it found
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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.
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.
Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects
Who cites it
56 citing papers in PubMed, 76 citations in OpenAlex.
- Longitudinal functional network connectivity changes across the clinical stages of C9orf72 hexanucleotide repeat expansion carriers.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- Clinical Associations of Cerebrospinal Fluid TMEM106B in Familial and Sporadic Frontotemporal Dementia.JAMA neurology · 2026Article
- Cortical free-water imaging in familial frontotemporal dementia associated with MAPT, GRN, and C9orf72 pathogenic variants.Research square · 2026Article
- Pathogenic or Likely Pathogenic GRN Variants Are Found in 0.1% of Parkinson's Disease Patients.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- White Matter Hyperintensities in Behavioral Variant Frontotemporal Dementia and Semantic Variant Primary Progressive Aphasia.Neurology open access · 2026Article
- Distinct tau filament folds in familial frontotemporal dementia due to thebioRxiv : the preprint server for biology · 2026Article
- Review of Artificial Intelligence for Clinical Use in Alzheimer's Disease and Related Dementias.Seminars in neurology · 2026Review
- Plasma proteomics reveals molecular overlap between physical activity and dementia risk.Brain communications · 2026Article
- Functional Connectivity Associations With Markers of Disease Progression in GRN Pathogenic Variant Carriers.Annals of clinical and translational neurology · 2025Article
- Cortical microstructure in familial frontotemporal dementia associated with MAPT, GRN, and C9orf72 pathogenic variants: Looking beyond atrophy.The journal of prevention of Alzheimer's disease · 2025Article
- Characterizing Dementia Phenotypes from Unstructured EHR Notes with Generative AI and Interpretable Machine Learning.medRxiv : the preprint server for health sciences · 2025Article
- Large-scale network analysis of the cerebrospinal fluid proteome identifies molecular signatures of frontotemporal lobar degeneration.Nature aging · 2025Article
- Sex differences in the clinical manifestation of autosomal dominant frontotemporal dementia.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Sex differences in the executive and behavioral reserve of autosomal dominant frontotemporal dementia.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Comprehensive cross-sectional and longitudinal comparisons of plasma glial fibrillary acidic protein and neurofilament light across FTD spectrum disorders.Molecular neurodegeneration · 2025Article
- Development and validation of the TabCAT-EXAMINER: A tablet-based executive functioning battery for research and clinical trials.Journal of the International Neuropsychological Society : JINS · 2025Article
- Brain aging rejuvenation factors in adults with genetic and sporadic neurodegenerative disease.Brain communications · 2025Article
- Gene-Specific Effects on Brain Volume and Cognition ofNeurology · 2024Article
- Better cardiovascular health is associated with slowed clinical progression in autosomal dominant frontotemporal lobar degeneration variant carriers.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- Examining Associations Between Smartphone Use and Clinical Severity in Frontotemporal Dementia: Proof-of-Concept Study.JMIR aging · 2024Article
Corrections and comments
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Authors and funding
73 authors at 20 institutions in 3 countries.
Eliana Marisa RamosDepartment of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.
Deepika Reddy DokuruDepartment of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.
Victoria Van BerloDepartment of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.
Kevin WojtaDepartment of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.
Qing WangDepartment of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.
Alden Y HuangDepartment of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.
Sandeep DeverasettyDepartment of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.
Yue QinDepartment of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.
Marka van BlitterswijkMayo Clinic, Jacksonville, Florida.
Jazmyne JacksonMayo Clinic, Jacksonville, Florida.
Brian ApplebyCase Western Reserve University, Cleveland, Ohio.
Yvette BordelonUniversity of California Los Angeles, Los Angeles, California.
Patrick BrannellyTau Consortium, Rainwater Charitable Foundation, Fort Worth, Texas.
Danielle E BrushaberMayo Clinic, Rochester, Minnesota.
Bradford DickersonHarvard University/MGH, Boston, Massachusetts.
Susan DickinsonAssociation for Frontotemporal Degeneration, Radnor, Pennsylvania.
Kimiko Domoto-ReillyUniversity of Washington, Seattle, Washington.
Kelley FaberNational Centralized Repository for Alzheimer's Disease and Related Dementia (NCRAD), Indiana University, Indianapolis, Indiana.
Julie FieldsMayo Clinic, Rochester, Minnesota.
Jamie FongUniversity of California, San Francisco, San Francisco, California.
Tatiana ForoudNational Centralized Repository for Alzheimer's Disease and Related Dementia (NCRAD), Indiana University, Indianapolis, Indiana.
Leah K ForsbergMayo Clinic, Rochester, Minnesota.
Ralitza GavrilovaMayo Clinic, Rochester, Minnesota.
Nupur GhoshalWashington University, St. Louis, Missouri.
Jill GoldmanColumbia University, New York, New York.
Jonathan Graff-RadfordMayo Clinic, Rochester, Minnesota.
Neill Graff-RadfordMayo Clinic, Jacksonville, Florida.
Ian GrantNorthwestern University, Chicago, Illinois.
Murray GrossmanUniversity of Pennsylvania, Philadelphia, Pennsylvania.
Hilary W HeuerUniversity of California, San Francisco, San Francisco, California.
Ging-Yuek R HsiungUniversity of British Columbia, Vancouver, British Columbia, Canada.
Edward HueyColumbia University, New York, New York.
David IrwinUniversity of Pennsylvania, Philadelphia, Pennsylvania.
Kejal KantarciMayo Clinic, Rochester, Minnesota.
Anna KarydasUniversity of California, San Francisco, San Francisco, California.
Daniel KauferUniversity of North Carolina, Chapel Hill, North Carolina.
Diana KerwinUniversity of Texas Southwestern Medical Center, Dallas, Texas.
David KnopmanMayo Clinic, Rochester, Minnesota.
John KornakUniversity of California, San Francisco, San Francisco, California.
Joel H KramerUniversity of California, San Francisco, San Francisco, California.
Walter KremersMayo Clinic, Rochester, Minnesota.
Walter KukullNational Alzheimer Coordinating Center (NACC), University of Washington, Seattle, Washington.
Irene LitvanUniversity of California, San Diego, San Diego, California.
Peter LjubenkovUniversity of California, San Francisco, San Francisco, California.
Codrin LunguNational Institute of Neurological Disorders and Stroke (NINDS), Bethesda, Maryland.
Ian MackenzieUniversity of British Columbia, Vancouver, British Columbia, Canada.
Mario F MendezUniversity of California Los Angeles, Los Angeles, California.
Bruce L MillerUniversity of California, San Francisco, San Francisco, California.
Chiadi OnyikeJohns Hopkins University, Baltimore, Maryland.
Alexander PantelyatJohns Hopkins University, Baltimore, Maryland.
Rodney PearlmanBluefield Project, San Francisco, California.
Len PetrucelliMayo Clinic, Jacksonville, Florida.
Madeline PotterNational Centralized Repository for Alzheimer's Disease and Related Dementia (NCRAD), Indiana University, Indianapolis, Indiana.
Katherine P RankinUniversity of California, San Francisco, San Francisco, California.
Katya RascovskyUniversity of Pennsylvania, Philadelphia, Pennsylvania.
Erik D RobersonUniversity of Alabama at Birmingham, Birmingham, Alabama.
Emily RogalskiNorthwestern University, Chicago, Illinois.
Leslie ShawUniversity of Pennsylvania, Philadelphia, Pennsylvania.
Jeremy SyrjanenMayo Clinic, Rochester, Minnesota.
Maria Carmela TartagliaUniversity of Toronto, Toronto, Ontario, Canada.
Nadine TattonAssociation for Frontotemporal Degeneration, Radnor, Pennsylvania.
Joanne TaylorUniversity of California, San Francisco, San Francisco, California.
Arthur TogaLaboratory of Neuroimaging (LONI), USC, Los Angeles, California.
John Q TrojanowskiUniversity of Pennsylvania, Philadelphia, Pennsylvania.
Sandra WeintraubNorthwestern University, Chicago, Illinois.
Bonnie WongHarvard University/MGH, Boston, Massachusetts.
Zbigniew WszolekMayo Clinic, Jacksonville, Florida.
Rosa RademakersMayo Clinic, Jacksonville, Florida.
Brad F BoeveMayo Clinic, Rochester, Minnesota.
Howard J RosenUniversity of California, San Francisco, San Francisco, California.
Adam L BoxerUniversity of California, San Francisco, San Francisco, California.
ARTFL/LEFFTDS consortium
Giovanni CoppolaDepartment of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.
University of California, Los Angeles · USMayo Clinic · USUniversity of California, San Francisco · USUniversity of Pennsylvania · USUniversity of San Francisco · USNorthwestern University · USAssociation for Frontotemporal Degeneration · USColumbia University · USIndiana University – Purdue University Indianapolis · USJacksonville College · USJohns Hopkins University · USMayo Clinic in Florida · USUniversity of British Columbia · CAWinnMed · USBluefield State College · USCase Western Reserve University · USCentral Indiana Gastroenterology Group · USCognitive Neuroimaging Lab · FRDana-Farber/Harvard Cancer Center · USHarvard University · US
Funding
Technology and Remote Assessment CoreU19AG063911 · NIA · MAYO CLINIC ROCHESTER · PI Bradley F Boeve · 2019 to 2026
$120.9MNational Centralized Repository for Alzheimer's Disease and Related Dementias (NCRAD)U24AG021886 · NIA · INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS · PI TATIANA M. FOROUD · 2002 to 2026
$119.8MNATIONAL ALZHEIMERS COORDINATING CENTER (NACC)U01AG016976 · NIA · UNIVERSITY OF WASHINGTON · PI KUKULL, WALTER ANTHONY · 1999 to 2020
$72.8MTDP-43 Loss-of-Function: Biology to BiomarkersP01AG019724 · NIA · UNIVERSITY OF PENNSYLVANIA · PI Jennifer Merrilees · 2002 to 2026
$67.2MTHERAPEUTIC EFFECTS OF INTRA-NASAL INSULIN DETEMIRP50AG005136 · NIA · UNIVERSITY OF WASHINGTON · PI WIJSMAN, ELLEN M · 1985 to 2019
$57.2MSatellite Diagnostic and Treatment Clinic CoreP50AG008702 · NIA · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI DE JAGER, PHILIP L · 1989 to 2019
$46.3MNational Alzheimer's Coordinating CenterU24AG072122 · NIA · UNIVERSITY OF WASHINGTON · PI STEPHENS, KARI A · 2021 to 2025
$45.8MResearch Education ComponentP30AG062421 · NIA · MASSACHUSETTS GENERAL HOSPITAL · PI Christine S Ritchie · 2019 to 2026
$36.5MResearch Education ComponentP30AG066507 · NIA · JOHNS HOPKINS UNIVERSITY · PI Corinne Pettigrew · 2020 to 2026
$29.3MUniversity of Washington Alzheimer's Disease Research CenterP30AG066509 · NIA · UNIVERSITY OF WASHINGTON · PI SUMAN JAYADEV · 2020 to 2026
$29.0MNeuropathology CoreP30AG013854 · NIA · NORTHWESTERN UNIVERSITY AT CHICAGO · PI BIGIO, EILEEN H. · 1996 to 2020
$28.9MUnderstanding Environmental Contributions to Heterogeneity in bvFTD.P01AG066597 · NIA · UNIVERSITY OF PENNSYLVANIA · PI David John Irwin, Corey T McMillan · 2020 to 2026
$18.8MNIA NIH HHS K24 AG045333NIA NIH HHS P01 AG019724NIA NIH HHS P01 AG066597NIA NIH HHS P30 AG013854NIA NIH HHS P30 AG062421NIA NIH HHS P30 AG066507NIA NIH HHS P30 AG066509NIA NIH HHS P50 AG005136NIA NIH HHS P50 AG008702NIA NIH HHS R01 AG062268NIA NIH HHS T32 AG023481NIA NIH HHS U01 AG016976NIA NIH HHS U01 AG045390NIA NIH HHS U19 AG063911NIA NIH HHS U24 AG021886NIA NIH HHS U24 AG072122NIMH NIH HHS R01 MH120794NINDS NIH HHS P01 NS084974NINDS NIH HHS P30 NS062691NINDS NIH HHS R21 NS099631NINDS NIH HHS R35 NS097261NINDS NIH HHS U54 NS092089
Abstract
introductionThe Advancing Research and Treatment for Frontotemporal Lobar Degeneration (ARTFL) and Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects (LEFFTDS) consortia are two closely connected studies, involving multiple North American centers that evaluate both sporadic and familial frontotemporal dementia (FTD) participants and study longitudinal changes.
methodsWe screened the major dementia-associated genes in 302 sporadic and 390 familial (symptomatic or at-risk) participants enrolled in these studies.
resultsAmong the sporadic patients, 16 (5.3%) carried chromosome 9 open reading frame 72 (C9orf72), microtubule-associated protein tau (MAPT), and progranulin (GRN) pathogenic variants, whereas in the familial series we identified 207 carriers from 146 families. Of interest, one patient was found to carry a homozygous C9orf72 expansion, while another carried both a C9orf72 expansion and a GRN pathogenic variant. We also identified likely pathogenic variants in the TAR DNA binding protein (TARDBP), presenilin 1 (PSEN1), and valosin containing protein (VCP) genes, and a subset of variants of unknown significance in other rare FTD genes. DISCUSSION: Our study reports the genetic characterization of a large FTD series and supports an unbiased sequencing screen, irrespective of clinical presentation or family history.
Indexed as
Genetic Predisposition to DiseaseGenetic TestingC9orf72 ProteinFemaleFrontotemporal DementiaHumansMaleMiddle AgedProgranulinstau ProteinsC9orf72 ProteinC9orf72 protein, humanGRN protein, humanMAPT protein, humanProgranulinstau ProteinsC9orf72familialfrontotemporal dementiaGRNMAPTsporadic
Identifiers
What OpenQuestion holds
Textmetadata
LicenceTDM
Read underepoch 390
Registered trials
NCT02372773ClinicalTrials.gov
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.