ArticleNeurology2019
Genetic predictors of survival in behavioral variant frontotemporal degeneration.
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Article in Neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 22 citations in OpenAlex.
- Spatial covariance of mGluR5 density and structural degeneration in behavioral variant frontotemporal degeneration.Imaging neuroscience (Cambridge, Mass.) · 2026Article
- Higher neighborhood deprivation is associated with accelerated disease progression in behavioral-variant frontotemporal degeneration.Alzheimer's & dementia. Behavior & socioeconomics of aging · 2025Article
- Higher neighborhood deprivation is associated with accelerated disease progression in behavioral-variant frontotemporal degeneration.medRxiv : the preprint server for health sciences · 2025Article
- Disparate and shared transcriptomic signatures associated with cortical atrophy in genetic behavioral variant frontotemporal degeneration.Molecular neurodegeneration · 2025Article
- Risk factors for the neurodegenerative dementias in the Western Pacific region.The Lancet regional health. Western Pacific · 2024Review
- Novel data-driven subtypes and stages of brain atrophy in the ALS-FTD spectrum.Translational neurodegeneration · 2023Article
- Survival in Huntington's disease and other young-onset dementias.International journal of geriatric psychiatry · 2023Article
- Differences in Motor Features ofNeurology · 2022Article
- Common genetic variation is associated with longitudinal decline and network features in behavioral variant frontotemporal degeneration.Neurobiology of aging · 2021Article
- Sex differences in the behavioral variant of frontotemporal dementia: A new window to executive and behavioral reserve.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2021Article
- Adeno-associated virus serotype 1-based gene therapy for FTD caused by GRN mutations.Annals of clinical and translational neurology · 2020Article
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Authors and funding
11 authors at 1 institution in 1 country.
Carrie CaswellFrom the Department of Biostatistics, Epidemiology, and Informatics (C.C., S.X.X.), Department of Neurology (C.T.M., D.J.I., M.G., L.M.M.), Penn Frontotemporal Degeneration Center (C.T.M., D.J.I., M.G., L.M.M.), Translational Neuropathology Research Laboratory (E.B.L.), Department of Pathology and Laboratory Medicine (V.M.V.D., E.B.L., J.Q.T., V.M.-Y.L.), and Center for Neurodegenerative Disease Research (V.M.V.D., E.S., E.B.L., J.Q.T., V.M.-Y.L.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Corey T McMillanFrom the Department of Biostatistics, Epidemiology, and Informatics (C.C., S.X.X.), Department of Neurology (C.T.M., D.J.I., M.G., L.M.M.), Penn Frontotemporal Degeneration Center (C.T.M., D.J.I., M.G., L.M.M.), Translational Neuropathology Research Laboratory (E.B.L.), Department of Pathology and Laboratory Medicine (V.M.V.D., E.B.L., J.Q.T., V.M.-Y.L.), and Center for Neurodegenerative Disease Research (V.M.V.D., E.S., E.B.L., J.Q.T., V.M.-Y.L.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Sharon X XieFrom the Department of Biostatistics, Epidemiology, and Informatics (C.C., S.X.X.), Department of Neurology (C.T.M., D.J.I., M.G., L.M.M.), Penn Frontotemporal Degeneration Center (C.T.M., D.J.I., M.G., L.M.M.), Translational Neuropathology Research Laboratory (E.B.L.), Department of Pathology and Laboratory Medicine (V.M.V.D., E.B.L., J.Q.T., V.M.-Y.L.), and Center for Neurodegenerative Disease Research (V.M.V.D., E.S., E.B.L., J.Q.T., V.M.-Y.L.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Vivianna M Van DeerlinFrom the Department of Biostatistics, Epidemiology, and Informatics (C.C., S.X.X.), Department of Neurology (C.T.M., D.J.I., M.G., L.M.M.), Penn Frontotemporal Degeneration Center (C.T.M., D.J.I., M.G., L.M.M.), Translational Neuropathology Research Laboratory (E.B.L.), Department of Pathology and Laboratory Medicine (V.M.V.D., E.B.L., J.Q.T., V.M.-Y.L.), and Center for Neurodegenerative Disease Research (V.M.V.D., E.S., E.B.L., J.Q.T., V.M.-Y.L.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
EunRan SuhFrom the Department of Biostatistics, Epidemiology, and Informatics (C.C., S.X.X.), Department of Neurology (C.T.M., D.J.I., M.G., L.M.M.), Penn Frontotemporal Degeneration Center (C.T.M., D.J.I., M.G., L.M.M.), Translational Neuropathology Research Laboratory (E.B.L.), Department of Pathology and Laboratory Medicine (V.M.V.D., E.B.L., J.Q.T., V.M.-Y.L.), and Center for Neurodegenerative Disease Research (V.M.V.D., E.S., E.B.L., J.Q.T., V.M.-Y.L.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Edward B LeeFrom the Department of Biostatistics, Epidemiology, and Informatics (C.C., S.X.X.), Department of Neurology (C.T.M., D.J.I., M.G., L.M.M.), Penn Frontotemporal Degeneration Center (C.T.M., D.J.I., M.G., L.M.M.), Translational Neuropathology Research Laboratory (E.B.L.), Department of Pathology and Laboratory Medicine (V.M.V.D., E.B.L., J.Q.T., V.M.-Y.L.), and Center for Neurodegenerative Disease Research (V.M.V.D., E.S., E.B.L., J.Q.T., V.M.-Y.L.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
John Q TrojanowskiFrom the Department of Biostatistics, Epidemiology, and Informatics (C.C., S.X.X.), Department of Neurology (C.T.M., D.J.I., M.G., L.M.M.), Penn Frontotemporal Degeneration Center (C.T.M., D.J.I., M.G., L.M.M.), Translational Neuropathology Research Laboratory (E.B.L.), Department of Pathology and Laboratory Medicine (V.M.V.D., E.B.L., J.Q.T., V.M.-Y.L.), and Center for Neurodegenerative Disease Research (V.M.V.D., E.S., E.B.L., J.Q.T., V.M.-Y.L.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Virginia M-Y LeeFrom the Department of Biostatistics, Epidemiology, and Informatics (C.C., S.X.X.), Department of Neurology (C.T.M., D.J.I., M.G., L.M.M.), Penn Frontotemporal Degeneration Center (C.T.M., D.J.I., M.G., L.M.M.), Translational Neuropathology Research Laboratory (E.B.L.), Department of Pathology and Laboratory Medicine (V.M.V.D., E.B.L., J.Q.T., V.M.-Y.L.), and Center for Neurodegenerative Disease Research (V.M.V.D., E.S., E.B.L., J.Q.T., V.M.-Y.L.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
David J IrwinFrom the Department of Biostatistics, Epidemiology, and Informatics (C.C., S.X.X.), Department of Neurology (C.T.M., D.J.I., M.G., L.M.M.), Penn Frontotemporal Degeneration Center (C.T.M., D.J.I., M.G., L.M.M.), Translational Neuropathology Research Laboratory (E.B.L.), Department of Pathology and Laboratory Medicine (V.M.V.D., E.B.L., J.Q.T., V.M.-Y.L.), and Center for Neurodegenerative Disease Research (V.M.V.D., E.S., E.B.L., J.Q.T., V.M.-Y.L.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Murray GrossmanFrom the Department of Biostatistics, Epidemiology, and Informatics (C.C., S.X.X.), Department of Neurology (C.T.M., D.J.I., M.G., L.M.M.), Penn Frontotemporal Degeneration Center (C.T.M., D.J.I., M.G., L.M.M.), Translational Neuropathology Research Laboratory (E.B.L.), Department of Pathology and Laboratory Medicine (V.M.V.D., E.B.L., J.Q.T., V.M.-Y.L.), and Center for Neurodegenerative Disease Research (V.M.V.D., E.S., E.B.L., J.Q.T., V.M.-Y.L.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Lauren M MassimoFrom the Department of Biostatistics, Epidemiology, and Informatics (C.C., S.X.X.), Department of Neurology (C.T.M., D.J.I., M.G., L.M.M.), Penn Frontotemporal Degeneration Center (C.T.M., D.J.I., M.G., L.M.M.), Translational Neuropathology Research Laboratory (E.B.L.), Department of Pathology and Laboratory Medicine (V.M.V.D., E.B.L., J.Q.T., V.M.-Y.L.), and Center for Neurodegenerative Disease Research (V.M.V.D., E.S., E.B.L., J.Q.T., V.M.-Y.L.), Perelman School of Medicine, University of Pennsylvania, Philadelphia. lmassimo@upenn.edu.
Mahindra and Mahindra Limited (India) · IN
Funding
Transgenic Mouse Models of Tau PathologiesP01AG017586 · NIA · UNIVERSITY OF PENNSYLVANIA · PI LEE, VIRGINIA M · 2000 to 2021
$37.3MUPenn ADCC Biomarker CoreP30AG010124 · NIA · UNIVERSITY OF PENNSYLVANIA · PI DETRE, JOHN A · 1991 to 2020
$35.1MUnderstanding Environmental Contributions to Heterogeneity in bvFTD.P01AG066597 · NIA · UNIVERSITY OF PENNSYLVANIA · PI David John Irwin, Corey T McMillan · 2020 to 2026
$18.8MTraining in Alzheimer’s and Age-Related Neurodegenerative DiseasesT32AG000255 · NIA · UNIVERSITY OF PENNSYLVANIA · PI ALICE S CHEN-PLOTKIN, VIRGINIA M LEE · 1997 to 2026
$12.5MIdentification of Endophenotypes in the Behavioral-Variant of Frontotemporal DemeK23NS088341 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI IRWIN, DAVID JOHN · 2014 to 2018
$836kCognitive and Neural Moderators of Longitudinal Decline in Frontotemporal DegenerationR00AG056054 · NIA · UNIVERSITY OF PENNSYLVANIA · PI MASSIMO, LAUREN M · 2018 to 2020
$747kMultimodal Biomarkers in Frontotemporal Lobar DegenerationK01AG043503 · NIA · UNIVERSITY OF PENNSYLVANIA · PI MCMILLAN, COREY T · 2013 to 2017
$642kCognitive and Neural Moderators of Longitudinal Decline in Frontotemporal DegenerationK99AG056054 · NIA · PENNSYLVANIA STATE UNIVERSITY, THE · PI MASSIMO, LAUREN M · 2016 to 2017
$192kNIA NIH HHS K01 AG043503NIA NIH HHS K99 AG056054NIA NIH HHS P01 AG017586NIA NIH HHS P01 AG066597NIA NIH HHS P30 AG010124NIA NIH HHS R00 AG056054NIA NIH HHS T32 AG000255NINDS NIH HHS K23 NS088341
Abstract
objectiveTo determine autosomal dominant genetic predictors of survival in individuals with behavioral variant frontotemporal degeneration (bvFTD).
methodsA retrospective chart review of 174 cases with a clinical phenotype of bvFTD but no associated elementary neurologic features was performed, with diagnosis either autopsy-confirmed (n = 57) or supported by CSF evidence of non-Alzheimer pathology (n = 117). Genetic analysis of the 3 most common genes with pathogenic autosomal dominant mutations associated with frontotemporal degeneration was performed in all patients, which identified cases with
resultsAcross all patients with bvFTD, the presence of a disease-associated pathogenic mutation was associated with shortened survival (hazard ratio [HR] 2.164, 95% confidence interval [CI] 1.391, 3.368). In separate models, a
conclusionsOur findings suggest that autosomal dominantly inherited mutations, modulated by age at symptom onset, associate with shorter survival among patients with bvFTD. We suggest that clinical trials and clinical management should consider mutation status and age at onset when evaluating disease progression.
Indexed as
Survival RateAgedAge of OnsetC9orf72 ProteinFemaleFrontotemporal DementiaGenotypeHumansMaleMiddle AgedMutationPhenotypePrognosisProgranulinsProportional Hazards ModelsRetrospective StudiesC9orf72 ProteinC9orf72 protein, humanGRN protein, humanMAPT protein, humanProgranulinstau Proteins
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