ArticleNature communications2015
Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.
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Article in Nature communications, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 128 papers, 5 of them syntheses that pooled it.
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128citing papers in PubMed, 5 pooled it
12.3field-weighted citation impact, top 1% of its field
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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.
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Who cites it
128 citing papers in PubMed, 5 syntheses or guidelines pooled it, 240 citations in OpenAlex.
- Brain DNA methylomic analysis of frontotemporal lobar degeneration reveals OTUD4 in shared dysregulated signatures across pathological subtypes.Acta neuropathologica · 2023Pooled it
- Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.Nature genetics · 2021Pooled it
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- [Tauopathies : From molecule to therapy].Der Nervenarzt · 2018Pooled it
- Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies.PLoS medicine · 2018Pooled it
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- Severity dependent distribution of impairments in PSP and CBS: Interactive visualizations.Parkinsonism & related disorders · 2019Trial
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- Identification of common variants influencing risk of the three-repeat tauopathy Pick's disease: a genome wide association study.medRxiv : the preprint server for health sciences · 2025Article
- Diagnostic utility of biomarkers in progressive supranuclear palsy: toward a biotyping framework.Journal of neurology · 2025Review
- Beyond volume: Unraveling the genetics of human brain geometry.Science advances · 2025Article
- Differences in the soluble and insoluble proteome between primary tauopathies.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
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- Protein Pathologies in Oligodendroglia in Neurodegenerative Diseases.Advances in neurobiology · 2025Review
- Loss of Smek1 Induces Tauopathy and Triggers Neurodegeneration by Regulating Microtubule Stability.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes.Nature communications · 2024Article
- MAPT haplotype-associated transcriptomic changes in progressive supranuclear palsy.Acta neuropathologica communications · 2024Article
68 more citing papers are in PubMed but not listed here.
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Authors and funding
54 authors at 19 institutions in 5 countries.
Naomi KouriDepartment of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.ORCID http://orcid.org/0000-0002-6841-9882
Owen A RossDepartment of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.
Beth DombroskiDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
Curtis S YounkinDepartment of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.
Daniel J SerieDivision of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.
Alexandra Soto-OrtolazaDepartment of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.
Matthew BakerDepartment of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.
Ni Cole A FinchDepartment of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.
Hyejin YoonDepartment of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.
Jungsu KimDepartment of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.
Shinsuke FujiokaDepartment of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.
Catriona A McLeanVictorian Brain Bank Network, Mental Health Research Institute, Parksville, Victoria 3052, Australia.
Bernardino GhettiDepartment of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
Salvatore SpinaDepartment of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
Laura B CantwellDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
Martin R FarlowDepartment of Neurology, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
Jordan GrafmanCognitive Neuroscience Laboratory, Brain Injury Research, Rehabilitation Institute of Chicago, Chicago, Illinois 60611, USA.
Edward D HueyDepartments of Psychiatry and Neurology, Columbia University, New York, New York10027, USA.
Mi Ryung HanDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
Sherry BeecherDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
Evan T GellerDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
Hans A KretzschmarDepartment of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.
Sigrun RoeberInstitut for Neuropathology and Prion Research and Brain Net Germany, Ludwig-Maximilians-Universität, Munich 80539, Germany.
Marla GearingDepartment of Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, Georgia 30307, USA.
Jorge L JuncosDepartment of Neurology, Emory University, Atlanta, Georgia 30307, USA.
Jean Paul G VonsattelDepartment of Pathology and the Taub Institute for Research on Alzheimer's disease and the Aging Brain, Columbia University, New York, New York 10027, USA.
Vivianna M Van DeerlinDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.ORCID http://orcid.org/0000-0002-7400-9097
Murray GrossmanDepartment of Neurology, University of Pennsylvania Health System, Philadelphia, Pennsylvania 19104, USA.
Howard I HurtigDepartment of Neurology, University of Pennsylvania Health System, Philadelphia, Pennsylvania 19104, USA.
Rachel G GrossDepartment of Neurology, University of Pennsylvania Health System, Philadelphia, Pennsylvania 19104, USA.
Steven E ArnoldDepartment of Psychiatry, Center for Neurobiology and Behavior, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.
John Q TrojanowskiDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
Virginia M LeeDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
Gregor K WenningDepartment of Neurology, Innsbruck Medical University, Innsbruck 6020, Austria.
Charles L WhiteDepartment of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas 75235, USA.
Günter U HöglingerDepartment of Neurology, Technical University Munich, 81377 Munich, Germany.
Ulrich MüllerInstitut for Humangenetik, Justus-Liebig-Universität, Giessen 35390, Germany.
Bernie DevlinDepartment of Human Genetics, University of Pittsburgh, Pittsburg, Pennsylvania 15260, USA.
Lawrence I GolbeDepartment of Neurology, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey 08901, USA.
Julia CrookDepartment of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.
Joseph E ParisiDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA.
Bradley F BoeveDepartment of Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA.
Keith A JosephsDepartment of Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA.
Zbigniew K WszolekDepartment of Neurology, Mayo Clinic, Jacksonville, Florida 32224, USA.
Ryan J UittiDepartment of Neurology, Mayo Clinic, Jacksonville, Florida 32224, USA.
Neill R Graff-RadfordDepartment of Neurology, Mayo Clinic, Jacksonville, Florida 32224, USA.
Irene LitvanDepartment of Neurosciences, University of California, San Diego, La Jolla, California 92093, USA.
Steven G YounkinDepartment of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.
Li-San WangDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
Nilüfer Ertekin-TanerDepartment of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.
Rosa RademakersDepartment of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.
Hakon HakonarsenCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Gerard D SchellenbergDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
Dennis W DicksonDepartment of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.ORCID http://orcid.org/0000-0001-7189-7917
Jacksonville College · USUniversity of Pennsylvania · USIndiana University School of MedicineMayo Clinic · USMayo Clinic in Florida · USUniversity of Pennsylvania Health System · USColumbia University · USEmory University · USChildren's Hospital of Philadelphia · USInnsbruck Medical University · ATJustus-Liebig-Universität Gießen · DELudwig-Maximilians-Universität München · DEMental Health Research Institute · AUNorthwestern University · USPhilipps University of Marburg · DERutgers, The State University of New Jersey · USThe University of Texas Southwestern Medical Center · USUniversity of California San Diego · USUniversity of Pittsburgh · US
Funding
Research Education ComponentP30AG010133 · NIA · INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS · PI FOROUD, TATIANA M. · 1991 to 2020
$37.3MTransgenic Mouse Models of Tau PathologiesP01AG017586 · NIA · UNIVERSITY OF PENNSYLVANIA · PI LEE, VIRGINIA M · 2000 to 2021
$37.3MTHE PGRN/TDP-43 AXIS IN ALZHEIMER?S DISEASE AND NEURODEGENERATIONP50AG016574 · NIA · MAYO CLINIC ROCHESTER · PI VEMURI, PRASHANTHI · 1999 to 2018
$36.9MUPenn ADCC Biomarker CoreP30AG010124 · NIA · UNIVERSITY OF PENNSYLVANIA · PI TROJANOWSKI, JOHN Q. · 1991 to 2020
$35.1MROLE OF GLUTAMATE IN ALZHEIMER'S DISEASEP30AG012300 · NIA · UT SOUTHWESTERN MEDICAL CENTER · PI ROSENBERG, ROGER NEWMAN · 1994 to 2016
$26.6MThe Emory Alzheimer's Disease CenterP50AG025688 · NIA · EMORY UNIVERSITY · PI WINGO, THOMAS SPURGEON · 2005 to 2019
$25.7MIntegrating the exposome and methylome to inform brain molecular changes in ADRD across established diverse cohorts.U01AG046139 · NIA · UNIVERSITY OF FLORIDA · PI ERTEKIN-TANER, NILUFER, PETERS, METTE · 2013 to 2022
$24.6MProject IV: "Alpha-Synuclein Strains & Diverse Synucleinopathies"P50NS053488 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI TROJANOWSKI, JOHN Q. · 2007 to 2017
$20.9MNeuropathology CoreP50NS072187 · NINDS · MAYO CLINIC JACKSONVILLE · PI DICKSON, DENNIS WILLIAM · 2010 to 2017
$8.7MUnderstanding the role of TDP-43 in Alzheimers disease and FTLDR01AG037491 · NIA · MAYO CLINIC ROCHESTER · PI JOSEPHS, KEITH A · 2010 to 2024
$6.5MExamination of the earliest symptoms and biomarkers of FTLD MAPT carriersR01NS076837 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI COSENTINO, STEPHANIE ANN, HUEY, EDWARD D · 2012 to 2016
$2.5MGene discovery in PSP by transcriptome, neuropathology and sequence analysisR01NS080820 · NINDS · MAYO CLINIC JACKSONVILLE · PI ERTEKIN-TANER, NILUFER · 2013 to 2017
$1.8MNIA NIH HHS P01 AG017586NIA NIH HHS P01 AG17586NIA NIH HHS P30 AG010124NIA NIH HHS P30 AG010133NIA NIH HHS P30 AG012300NIA NIH HHS P30 AG10124NIA NIH HHS P30 AG10133NIA NIH HHS P50 AG0016574NIA NIH HHS P50 AG016574NIA NIH HHS P50 AG025688NIA NIH HHS R01 AG032990NIA NIH HHS R01 AG037491NIA NIH HHS U01 AG046139NINDS NIH HHS P50 NS053488NINDS NIH HHS P50 NS072187NINDS NIH HHS P50 NS53488NINDS NIH HHS R01 NS076837NINDS NIH HHS R01 NS078086NINDS NIH HHS R01 NS080820
Abstract
Corticobasal degeneration (CBD) is a neurodegenerative disorder affecting movement and cognition, definitively diagnosed only at autopsy. Here, we conduct a genome-wide association study (GWAS) in CBD cases (n=152) and 3,311 controls, and 67 CBD cases and 439 controls in a replication stage. Associations with meta-analysis were 17q21 at MAPT (P=1.42 × 10(-12)), 8p12 at lnc-KIF13B-1, a long non-coding RNA (rs643472; P=3.41 × 10(-8)), and 2p22 at SOS1 (rs963731; P=1.76 × 10(-7)). Testing for association of CBD with top progressive supranuclear palsy (PSP) GWAS single-nucleotide polymorphisms (SNPs) identified associations at MOBP (3p22; rs1768208; P=2.07 × 10(-7)) and MAPT H1c (17q21; rs242557; P=7.91 × 10(-6)). We previously reported SNP/transcript level associations with rs8070723/MAPT, rs242557/MAPT, and rs1768208/MOBP and herein identified association with rs963731/SOS1. We identify new CBD susceptibility loci and show that CBD and PSP share a genetic risk factor other than MAPT at 3p22 MOBP (myelin-associated oligodendrocyte basic protein).
Indexed as
AdultAgedAged, 80 and overBasal Ganglia DiseasesCase-Control StudiesCerebral CortexFemaleGenome-Wide Association StudyHumansKinesinsMaleMiddle AgedMyelin ProteinsNeurodegenerative DiseasesPolymorphism, Single NucleotideRNA, Long NoncodingKIF13B protein, humanKinesinsMAPT protein, humanMOBP protein, humanMyelin ProteinsRNA, Long NoncodingSOS1 Proteintau Proteins
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