ArticleNature communications2024
Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes.
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Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 44 papers.
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44citing papers in PubMed
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What it found
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Who cites it
44 citing papers in PubMed.
- AZP2006 in Progressive Supranuclear Palsy: Outcomes from a Phase 2a Multicenter, Randomized Trial, and Open-Label Extension on Safety, Biomarkers, and Disease Progression.Movement disorders : official journal of the Movement Disorder Society · 2025Trial
- [4-Repeat Tauopathies: Progressive Supranuclear Palsy and Corticobasal Degeneration].Fortschritte der Neurologie-Psychiatrie · 2026Review
- Distinct plasma inflammatory signatures reflect disease severity and progression in progressive supranuclear palsy: a prospective cohort study.Journal of neural transmission (Vienna, Austria : 1996) · 2026Article
- Emerging directions in tauopathy research.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Review
- Using iPSC models to examine neuron-glia interactions in neurodegenerative diseases.Bioscience reports · 2026Review
- Single-nucleus epigenomic dysregulation unmasks genetic risk-associated neurodegenerative glia states.Nature communications · 2026Article
- Genome and transcriptome-wide association studies identify multiple novel loci for dementia with grain in Japanese.Journal of human genetics · 2026Article
- Mosaic integration of spatial multi-omics with SpaMosaic.Nature genetics · 2026Article
- Modification of early behavioural, physiological and neuropathological endpoints by syntaxin-6 knockout in a humanised P301S transgenic model of tauopathy.Acta neuropathologica · 2026Article
- Assessment of Mitochondrial DNA Copy Number in Progressive Supranuclear Palsy Patients: Evidence From a Pilot Study.European journal of neurology · 2026Article
- A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions.Nature genetics · 2026Article
- Dementia in Progressive Supranuclear Palsy: A Narrative Review.Neurology and therapy · 2026Review
- Integrative genomic and functional analyses reveal NINL as a modulator of tau aggregation.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- A critical appraisal of the link between apolipoprotein E and Tau.Current opinion in neurology · 2026Review
- Cross-disease genetic and epigenetic architecture of thebioRxiv : the preprint server for biology · 2026Article
- Progressive Supranuclear Palsy-A Global Review.Movement disorders clinical practice · 2026Review
- Risk genes in progressive supranuclear palsy (PSP) affect integrity and function of microtubules.Frontiers in aging · 2026Review
- Distinct neuroinflammatory profiles in progressive supranuclear palsy associated withBrain communications · 2026Article
- Peripheral and central inflammation in progressive supranuclear palsy syndrome: an immunological and imaging neuroinflammation study.Frontiers in immunology · 2026Article
- From clinical phenotypes to molecular precision: multimodal biomarkers for progressive supranuclear palsy.Frontiers in neuroscience · 2026Review
Corrections and comments
- Erratum issued
Authors and funding
50 authors.
Kurt FarrellDepartment of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Jack HumphreyNash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0002-6274-6620
Timothy ChangDepartment of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.ORCID 0000-0002-9225-9874
Yi ZhaoPenn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Yuk Yee LeungPenn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID 0000-0002-3047-5440
Pavel P KuksaPenn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID 0000-0003-2248-6403
Vishakha PatilDepartment of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Wan-Ping LeePenn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID 0000-0002-5305-1181
Amanda B KuzmaPenn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID 0000-0002-6064-5420
Otto ValladaresPenn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID 0000-0001-8055-2187
Laura B CantwellPenn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Hui WangPenn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Ashvin RaviNash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Claudia De SanctisDepartment of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Natalia HanDepartment of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Thomas D ChristieDepartment of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Robina AfzalDepartment of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Shrishtee KandoiDepartment of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Kristen WhitneyDepartment of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Margaret M KrassnerDepartment of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Hadley ResslerDepartment of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
SoongHo KimDepartment of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Diana DangoorDepartment of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Megan A IidaDepartment of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Alicia CasellaDepartment of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Ruth H WalkerDepartment of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, NY, USA.
Melissa J NirenbergDepartment of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, NY, USA.ORCID 0000-0003-3892-6733
Alan E RentonNash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0001-6702-8268
Bergan BabrowiczDepartment of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Giovanni CoppolaDepartment of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Towfique RajNash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0002-9355-5704
Günter U HöglingerDepartment of Neurology, Ludwig-Maximilians-Universität Hospital, Munich, Germany.ORCID 0000-0001-7587-6187
Ulrich MüllerInstitute of Human Genetics, Justus-Liebig University Giessen, 35392, Giessen, Germany.
Lawrence I GolbeDepartment of Neurology, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USA.
Huw R MorrisDepartment of Clinical and Movement Neurosciences, University College London, London, UK.ORCID 0000-0002-5473-3774
John HardyQueen Square Institute of Neurology, University College London, London, UK.
Tamas ReveszQueen Square Institute of Neurology, University College London, London, UK.
Tom T WarnerDepartment of Clinical and Movement Neurosciences, University College London, London, UK.ORCID 0000-0001-6195-6995
Zane JaunmuktaneDepartment of Clinical and Movement Neurosciences, University College London, London, UK.ORCID 0000-0001-7738-8881
Kin Y MokQueen Square Institute of Neurology, University College London, London, UK.
Rosa RademakersVIB Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium.ORCID 0000-0002-4049-0863
Dennis W DicksonDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.ORCID 0000-0001-7189-7917
Owen A RossDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.ORCID 0000-0003-4813-756X
Li-San WangPenn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Alison GoateNash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0002-0576-2472
Gerard SchellenbergPenn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Daniel H GeschwindDepartment of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.ORCID 0000-0003-2896-3450
PSP Genetics Study Group
John F CraryDepartment of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. John.crary@mountsinai.org.ORCID 0000-0002-0556-293X
Adam NajPenn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Adamnaj@pennmedicine.upenn.edu.ORCID 0000-0002-9621-2942
Funding
National 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
$119.8MAlzheimer's Disease Genetics ConsortiumU01AG032984 · NIA · UNIVERSITY OF PENNSYLVANIA · PI SCHELLENBERG, GERARD DAVID · 2009 to 2024
$60.4MConduits: Mount Sinai Health System Translational Science HubUL1TR004419 · NCATS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Rosalind J Wright · 2022 to 2026
$46.4MTHE NIA GENETICS OF ALZHEIMER'S DISEASE DATA STORAGE SITEU24AG041689 · NIA · UNIVERSITY OF PENNSYLVANIA · PI LI-SAN WANG · 2012 to 2026
$42.3MTransgenic 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 BU, GUOJUN · 1999 to 2018
$36.9MResearch Education ComponentP30AG066514 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI NIKOLAOS K ROBAKIS · 2020 to 2026
$31.0MResearch Education ComponentP30AG072979 · NIA · UNIVERSITY OF PENNSYLVANIA · PI DAVID A WOLK · 2021 to 2026
$24.8MUncovering the Genetic Mechanisms of the Chromosome 17q21.31 Tau Haplotype on Neurodegeneration Risk in FTD and PSPU54NS123746 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H, GOATE, ALISON M · 2021 to 2025
$9.4MHuman Biomarkers CoreU54NS123743 · NINDS · STANFORD UNIVERSITY · PI GITLER, AARON D. · 2021 to 2025
$8.2MClinical Pathological Study of Cognitive Impairment in Essential TremorR01NS086736 · NINDS · YALE UNIVERSITY · PI COSENTINO, STEPHANIE ANN, LOUIS, ELAN D · 2014 to 2023
$8.1MProject 2: Identifying genes and Pathways that impact Tau Toxicity in FTDU54NS100693 · NINDS · MAYO CLINIC JACKSONVILLE · PI PETRUCELLI, LEONARD · 2016 to 2020
$6.2MCSRD VA I01 CX002342NCATS NIH HHS UL1 TR004419NIA NIH HHS K01 AG070326NIA NIH HHS K08 AG065519NIA NIH HHS P01 AG017586NIA NIH HHS P30 AG066514NIA NIH HHS P30 AG072979NIA NIH HHS P50 AG016574NIA NIH HHS R01 AG054008NIA NIH HHS R01 AG054060NIA NIH HHS R56 AG055824NIA NIH HHS RC2 AG036528NIA NIH HHS RF1 AG060961NIA NIH HHS RF1 AG061351NIA NIH HHS RF1 AG074328NIA NIH HHS U01 AG032984NIA NIH HHS U01 AG068880NIA NIH HHS U24 AG021886NIA NIH HHS U24 AG041689NIH HHS S10 OD026880NIH HHS S10 OD030463NINDS NIH HHS R01 NS086736NINDS NIH HHS R01 NS095252NINDS NIH HHS U54 NS100693NINDS NIH HHS U54 NS123743NINDS NIH HHS U54 NS123746NINDS NIH HHS UG3 NS104095NINDS NIH HHS UH3 NS104095
Abstract
Progressive supranuclear palsy (PSP), a rare Parkinsonian disorder, is characterized by problems with movement, balance, and cognition. PSP differs from Alzheimer's disease (AD) and other diseases, displaying abnormal microtubule-associated protein tau by both neuronal and glial cell pathologies. Genetic contributors may mediate these differences; however, the genetics of PSP remain underexplored. Here we conduct the largest genome-wide association study (GWAS) of PSP which includes 2779 cases (2595 neuropathologically-confirmed) and 5584 controls and identify six independent PSP susceptibility loci with genome-wide significant (P < 5 × 10
Indexed as
Genetic Predisposition to DiseaseGenome-Wide Association StudyQuantitative Trait LociSupranuclear Palsy, Progressivetau ProteinsAgedAged, 80 and overAlzheimer DiseaseCase-Control StudiesFemaleHumansMaleMiddle AgedMyelin ProteinsNeurogliaOligodendrogliaMAPT protein, humanMOBP protein, humanMyelin Proteinstau Proteins
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