ArticleNature genetics2026
A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions.
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123 authors.
Wouter De CosterDepartment of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.ORCID http://orcid.org/0000-0002-5248-8197
Marleen Van den BroeckDepartment of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
Matt BakerDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.ORCID http://orcid.org/0009-0001-2691-5757
Nikhil B GhayalDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Sarah WynantsDepartment of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.ORCID http://orcid.org/0000-0003-2376-6722
Anthony BatzlerDepartment of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
Cyril PottierDepartment of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.ORCID http://orcid.org/0000-0002-3049-9346
Sara AlidadianiDepartment of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
Fahri KüçükaliDepartment of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.ORCID http://orcid.org/0000-0002-3835-9639
Gregory D JenkinsDepartment of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.ORCID http://orcid.org/0000-0001-6408-6227
Rafaela PolicarpoDepartment of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.ORCID http://orcid.org/0000-0003-0625-1487
Marka van BlitterswijkDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Mariely DeJesus-HernandezDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Alexandra I Soto-BeasleyDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Júlia FauraDepartment of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
Elise CoopmanDepartment of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.ORCID http://orcid.org/0000-0001-8661-1053
Saskia HuttenBiocenter, Institute of Molecular Physiology, Johannes Gutenberg-Universität, Mainz, Germany.
Merel O MolDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0003-2533-2530
David WallonUniv Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Neurology and CNRMAJ, Rouen, France.ORCID http://orcid.org/0000-0002-2634-7198
Anne SiebenLaboratory of Neurology, Translational Neuroscieces, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
Elizabeth C FingerDepartment of Clinical Neurological Sciences, Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada.
Melissa E MurrayDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.ORCID http://orcid.org/0000-0001-7379-2545
Shelley L ForrestLaboratory Medicine Program & Krembil Brain Institute, University Health Network, Toronto, Ontario, Canada.
Maria C TartagliaTanz Centre for Research in Neurodegenerative Disease, University of Toronto, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-5944-8497
Claire TroakesLondon Neurodegenerative Diseases Brain Bank, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.ORCID http://orcid.org/0000-0002-1790-7376
Jeroen G J van RooijDepartment of Neurology, Erasmus Medical Center, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0001-9754-073X
Aivi T NguyenDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
R Ross ReichardDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Natalie L WoodmanQueens Square Brain Bank, Institute of Neurology, UCL, London, UK.
Alissa L NanaDepartment of Neurology, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.ORCID http://orcid.org/0000-0003-3474-8044
Sandra WeintraubMesulam Institute for Cognitive Neurology and Alzheimer's Disease, Northwestern University, Chicago, IL, USA.ORCID http://orcid.org/0000-0003-2605-5205
Tamar GefenMesulam Institute for Cognitive Neurology and Alzheimer's Disease, Northwestern University, Chicago, IL, USA.
Bart De VilLaboratory of Neurology, Translational Neuroscieces, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.ORCID http://orcid.org/0000-0003-1924-2029
Istvan BodiLondon Neurodegenerative Diseases Brain Bank, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.
Oscar L LopezDepartment of Neurology, University of Pittsburgh, Pittsburgh, PA, USA.ORCID http://orcid.org/0000-0002-8546-8256
Susana BoludaSorbonne University, APHP, Department of Neuropathology, DMU-Neuroscience, University Hospital Pitié-Salpêtrière, Institut du Cerveau - Paris Brain Institute - ICM, Inserm U1127, Paris, France.ORCID http://orcid.org/0000-0002-8045-2706
Serge BelliardNormandie Univ, Unicaen, PSL Research University, EPHE, Inserm U1077, CHU de Caen, Neuropsychologie et Imagerie de la Mémoire Humaine, and service de Neurologie, CMRR Haute Bretagne, Chu Pontchaillou, Rennes, France.
Florence LebertMemory center, Department of Neurology, Lille University Hospital, Lille, France.
Florent MarguetUniv Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Pathology and Laboratoire d'Anatomie Pathologique, Rouen, France.
Qinwen MaoDepartment of Pathology, University of Utah, Salt Lake City, UT, USA.
Marsel M MesulamMesulam Institute for Cognitive Neurology and Alzheimer's Disease, Northwestern University, Chicago, IL, USA.ORCID http://orcid.org/0000-0001-5731-851X
Adam L BoxerDepartment of Neurology, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.ORCID http://orcid.org/0000-0002-1215-5064
Mathieu VandenbulckeDepartment of Geriatric Psychiatry, University Hospitals Leuven (UZ Leuven), Leuven, Belgium.
EunRan SuhDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Jolien SchaeverbekeLaboratory for Cognitive Neurology, Department of Neurosciences, Leuven Brain Institute, KU Leuven, Leuven, Belgium.
Jean-Charles LambertUniv. Lille, Inserm, CHU Lille, U1167-RID-AGE facteurs de risque et déterminants moléculaires des maladies liés au vieillissement, Institut Pasteur de Lille, Lille, France.ORCID http://orcid.org/0000-0003-0829-7817
Sonja W ScholzNeurodegenerative Diseases Research Section, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-6623-0429
Clifton L DalgardDepartment of Anatomy, Physiology and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.ORCID http://orcid.org/0000-0003-2025-8239
Bryan J TraynorNeuromuscular Diseases Research Section, National Institute on Aging, Bethesda, MD, USA.
Raphael J GibbsComputational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-6985-0658
Gerard D SchellenbergDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Dorothee DormannBiocenter, Institute of Molecular Physiology, Johannes Gutenberg-Universität, Mainz, Germany.ORCID http://orcid.org/0000-0002-9260-2775
Geert JorisDepartment of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
Tim De PooterDepartment of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.ORCID http://orcid.org/0000-0002-1097-5464
Peter De RijkDepartment of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
Svenn D'HertDepartment of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
Jasper Van DongenDepartment of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.ORCID http://orcid.org/0000-0001-5599-0046
Julie van der ZeeDepartment of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
Mojca StrazisarDepartment of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
Marla GearingDepartment of Pathology and Laboratory Medicine and Department of Neurology, Emory University, Atlanta, GA, USA.
Thomas KukarDepartment of Pharmacology and Chemical Biology, Emory University, Atlanta, GA, USA.ORCID http://orcid.org/0000-0002-3750-6262
Margaret FlanaganUniversity of Texas Health Science Center San Antonio, San Antonio, TX, USA.
Sebastiaan EngelborghsDepartment of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.ORCID http://orcid.org/0000-0003-0304-9785
Bernardino GhettiDepartment of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.ORCID http://orcid.org/0000-0002-1842-8019
Kathy L NewellDepartment of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.ORCID http://orcid.org/0000-0002-1648-7357
Andrew KingLondon Neurodegenerative Diseases Brain Bank, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.
Sigrun RoeberCentre for Neuropathology and Prion Research, Ludwig-Maximilians-University of Munich, Munich, Germany.
Howard J RosenDepartment of Pathology, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.
Salvatore SpinaDepartment of Neurology, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.ORCID http://orcid.org/0000-0003-3570-9143
Patrick CrasNeuropathology lab, IBB-NeuroBiobank BB1901113, Born Bunge Institute, Antwerp, Belgium.ORCID http://orcid.org/0000-0002-7265-7429
Nilüfer Ertekin-TanerDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.ORCID http://orcid.org/0000-0003-4436-8889
Zbigniew K WszolekDepartment of Neurology, Mayo Clinic, Jacksonville, FL, USA.ORCID http://orcid.org/0000-0001-5487-1053
Ryan J UittiDepartment of Neurology, Mayo Clinic, Jacksonville, FL, USA.
William P CheshireDepartment of Neurology, Division of Autonomic Neurology, Mayo Clinic, Jacksonville, FL, USA.
Wolfgang SingerDepartment of Neurology, Mayo Clinic, Rochester, MN, USA.ORCID http://orcid.org/0000-0003-1263-6850
Jochen HermsCentre for Neuropathology and Prion Research, Ludwig-Maximilians-University of Munich, Munich, Germany.ORCID http://orcid.org/0000-0002-6201-1042
Keith A JosephsDepartment of Neurology, Mayo Clinic, Rochester, MN, USA.ORCID http://orcid.org/0000-0003-2930-8634
Jennifer L WhitwellDepartment of Radiology, Mayo Clinic, Rochester, MN, USA.
Ronald C PetersenDepartment of Neurology, Mayo Clinic, Rochester, MN, USA.ORCID http://orcid.org/0000-0002-8178-6601
Florence PasquierUniv. Lille, Inserm, CHU Lille, LilNCog-Lille Neuroscience and Cognition, Lille, France.
Gaël NicolasUniv Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and CNR-MAJ, Rouen, France.ORCID http://orcid.org/0000-0001-9391-7800
Rudolph CastellaniDepartment of Pathology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
Jonathan GlassDepartment of Pathology and Laboratory Medicine and Department of Neurology, Emory University, Atlanta, GA, USA.ORCID http://orcid.org/0000-0002-3295-4971
Bruce L MillerDepartment of Neurology, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.
Gabor G KovacsLaboratory Medicine Program & Krembil Brain Institute, University Health Network, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0003-3841-5511
Robert A RissmanDepartment of Physiology and Neuroscience, Alzheimer's Therapeutic Research Institute, Keck School of Medicine of the University of Southern California, San Diego, CA, USA.
Annie HinikerDepartment of Pathology, University of Southern California, Los Angeles, CA, USA.
Vincent DeramecourtUniv. Lille, Inserm, CHU Lille, LilNCog-Lille Neuroscience and Cognition, Lille, France.
Lee-Cyn AngDepartment of Pathology and Laboratory Medicine, University of Western Ontario, London, Ontario, Canada.
Jin Lee-WayDepartment of Pathology, University of California Davis Medical Center, Sacramento, CA, USA.
Vivianna M Van DeerlinDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0002-7400-9097
Brittany N DuggerDepartment of Pathology, University of California Davis Medical Center, Sacramento, CA, USA.ORCID http://orcid.org/0000-0003-2141-8855
Dietmar R ThalLaboratory of Neuropathology, Department of Imaging and Pathology, Leuven Brain Institute, KU Leuven, Leuven, Belgium.ORCID http://orcid.org/0000-0002-1036-1075
Lea T GrinbergDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.ORCID http://orcid.org/0000-0002-6809-0618
Carlos CruchagaDepartment of Psychiatry, Knight Alzheimer Disease Research Center, Washington University School of Medicine, St. Louis, MO, USA.ORCID http://orcid.org/0000-0002-0276-2899
Thomas ArzbergerCentre for Neuropathology and Prion Research, Ludwig-Maximilians-University of Munich, Munich, Germany.
David G MunozSt. Michael's Hospital, Toronto, Ontario, Canada.
Julia KeithDepartment of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Lorne ZinmanSunnybrook Health Sciences Centre, Toronto, Ontario, Canada.
Ekaterina RogaevaTanz Centre for Research in Neurodegenerative Disease, University of Toronto, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-2852-0329
Edward B LeeDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0002-4589-1180
Stephen J HaggartyDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0002-7872-168X
Olaf AnsorgeNuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0003-1825-5434
Masud HusainNuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0002-6850-9255
Glenda M HallidayUniversity of Sydney, Faculty of Medicine and Health School of Medical Sciences and Brain and Mind Centre, Sydney, New South Wales, Australia.ORCID http://orcid.org/0000-0003-0422-8398
Safa Al-SarrajLondon Neurodegenerative Diseases Brain Bank, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.
Owen A RossDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.ORCID http://orcid.org/0000-0003-4813-756X
Kristel SleegersDepartment of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.ORCID http://orcid.org/0000-0002-0283-2332
Rik VandenbergheLaboratory for Cognitive Neurology, Department of Neurosciences, Leuven Brain Institute, KU Leuven, Leuven, Belgium.ORCID http://orcid.org/0000-0001-6237-2502
Bradley F BoeveDepartment of Neurology, Mayo Clinic, Rochester, MN, USA.ORCID http://orcid.org/0000-0002-4153-8187
Neill R Graff-RadfordDepartment of Neurology, Mayo Clinic, Jacksonville, FL, USA.
Julia KoflerDepartment of Pathology, University of Pittsburgh, Pittsburgh, PA, USA.
Charles L WhiteDivision of Neuropathology, University of Texas Southwestern Medical Center, Dallas, TX, USA.ORCID http://orcid.org/0000-0002-3870-2804
Tammaryn LashleyDepartment of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.
Manuela NeumannDepartment of Neuropathology, University of Tübingen, Tübingen, Germany.
Joanna M BiernackaDepartment of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.ORCID http://orcid.org/0000-0001-9350-4440
William W SeeleyDepartment of Neurology, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.ORCID http://orcid.org/0000-0003-1410-2027
Harro SeelaarDepartment of Neurology, Erasmus Medical Center, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0003-1989-7527
John C van SwietenDepartment of Neurology, Erasmus Medical Center, Rotterdam, the Netherlands.
Jonathan D RohrerDepartment of Neurodegenerative Disease, Dementia Research Centre, University College London Queen Square Institute of Neurology, London, UK.
Dennis W DicksonDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.ORCID http://orcid.org/0000-0001-7189-7917
Ian R A MackenzieDepartment of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.ORCID http://orcid.org/0000-0003-3875-2972
Rosa RademakersDepartment of Biomedical Sciences, University of Antwerp, Antwerp, Belgium. rosa.rademakers@uantwerpen.vib.be.ORCID http://orcid.org/0000-0002-4049-0863
Funding
Technology and Remote Assessment CoreU19AG063911 · NIA · MAYO CLINIC ROCHESTER · 2023 to 2025
$43.1MResearch Education ComponentP30AG072976 · INDIANA UNIVERSITY INDIANAPOLIS · 2025 to 2025
$2.9MC9orf72-mediated features transcriptomic signatures and translational studies for frontotemporal dementia and related disordersR01NS123052 · MAYO CLINIC JACKSONVILLE · 2025 to 2025
$788kFrontotemporal dementia and related disorders: transcriptomic profiling, biomarker discovery, and mechanistic insightR01NS121125 · MAYO CLINIC JACKSONVILLE · 2025 to 2025
$781kNIA NIH HHS P30 AG072976NINDS NIH HHS R01 NS123052NINDS NIH HHS R21 NS110994NINDS NIH HHS RF1 NS123052U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (NINDS) R01NS121125U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (NINDS) R21NS110994U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (NINDS) R35NS097261U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (NINDS) RF1NS123052U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (NINDS) U19AG063911U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (NINDS) UG3NS103870
Abstract
Atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions (aFTLD-U) is neuropathologically characterized by aggregation of the FET family of proteins and clinically manifests as sporadic young-onset frontotemporal dementia. Here we describe a major risk locus on chr15q14 identified through a genome-wide association study in 59 pathologically confirmed aFTLD-U cases and 3,153 controls (lead single nucleotide polymorphism rs549846383, P = 5.85 × 10
Indexed as
DNA Repeat ExpansionFrontotemporal Lobar DegenerationGenetic Predisposition to DiseaseMembrane ProteinsUbiquitinCase-Control StudiesFemaleGenome-Wide Association StudyHaplotypesHumansMalePolymorphism, Single NucleotideRisk FactorsMembrane ProteinsUbiquitin
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