ArticleActa neuropathologica communications2020
Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies.
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Article in Acta neuropathologica communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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26citing papers in PubMed
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Who cites it
26 citing papers in PubMed, 41 citations in OpenAlex.
- DYRK1A and Parkinson's disease, facts and hypotheses.Neurobiology of disease · 2026Review
- "SHANK3 deficiency alters early progenitor dynamics and reveals shared pathways with neurodegeneration".Molecular psychiatry · 2026Article
- Understanding Neurodegenerative Diseases From the -Omics Perspective: Lessons Learnt.Annals of neurology · 2026Review
- Neuroprotective and Neurotrophic Potential ofNutrients · 2025Article
- Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.Nature communications · 2025Article
- Genetic risk and plasma biomarkers of dementia with Lewy bodies in a Chinese population.NPJ Parkinson's disease · 2025Article
- Identification of Novel Biomarkers Related to Vesicle Trafficking in Alzheimer's Disease Using Bioinformatics Approaches.Neurochemical research · 2025Article
- Scrutinizing neurodegenerative diseases: decoding the complex genetic architectures through a multi-omics lens.Human genomics · 2024Review
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- Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.medRxiv : the preprint server for health sciences · 2024Article
- Review
- Vascular and Nonvascular Mechanisms of Cognitive Impairment and Dementia.Clinics in geriatric medicine · 2023Review
- Dementia with Lewy bodies: Impact of co-pathologies and implications for clinical trial design.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2023Review
- Advancing the Genetics of Lewy Body Disorders with Disease-Modifying Treatments in Mind.Advanced genetics (Hoboken, N.J.) · 2022Article
- GRN Mutations Are Associated with Lewy Body Dementia.Movement disorders : official journal of the Movement Disorder Society · 2022Article
- Differential Neuropathology, Genetics, and Transcriptomics in Two Kindred Cases with Alzheimer's Disease and Lewy Body Dementia.Biomedicines · 2022Article
- Prion-like α-synuclein pathology in the brain of infants with Krabbe disease.Brain : a journal of neurology · 2022Article
- Emerging insights into the complex genetics and pathophysiology of amyotrophic lateral sclerosis.The Lancet. Neurology · 2022Review
- Therapeutic Strategies for Immune Transformation in Parkinson's Disease.Journal of Parkinson's disease · 2022Review
- Genetic Architecture and Molecular, Imaging and Prodromic Markers in Dementia with Lewy Bodies: State of the Art, Opportunities and Challenges.International journal of molecular sciences · 2021Review
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Authors and funding
52 authors at 20 institutions in 10 countries.
Tatiana OrmeUK Dementia Research Institute at UCL and Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
Dena HernandezLaboratory of Neurogenetics, National Institutes on Aging, NIH, Bethesda, MD, USA.
Owen A RossDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Celia Kun-RodriguesCenter for Neurodegenerative Science, Van Andel Research Institute, Grand Rapids, Michigan, USA.
Lee DarwentUK Dementia Research Institute at UCL and Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
Claire E ShepherdNeuroscience Research Australia, Sydney, Australia and School of Medical Sciences, Faculty of Medicine, University of New South Wales, Sydney, Australia.
Laura ParkkinenNuffield Department of Clinical Neurosciences, Oxford Parkinson's Disease Centre, University of Oxford, Oxford, UK.
Olaf AnsorgeNuffield Department of Clinical Neurosciences, Oxford Parkinson's Disease Centre, University of Oxford, Oxford, UK.
Lorraine ClarkTaub Institute for Alzheimer Disease and the Aging Brain and Department of Pathology and Cell Biology and Neurology, Columbia University Medical Center, New York, NY, USA.
Lawrence S HonigTaub Institute for Alzheimer Disease and the Aging Brain and Department of Pathology and Cell Biology and Neurology, Columbia University Medical Center, New York, NY, USA.
Karen MarderTaub Institute for Alzheimer Disease and the Aging Brain and Department of Pathology and Cell Biology and Neurology, Columbia University Medical Center, New York, NY, USA.
Afina LemstraDepartment of Neurology and Alzheimer Center, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, the Netherlands.
Ekaterina RogaevaDepartment of Medicine, Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada.
Peter St George-HyslopDepartment of Medicine, Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada.
Elisabet LondosClinical Memory Research Unit, Institution of Clinical Sciences Malmö, Lund University, Lund, Sweden.
Henrik ZetterbergUK Dementia Research Institute at UCL and Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
Kevin MorganHuman Genetics, School of Life Sciences, University of Nottingham, Nottingham, UK.
Claire TroakesDepartment of Basic and Clinical Neuroscience and Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Safa Al-SarrajDepartment of Basic and Clinical Neuroscience and Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Tammaryn LashleyQueen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
Janice HoltonQueen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
Yaroslau ComptaQueen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
Vivianna Van DeerlinDepartment of Pathology and Laboratory Medicine, Center for Neurodegenerative Disease Research, Perelman School of Medicine at the University of Pennsylvania, 3600 Spruce Street, Philadelphia, USA.
John Q TrojanowskiDepartment of Pathology and Laboratory Medicine, Center for Neurodegenerative Disease Research, Perelman School of Medicine at the University of Pennsylvania, 3600 Spruce Street, Philadelphia, USA.
Geidy E SerranoBanner Sun Health Research Institute, 10515 W Santa Fe Drive, Sun City, AZ, 85351, USA.
Thomas G BeachBanner Sun Health Research Institute, 10515 W Santa Fe Drive, Sun City, AZ, 85351, USA.
Suzanne LesageSorbonne Université, Université Pierre et Marie Curie-Paris 06, Inserm, Centre National de la Reserche Scientifique, and Institute du Cerveau et de la Moelle épinière, Paris, France.
Douglas GalaskoAssistance Publique Hôpitaux de Paris, Hôpital de la Salpêtrière, Département de Génétique et Cytogénétique, Paris, France.
Eliezer MasliahDivision of Neurosciences and Laboratory of Neurogenetics, National Institute on Aging/NIH, Bethesda, MD, USA.
Isabel SantanaNeurology Service, University of Coimbra Hospital, Coimbra, Portugal.
Pau PastorMemory Unit, Department of Neurology, University Hospital Mutua de Terrassa, University of Barcelona, Terrassa, Barcelona, Spain.
Pentti J TienariTranslational Immunology, Research Programs Unit, Department of Neurology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Liisa MyllykangasDepartment of Pathology, University of Helsinki and HUSLAB, Helsinki University Hospital, Helsinki, Finland.
Minna OinasDepartment of Neuropathology and Neurosurgery, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
Tamas ReveszQueen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
Andrew LeesQueen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
Brad F BoeveNeurology Department, Mayo Clinic, Rochester, MN, USA.
Ronald C PetersenDepartment of Psychiatry and Department of Psychology, Mayo Clinic, Jacksonville, FL, USA.
Tanis J FermanDepartment of Psychiatry and Department of Psychology, Mayo Clinic, Jacksonville, FL, USA.
Valentina Escott-PriceUK Dementia Research Institute at Cardiff and MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK.
Neill Graff-RadfordDepartment of Neurology, Mayo Clinic, Jacksonville, FL, USA.
Nigel J CairnsDepartment of Neurology, Washington University School of Medicine, Saint Louis, MO, USA.
John C MorrisDivision of Neuroscience and Experimental Psychology, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Stuart Pickering-BrownDivision of Neuroscience and Experimental Psychology, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
David MannDivision of Neuroscience and Experimental Psychology, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Glenda HallidayNeuroscience Research Australia, Sydney, Australia and School of Medical Sciences, Faculty of Medicine, University of New South Wales, Sydney, Australia.
David J StoneGenetics and Pharmacogenomics, Merck & Co., Inc., West Point, PA, USA.
Dennis W DicksonDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
John HardyUK Dementia Research Institute at UCL and Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
Andrew SingletonLaboratory of Neurogenetics, National Institutes on Aging, NIH, Bethesda, MD, USA.
Rita GuerreiroCenter for Neurodegenerative Science, Van Andel Research Institute, Grand Rapids, Michigan, USA.
Jose BrasCenter for Neurodegenerative Science, Van Andel Research Institute, Grand Rapids, Michigan, USA. Jose.Bras@vai.org.ORCID 0000-0001-8186-0333
National Hospital for Neurology and Neurosurgery · GBUK Dementia Research Institute · GBColumbia University Irving Medical Center · USNational Institute on Aging · USUniversity of Helsinki · FIUniversity of Manchester · GBVan Andel Institute · USWinnMed · USBanner Sun Health Research Institute · USKing's College London · GBMayo Clinic in Florida · USUniversity of Oxford · GBUniversity of Pennsylvania · USUniversity of Toronto · CAUNSW Sydney · AUAmsterdam Neuroscience · NLAssistance Publique – Hôpitaux de Paris · FRBiomedical Research Networking Center on Neurodegenerative Diseases · ESInserm · FRLund University · SE
Funding
VIRUS-INDUCED BRAIN PATHOLOGYP50AG005131 · NIA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI BREWER, JAMES B · 1985 to 2018
$55.4MSUPPLEMENT TO ALZHEIMERS DISEASE PATIENT REGISTRYU01AG006786 · NIA · MAYO CLINIC ROCHESTER · PI GRAFF-RADFORD, JONATHAN, JACK, CLIFFORD R. · 1986 to 2023
$49.6MSatellite Diagnostic and Treatment Clinic CoreP50AG008702 · NIA · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI DE JAGER, PHILIP L · 1989 to 2019
$46.3MTHE PGRN/TDP-43 AXIS IN ALZHEIMER?S DISEASE AND NEURODEGENERATIONP50AG016574 · NIA · MAYO CLINIC ROCHESTER · PI BU, GUOJUN · 1999 to 2018
$36.9MUPenn ADCC Biomarker CoreP30AG010124 · NIA · UNIVERSITY OF PENNSYLVANIA · PI XIE, SHARON XIANGWEN · 1991 to 2020
$35.1MResearch Education ComponentP30AG019610 · NIA · SUN HEALTH RESEARCH INSTITUTE · PI GONZALEZ HERNANDEZ, GRACIELA · 2001 to 2020
$32.5MClinical and Translational Science AwardUL1TR000040 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2012 to 2015
$26.2MTRANSLATIONAL APPROACHES TO NEUROPROTECTION OF AXONS IN PDrP50NS038370 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI BURKE, ROBERT E · 1999 to 2014
$24.0MProject IV: "Alpha-Synuclein Strains & Diverse Synucleinopathies"P50NS053488 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI TROJANOWSKI, JOHN Q. · 2007 to 2017
$20.9MProject IV "Tackling Heterogeneity of Cognitive Trajectory in LBD"U19AG062418 · NIA · UNIVERSITY OF PENNSYLVANIA · PI LEE, VIRGINIA M · 2019 to 2023
$18.1MNeuropathology CoreP50NS072187 · NINDS · MAYO CLINIC JACKSONVILLE · PI DICKSON, DENNIS WILLIAM · 2010 to 2017
$8.7MNational Brain and Tissue Resource for Parkinson's Disease and Related DisordersU24NS072026 · NINDS · BANNER SUN HEALTH RESEARCH INSTITUTE · PI BEACH, THOMAS G · 2011 to 2015
$7.8MIntramural NIH HHS Z01 AG000951Medical Research Council G0400074Medical Research Council G0502157Medical Research Council G0701075Medical Research Council G0801418Medical Research Council G0900652Medical Research Council G0901254Medical Research Council G1100540Medical Research Council MR/L010305/1Medical Research Council MR/L016397/1Medical Research Council MR/L023784/2Medical Research Council MR/L501542/1Medical Research Council MR/N026004/1Medical Research Council MR/P005748/1Medical Research Council MR/T04604X/1NCATS NIH HHS UL1 TR000040NIA NIH HHS P30 AG010124NIA NIH HHS P30 AG019610NIA NIH HHS P50 AG005131NIA NIH HHS P50 AG008702NIA NIH HHS P50 AG016574NIA NIH HHS U01 AG006786NIA NIH HHS U19 AG062418NINDS NIH HHS P50 NS038370NINDS NIH HHS P50 NS053488NINDS NIH HHS P50 NS072187NINDS NIH HHS R01 NS060113NINDS NIH HHS R01 NS078086NINDS NIH HHS U01 NS100600NINDS NIH HHS U24 NS072026Parkinson's UK G-0907
Abstract
Dementia with Lewy bodies (DLB) is a clinically heterogeneous disorder with a substantial burden on healthcare. Despite this, the genetic basis of the disorder is not well defined and its boundaries with other neurodegenerative diseases are unclear. Here, we performed whole exome sequencing of a cohort of 1118 Caucasian DLB patients, and focused on genes causative of monogenic neurodegenerative diseases. We analyzed variants in 60 genes implicated in DLB, Alzheimer's disease, Parkinson's disease, frontotemporal dementia, and atypical parkinsonian or dementia disorders, in order to determine their frequency in DLB. We focused on variants that have previously been reported as pathogenic, and also describe variants reported as pathogenic which remain of unknown clinical significance, as well as variants associated with strong risk. Rare missense variants of unknown significance were found in APP, CHCHD2, DCTN1, GRN, MAPT, NOTCH3, SQSTM1, TBK1 and TIA1. Additionally, we identified a pathogenic GRN p.Arg493* mutation, potentially adding to the diversity of phenotypes associated with this mutation. The rarity of previously reported pathogenic mutations in this cohort suggests that the genetic overlap of other neurodegenerative diseases with DLB is not substantial. Since it is now clear that genetics plays a role in DLB, these data suggest that other genetic loci play a role in this disease.
Indexed as
AgedAged, 80 and overCerebellumCohort StudiesExome SequencingFemaleFrontal LobeHumansLewy Body DiseaseMaleMutationNeurodegenerative Diseases
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