Evidence map›Paper›PMID 30448004›Full record

ArticleNeurobiology of aging2019

A comprehensive screening of copy number variability in dementia with Lewy bodies.

Celia Kun-Rodrigues, Tatiana Orme, Susana Carmona, Dena G Hernandez, Owen A Ross, John D Eicher, Claire Shepherd, Laura Parkkinen, Lee Darwent, Michael G Heckman and 58 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurobiology of aging, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
3.4field-weighted citation impact, top 7% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

11 citing papers in PubMed, 23 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

68 authors at 20 institutions in 11 countries.

Celia Kun-RodriguesDepartment of Neurodegenerative Disease, UCL Institute of Neurology, London, UK.
Tatiana OrmeDepartment of Neurodegenerative Disease, UCL Institute of Neurology, London, UK; UK Dementia Research Institute (UK DRI) at UCL, London, UK.
Susana CarmonaDepartment of Neurodegenerative Disease, UCL Institute of Neurology, London, UK; UK Dementia Research Institute (UK DRI) at UCL, London, UK.
Dena G HernandezLaboratory of Neurogenetics, National Institutes on Aging, NIH, Bethesda, MD, USA; German Center for Neurodegenerative Diseases (DZNE), Tubingen, Germany.
Owen A RossDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
John D EicherGenetics and Pharmacogenomics, Merck Research Laboratories, Boston, MA, USA.
Claire 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 Parkinsons Disease Centre, University of Oxford, Oxford, UK.
Lee DarwentUK Dementia Research Institute (UK DRI) at UCL, London, UK; Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK.
Michael G HeckmanDivision of Biomedical Statistics and Informatics, Mayo Clinic, Jacksonville, FL, USA.
Sonja W ScholzNeurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD, USA.
Juan C TroncosoDepartment of Pathology (Neuropathology), Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Olga PletnikovaDepartment of Pathology (Neuropathology), Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Ted DawsonDepartment of Neurology, Johns Hopkins School of Medicine, Baltimore, MD, USA.
Liana RosenthalDepartment of Neurology, Johns Hopkins School of Medicine, Baltimore, MD, USA.
Olaf AnsorgeNuffield Department of Clinical Neurosciences, Oxford Parkinsons Disease Centre, University of Oxford, Oxford, UK.
Jordi ClarimonMemory Unit, Department of Neurology, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain; Centro de Investigacion Biomedica en Red en Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain.
Alberto LleoMemory Unit, Department of Neurology, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain; Centro de Investigacion Biomedica en Red en Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain.
Estrella Morenas-RodriguezMemory Unit, Department of Neurology, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain; Centro de Investigacion Biomedica en Red en Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain.
Lorraine ClarkTaub Institute for Alzheimer Disease and the Aging Brain and Department of Pathology and Cell Biology, Columbia University, New York, NY, USA.
Lawrence S HonigTaub Institute for Alzheimer Disease and the Aging Brain and Department of Pathology and Cell Biology, Columbia University, New York, NY, USA.
Karen MarderTaub Institute for Alzheimer Disease and the Aging Brain and Department of Pathology and Cell Biology, Columbia University, New York, NY, USA.
Afina LemstraDepartment of Neurology and Alzheimer Center, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, The Netherlands.
Ekaterina RogaevaTanz Centre for Research in Neurodegenerative Diseases and Department of Medicine, University of Toronto, Ontario, Canada.
Peter St George-HyslopTanz Centre for Research in Neurodegenerative Diseases and Department of Medicine, University of Toronto, Ontario, Canada; Department of Clinical Neurosciences, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
Elisabet LondosClinical Memory Research Unit, Institution of Clinical Sciences Malmo, Lund University, Lund, Sweden.
Henrik ZetterbergUK Dementia Research Institute at UCL, London UK, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK and Clinical Neurochemistry Laboratory, Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg, Molndal, Sweden.
Imelda BarberHuman Genetics, School of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK.
Anne BraaeHuman Genetics, School of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK.
Kristelle BrownHuman Genetics, School of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK.
Kevin MorganHuman Genetics, School of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK.
Claire TroakesDepartment of Basic and Clinical Neuroscience and Institute of Psychiatry, Psychology and Neuroscience, Kings College London, London, UK.
Safa Al-SarrajDepartment of Basic and Clinical Neuroscience and Institute of Psychiatry, Psychology and Neuroscience, Kings 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; Queen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK and Movement Disorders Unit, Neurology Service, Clinical Neuroscience Institute (ICN), Hospital Clinic, University of Barcelona, IDIBAPS, Barcelona, Spain.
Vivianna Van DeerlinDepartment of Pathology and Laboratory Medicine, Center for Neurodegenerative Disease Research, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.
Geidy E SerranoBanner Sun Health Research Institute, Sun City, AZ, USA.
Thomas G BeachBanner Sun Health Research Institute, Sun City, AZ, USA.
Suzanne LesageInserm U1127, CNRS UMR7225, Sorbonne Universites, Institut du Cerveau et de la Moelle epiniere, Paris, France.
Douglas GalaskoDepartment of Neurosciences, University of California, San Diego, La Jolla, CA, USA; Veterans Affairs San Diego Healthcare System, La Jolla, CA, USA.
Eliezer MasliahDepartment of Neurosciences, University of California, San Diego, La Jolla, CA, USA; Department of Pathology, University of California, San Diego, La Jolla, CA, USA.
Isabel SantanaNeurology Service, University of Coimbra Hospital, Coimbra, Portugal.
Pau PastorMemory Unit, Department of Neurology, University Hospital Mutua de Terrassa, University of Barcelona, and Fundacio de Docencia I Recerca Mutua de Terrassa, Terrassa, Barcelona, Spain. Centro de Investigacion Biomedica en Red Enfermedades Neurdegenerativas (CIBERNED), Madrid, Spain.
Monica Diez-FairenMemory Unit, Department of Neurology, University Hospital Mutua de Terrassa, University of Barcelona, and Fundacio de Docencia I Recerca Mutua de Terrassa, Terrassa, Barcelona, Spain. Centro de Investigacion Biomedica en Red Enfermedades Neurdegenerativas (CIBERNED), Madrid, Spain.
Miquel AguilarMemory Unit, Department of Neurology, University Hospital Mutua de Terrassa, University of Barcelona, and Fundacio de Docencia I Recerca Mutua de Terrassa, Terrassa, Barcelona, Spain. Centro de Investigacion Biomedica en Red Enfermedades Neurdegenerativas (CIBERNED), Madrid, Spain.
Pentti J TienariMolecular Neurology, Research Programs Unit, University of Helsinki, Department of Neurology, Helsinki University Hospital, Helsinki, Finland.
Liisa MyllykangasDepartment of Pathology, University of Helsinki and 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 PetersenNeurology Department, Mayo Clinic, Rochester, MN, USA.
Tanis J FermanDepartment of Psychiatry and Department of Psychology, Mayo Clinic, Jacksonville, FL, USA.
Valentina Escott-PriceMRC 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 CairnsKnight Alzheimers Disease Research Center, Department of Neurology, Washington University School of Medicine, Saint Louis, MO, USA.
John C MorrisKnight Alzheimers Disease Research Center, Department of Neurology, Washington University School of Medicine, Saint Louis, MO, USA.
Stuart Pickering-BrownInstitute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.
David MannInstitute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.
Glenda M HallidayNeuroscience Research Australia, Sydney, Australia and School of Medical Sciences, Faculty of Medicine, University of New South Wales, Sydney, Australia; Brain and Mind Centre, Sydney Medical School, The University of Sydney, Sydney, Australia.
John HardyDepartment of Neurodegenerative Disease, UCL Institute of Neurology, London, UK.
John Q TrojanowskiDepartment of Pathology and Laboratory Medicine, Center for Neurodegenerative Disease Research, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.
Dennis W DicksonDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Andrew SingletonLaboratory of Neurogenetics, National Institutes on Aging, NIH, Bethesda, MD, USA.
David J StoneGenetics and Pharmacogenomics, Merck and Co, West Point, PA, USA.
Rita GuerreiroDepartment of Neurodegenerative Disease, UCL Institute of Neurology, London, UK; UK Dementia Research Institute (UK DRI) at UCL, London, UK; Department of Medical Sciences and Institute of Biomedicine, iBiMED, University of Aveiro, Aveiro, Portugal.
Jose BrasDepartment of Neurodegenerative Disease, UCL Institute of Neurology, London, UK; UK Dementia Research Institute (UK DRI) at UCL, London, UK; Department of Medical Sciences and Institute of Biomedicine, iBiMED, University of Aveiro, Aveiro, Portugal. Electronic address: j.bras@ucl.ac.uk.
UK Dementia Research Institute · GBJacksonville College · USJohns Hopkins University · USNational Hospital for Neurology and Neurosurgery · GBBiomedical Research Networking Center on Neurodegenerative Diseases · ESUniversity of Nottingham · GBColumbia University · USUniversitat Autònoma de Barcelona · ESUniversity of Helsinki · FIJohn Radcliffe Hospital · GBKing's College London · GBMayo Clinic · USMerck & Co., Inc., Rahway, NJ, USA (United States) · USThe University of Sydney · AUUniversity of California San Diego · USUniversity of Manchester · GBUniversity of Pennsylvania · USUniversity of Toronto · CAWashington University in St. Louis · USAmsterdam Neuroscience · NL

Funding

Smartphone-Based "Burst" Cognitive AssessmentsP01AG003991 · NIA · WASHINGTON UNIVERSITY · PI Tammie Lee Smith Benzinger · 1985 to 2026
$69.5M
VIRUS-INDUCED BRAIN PATHOLOGYP50AG005131 · NIA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI BREWER, JAMES B · 1985 to 2018
$55.4M
WASHINGTON UNIVERSITY ALZHEIMERS DISEASE RESEARCH CENTERP50AG005681 · NIA · WASHINGTON UNIVERSITY · PI MORRIS, JOHN · 1985 to 2019
$52.1M
SUPPLEMENT TO ALZHEIMERS DISEASE PATIENT REGISTRYU01AG006786 · NIA · MAYO CLINIC ROCHESTER · PI GRAFF-RADFORD, JONATHAN, JACK, CLIFFORD R. · 1986 to 2023
$49.6M
Satellite Diagnostic and Treatment Clinic CoreP50AG008702 · NIA · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI DE JAGER, PHILIP L · 1989 to 2019
$46.3M
Understanding Mechanisms of a-synuclein pathologyP50NS038377 · NINDS · JOHNS HOPKINS UNIVERSITY · PI KO, HANSEOK · 1998 to 2019
$38.8M
'T V ASSESSMENT - MEMORY DISORDERED PATIENTS'P50AG005146 · NIA · JOHNS HOPKINS UNIVERSITY · PI HUGANIR, RICHARD L · 1985 to 2019
$37.6M
THE PGRN/TDP-43 AXIS IN ALZHEIMER?S DISEASE AND NEURODEGENERATIONP50AG016574 · NIA · MAYO CLINIC ROCHESTER · PI BU, GUOJUN · 1999 to 2018
$36.9M
UPenn ADCC Biomarker CoreP30AG010124 · NIA · UNIVERSITY OF PENNSYLVANIA · PI XIE, SHARON XIANGWEN · 1991 to 2020
$35.1M
Clinical and Translational Science AwardUL1TR000040 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2012 to 2015
$26.2M
TRANSLATIONAL APPROACHES TO NEUROPROTECTION OF AXONS IN PDrP50NS038370 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI BURKE, ROBERT E · 1999 to 2014
$24.0M
Project IV: "Alpha-Synuclein Strains & Diverse Synucleinopathies"P50NS053488 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI TROJANOWSKI, JOHN Q. · 2007 to 2017
$20.9M
Intramural NIH HHS Z01 AG000951Intramural NIH HHS ZIA NS003154Medical Research Council MR/L010305/1Medical Research Council MR/L016397/1Medical Research Council MR/L022656/1Medical Research Council MR/L023784/2NCATS NIH HHS UL1 TR000040NCI NIH HHS P01 CA089392NCI NIH HHS P50 CA084724NHGRI NIH HHS HHSN268200782096CNHGRI NIH HHS U01 HG004446NIA NIH HHS P01 AG003991NIA NIH HHS P30 AG010124NIA NIH HHS P50 AG005131NIA NIH HHS P50 AG005146NIA NIH HHS P50 AG005681NIA NIH HHS P50 AG008702NIA NIH HHS P50 AG016574NIA NIH HHS U01 AG006786NIDA NIH HHS P50 DA019706NINDS NIH HHS P50 NS038370NINDS NIH HHS P50 NS038377NINDS NIH HHS P50 NS053488NINDS NIH HHS P50 NS072187NINDS NIH HHS R01 NS060113NINDS NIH HHS R01 NS078086NINDS NIH HHS U01 NS100600Parkinson's UK J-0901Wellcome Trust
6 · The paper itself

Abstract

The role of genetic variability in dementia with Lewy bodies (DLB) is now indisputable; however, data regarding copy number variation (CNV) in this disease has been lacking. Here, we used whole-genome genotyping of 1454 DLB cases and 1525 controls to assess copy number variability. We used 2 algorithms to confidently detect CNVs, performed a case-control association analysis, screened for candidate CNVs previously associated with DLB-related diseases, and performed a candidate gene approach to fully explore the data. We identified 5 CNV regions with a significant genome-wide association to DLB; 2 of these were only present in cases and absent from publicly available databases: one of the regions overlapped LAPTM4B, a known lysosomal protein, whereas the other overlapped the NME1 locus and SPAG9. We also identified DLB cases presenting rare CNVs in genes previously associated with DLB or related neurodegenerative diseases, such as SNCA, APP, and MAPT. To our knowledge, this is the first study reporting genome-wide CNVs in a large DLB cohort. These results provide preliminary evidence for the contribution of CNVs in DLB risk.

Indexed as

Adaptor Proteins, Signal TransducingAged, 80 and overDNA Copy Number VariationsFemaleGenetic Predisposition to DiseaseGenomeGenome-Wide Association StudyHumansLewy Body DiseaseMaleMembrane ProteinsOncogene ProteinsPolymorphism, Single NucleotideAdaptor Proteins, Signal TransducingMembrane ProteinsOncogene ProteinsCopy number variantsDementia with Lewy bodiesGenome-wideMAPTSNCA

Identifiers

PMID30448004
PMCPMC6541211
OpenAlexW2898524268

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Read underepoch 390

Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.