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  • LBD

LBD

  • Study Overview
  • Goals and Objectives
  • Study Specific Data Contribution
  • Inclusion and Exclusion Criteria
  • Study Protocol and Details
  • Acknowledgements

LBD Study Overview

Genome Sequencing in Lewy Body Dementia and Neurologically Healthy Controls: A Resource for the Research Community. These data were generated by the International LBD Genomics Consortium (iLBDGC), under the co-directorship by Dr. Bryan J. Traynor and Dr. Sonja W. Scholz from the Intramural Research Program of the U.S. National Institutes of Health. For a complete list of contributors, please see Acknowledgements section.

Total Participants (Cohort records that met the AMP PD minimum clinical data criteria):

4,579

AMP PD Designation:

Data from the LBD cohort is designated with the prefix  “LB”  in the AMP PD Portal.  LBD data in the AMP PD portal includes: TBD

Additional Study Information: 

Genome sequencing analysis identifies new loci associated with Lew body dementia and provides insights into the complex genetic architecture.

LBD Goals and Objectives

  1. To extend modern gene discovery methods to Lewy body dementia (LBD)
  2. To generate a genomic resource for the dementia research community

 

Study Specific Data Contribution

The following variables and associated data are specific to the LBD case-control study and are available for analysis as part of AMP PD:
 

  • Individual-level CRAM files for all study participants
  • De-identified demographic information for all study participants

LBD Inclusion and Exclusion Criteria

Inclusion Criteria

  1. Male and female participants aged 18 or over
  2. European ancestry
  3. Pathological diagnosis of Dementia with Lewy bodie (defined by McKeith consensus criteria) OR
  4. Clinically diagnosed probable Dementia with Lewy bodies (defined by McKeith consensus criteria) OR
  5. Clinically diagnosed probable Parkinson’s disease dementia (defined by Emre consensus criteria)

Exclusion Criteria

  1. Concurrent other neurological conditions, such as stroke, severe microvascular disease or systemic disorders that could mimic Lewy body dementia or affect the interpretation of the study
  2. Non-European ancestry
     

 

LBD Study Protocol

The study details have been described elsewhere (please see bioRxiv 2020.07.06.185066; doi: https://doi.org/10.1101/2020.07.06.185066).

Contributors

(per country, in alphabetical order, List as provided June 2020)

United States of America

  • Yevgeniya Abramzon, B.Sc. (Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, 20892, USA)
  • Sarah Ahmed, B.Sc. (Neurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, Bethesda, MD, 20892, USA)
  • Camille Alba, Ph.D. (Department of Anatomy, Physiology and Genetics, Physiology and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, 20814, USA)
  • Marilyn S. Albert, Ph.D. (Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD, 21287, USA)
  • Dagmar Bacikova, Ph.D. (Department of Anatomy, Physiology and Genetics, Physiology and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, 20814, USA)
  • Matthew J. Barrett, M.D. (Department of Neurology, University of Virginia School of Medicine, Charlottesville, VA, 22903, USA)
  • Thomas G. Beach, M.D., Ph.D. (Civin Laboratory for Neuropathology, Banner Sun Health Research Institute, Sun City, AZ, 85006, USA)
  • David A. Bennett, M.D. (Rush Alzheimer's Disease Center, Rush University, Chicago, IL, 60612, USA)
  • Lilah M. Besser, Ph.D., M.Ph. (Institute for Human Health and Disease Intervention, Florida Atlantic University, Boca Raton, FL, 33431, USA)
  • Eileen H. Bigio, M.D. (Mesulam Center for Cognitive Neurology and Alzheimer's Disease, Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA)
  • Bradley F. Boeve, M.D. (Center for Sleep Medicine, Mayo Clinic, Rochester, MN, 55905, USA)
  • Ryan C. Bohannan, B.Sc. (Department of Neurobiology and Behavior, University of California Irvine, Irvine, CA, 92697, USA)
  • Chad A. Caraway, Ph.D. (Institute for Memory Impairments and Neurological Disorders, University of California Irvine, Irvine, CA, 92697, USA)
  • Jose-Alberto Palma, M.D., Ph.D. (Department of Neurology, New York University School of Medicine, New York, NY, 10016, USA)
  • Ruth Chia, Ph.D. (Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, 20892, USA)
  • Clifton L. Dalgard, Ph.D. (Department of Anatomy, Physiology and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, 20814, USA; The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, MD, 20814, USA)
  • Dennis Dickson, M.D. (Department of Neuroscience, Mayo Clinic, Jacksonville, FL, 32224, USA)
  • Jinhui Ding, Ph.D. (Computational Biology Core, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, 20892, USA)
  • Kelley Faber, M.Sc. (Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA)
  • Tanis Ferman, Ph.D. (Department of Psychiatry and Psychology, Mayo Clinic, Jacksonville, FL, 32224, USA)
  • Luigi Ferrucci, M.D., Ph.D. (Longitudinal Studies Section, National Institute on Aging, Baltimore, MD, 21224, USA)
  • Margaret E. Flanagan, M.D. (Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA)
  • Tatiana M. Foroud, M.D. (Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA)
  • Bernardino Ghetti, M.D. (Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, 46202, USA)
  • J. Raphael Gibbs, Ph.D. (Computational Biology Core, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, 20892, USA)
  • Alison Goate, Ph.D. (Nash Family Department of Neuroscience, Department of Genetics and Genomic Sciences, and Department of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA)
  • David Goldstein, M.D. (Clinical Neurocardiology Section, National Institute of Neurological Disorders and Stroke, Bethesda, MD, 20892, USA)
  • Neill R. Graff-Radford, M.D. (Department of Neurology, Mayo Clinic Florida, 4500 San Pablo Road South, Jacksonville, FL, 32224, USA)
  • Heng-Chen Hu, Ph.D. (Department of Anatomy, Physiology and Genetics, Physiology and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, 20814, USA)
  • Daniel Hupalo, Ph.D. (Department of Anatomy, Physiology and Genetics, Physiology and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, 20814, USA)
  • Scott M. Kaiser, M.B.A. (Department of Neuropathology, Indiana University School of Medicine, Indianapolis, IN, 46202, USA)
  • Horacio Kaufmann, M.D. (Department of Neurology, New York University School of Medicine, New York, NY, 10016, USA)
  • Ronald C. Kim, M.D. (Department of Neuropathology, School of Medicine, University of California Irvine, Irvine, CA, 92697, USA)
  • Gregory Klein (Rush Alzheimer's Disease Center, Rush University, Chicago, IL, 60612, USA)
  • Walter Kukull, Ph.D. (National Alzheimer's Coordinating Center (NACC), University of Washington, Seattle, WA, 98195, USA)
  • Amanda Kuzma, M.Sc. (Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA)
  • James Leverenz, M.D. (Cleveland Lou Ruvo Center for Brain Health, Neurological Institute, Cleveland Clinic, Cleveland, OH, 44195, USA)
  • Grisel Lopez, M.D. (Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, 20892, USA)
  • Qinwen Mao, M.D., Ph.D. (Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA)
  • Elisa Martinez-McGrath, Ph.D. (Department of Anatomy, Physiology and Genetics, Physiology and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, 20814, USA)
  • Eliezer Masliah, M.D. (Molecular Neuropathology Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, 20892, USA)
  • Ed Monuki, M.D., Ph.D. (Department of Pathology & Laboratory Medicine, School of Medicine, University of California Irvine, Irvine, CA, 92697, USA)
  • Kathy L. Newell, M.D. (Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, KS, 66160, USA)
  • Lucy Norcliffe-Kaufmann, Ph.D. (Department of Neurology, New York University School of Medicine, New York, NY, 10016, USA)
  • Matthew Perkins, B.Sc. (Michigan Brain Bank, University of Michigan Medical School, Ann Arbor, MI, 48109, USA)
  • Olga Pletnikova, M.D. (Department of Pathology [Neuropathology], Johns Hopkins University Medical Center, Baltimore, MD, 21287, USA)
  • Alan E. Renton, Ph.D. (Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA)
  • Susan M. Resnick, M.D. (Laboratory of Behavioral Neuroscience, National Institute on Aging, Baltimore, MD, 21224, USA)
  • Owen A. Ross, Ph.D. (Department of Neuroscience & Department of Clinical Genomics, Mayo Clinic Florida, 4500 San Pablo Road South, Jacksonville, FL, 32224, USA)
  • Marya S. Sabir, B.Sc. (Neurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, Bethesda, MD, 20892, USA)
  • Clemens R. Scherzer, M.D. (Precision Neurology Program, Brigham & Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA)
  • Sonja W. Scholz, M.D., Ph.D. (Neurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, Bethesda, MD, 20892, USA; Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD, 21287, USA)
  • Geidy Serrano, Ph.D. (Civin Laboratory for Neuropathology, Banner Sun Health Research Institute, Sun City, AZ, 85006, USA)
  • Vikram Shakkotai, M.D., Ph.D. (Department of Neurology, University of Michigan Medical School, Ann Arbor, MI, 48109, USA)
  • Ellen Sidransky, M.D. (Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, 20892, USA)
  • Andrew B. Singleton, Ph.D. (Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, 20892, USA)
  • Toshiko Tanaka, Ph.D. (Longitudinal Studies Section, National Institute on Aging, Baltimore, MD, 21224, USA)
  • Nahid Tayebi, Ph.D. (Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, 20892, USA)
  • Bryan J. Traynor, M.D., Ph.D. (Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, 20892, USA; Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD, 21287, USA)
  • Juan C. Troncoso, M.D. (Department of Pathology [Neuropathology], Johns Hopkins University Medical Center, Baltimore, MD, 21287, USA)
  • Coralie Viollet, Ph.D. (Department of Anatomy, Physiology and Genetics, Physiology and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, 20814, USA)
  • Ronald L. Walton, B.Sc. (Department of Neuroscience, Mayo Clinic Florida, Jacksonville, FL, 32224, USA)
  • Randy Woltjer, M.D., Ph.D. (Department of Neurology, Oregon Health & Sciences University, Portland, OR, 97239, USA)
  • Zbigniew K. Wszolek, M.D. (Department of Neurology, Mayo Clinic Florida, 4500 San Pablo Road South, Jacksonville, FL, 32224, USA)

Canada

  • Sandra E. Black, M.D. (Institute of Medical Science, Faculty of Medicine, University of Toronto, 1 King’s College Circle, Room 2374, Toronto, ON, M5S 1A8, Canada; Division of Neurology, Department of Medicine, University of Toronto, 27 King's College Circle, Toronto, ON, M5S 1A1, Canada; Heart and Stroke Foundation Canadian Partnership for Stroke Recovery, Sunnybrook Health Sciences Centre, University of Toronto, 1 King’s College Circle, Room 2374, Toronto, ON, M5S 1A8, Canada; Hurvitz Brain Sciences Research Program, Sunnybrook Research Institute, University of Toronto, 2075 Bayview Avenue, Toronto, ON, M4N 3M5, Canada; LC Campbell Cognitive Neurology Research Unit, Sunnybrook Research Institute, University of Toronto, 2075 Bayview Avenue, Toronto, ON, M4N 3M5, Canada)
  • Ziv Gan-Or, M.D., Ph.D. (Montreal Neurological Institute and Hospital, Department of Neurology & Neurosurgery, McGill University, 3801 University Street, Montreal, QC, H3A 2B4, Canada)
  • Julia Keith, M.D. (Department of Anatomical Pathology, Sunnybrook Health Sciences Centre, University of Toronto, 1 King’s College Circle, Room 2374, Toronto, ON, M5S 1A8, Canada)
  • Mario Masellis, M.D., Ph.D. (Cognitive & Movement Disorders Clinic, Sunnybrook Health Sciences Centre, University of Toronto, 1 King’s College Circle, Room 2374, Toronto, ON, M5S 1A8, Canada; Department of Medicine, Division of Neurology, University of Toronto, Toronto, ON, M5S 1A8, Canada; Hurvitz Brain Sciences Research Program, Sunnybrook Research Institute, University of Toronto, Toronto, ON, M5S 1A8, Canada; LC Campbell Cognitive Neurology Research Unit, Sunnybrook Research Institute, University of Toronto, Toronto, ON, M5S 1A8, Canada)
  • Ekaterina Rogaeva, Ph.D. (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 1 King's College Circle, Room 2111, Toronto, ON, M5S 1A8, Canada)

United Kingdom

  • Dag Aarsland, M.D. (Department of Old Age Psychiatry, Institute of Psychiatry, Psychology and Neuroscience [IoPPN], King's College London, DeCrespigny Park, London, SE5 8AF, UK)
  • Safa Al-Sarraj, M.D., Ph.D. (Department of Clinical Neuropathology and London Neurodegenerative Diseases Brain Bank, Institute of Psychiatry, Psychology and Neuroscience [IoPPN], King’s College Hospital and King's College London, DeCrespigny Park, London, SE5 8AF, UK)
  • Johannes Attems, M.D. (Mental Health, Dementia and Neurodegeneration, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, NE4 5PL, UK)
  • Raffaele Ferrari, Ph.D. (Department of Molecular Neuroscience, Institute of Neurology, University College London, London, WC1B 5EH, UK)
  • Steve Gentleman, M.D. (Neuropathology Unit, Division of Brain Sciences, Department of Medicine, Imperial College London, London, W12 0NN, UK)
  • John A. Hardy, Ph.D. (Department of Neurodegenerative Disease, Reta Lila Weston Laboratories, Queen Square Genomics, UCL Dementia Research Institute, London WC1E 6BT, UK)
  • Angela K. Hodges, Ph.D. (Department of Old Age Psychiatry, Institute of Psychiatry, Psychology and Neuroscience [IoPPN], King's College London, Maurice Wohl Clinical Neuroscience Institute, London, SE5 9NU, UK)
  • Seth Love, M.D. (Dementia Research Group, School of Clinical Sciences, University of Bristol, Bristol, BS10 5NB, UK)
  • Ian McKeith, M.D. (Mental Health, Dementia and Neurodegeneration, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, NE4 5PL, UK)
  • Christopher M. Morris, Ph.D. (Mental Health, Dementia and Neurodegeneration, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, NE4 5PL, UK)
  • Huw R. Morris, M.D., Ph.D. (Department of Molecular Neuroscience, Institute of Neurology, University College London, London, WC1B 5EH, UK; Department of Clinical and Movement Neuroscience, Royal Free Campus UCL Institute of Neurology, University College London, London, NW3 2PF, UK)
  • Laura Palmer, Ph.D. (South West Dementia Brain Bank, Bristol Medical School, University of Bristol, Bristol, BS10 5NB, UK)
  • Stuart Pickering-Brown, Ph.D. (Division of Neuroscience and Experimental Psychology, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, M13 9PT, UK)
  • Regina H. Reynolds, M.Sc. (NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK; Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1E 6BT, UK; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK)
  • Mina Ryten, M.D., Ph.D. (NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK; Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1E 6BT, UK)
  • Alan J. Thomas, M.B.B.S., Ph.D. (Mental Health, Dementia and Neurodegeneration, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, NE4 5PL, UK)
  • Bension S. Tilley, M.B.B.S., Ph.D. (Neuropathology Unit, Division of Brain Sciences, Department of Medicine, Imperial College London, London, W12 0NN, UK)
  • Claire Troakes, Ph.D. (Department of Old Age Psychiatry, Department of Basic and Clinical Neuroscience, King's College London, DeCrespigny Park, London, SE5 8AF, UK)

Republic of Ireland

  • Francesca Brett, M.D. (Dublin Brain Bank, Neuropathology Department, Beaumont Hospital, Dublin, D2, Ireland)

France

  • Alexis Brice, M.D. (Paris Brain Institute, Paris Brain Institute, Sorbonne Universites, 47, boulevard de l’Hôpital, Paris, CS 21 414 – 75646, France)
  • Charles Duyckaerts, M.D. (Paris Brain Institute, Paris Brain Institute, Sorbonne Universites, 47, boulevard de l’Hôpital, Paris, CS 21 414 – 75646, France)
  • Suzanne Lesage, Ph.D. (Paris Brain Institute, ICM, Sorbonne Universites, 47, boulevard de l’Hôpital, Paris, CS 21 414 – 75646, France)

Italy

  • Maura Brunetti, M.Sc. (Rita Levi Montalcini Department of Neuroscience, University of Turin, Turin, 10126, Italy)
  • Andrea Calvo, M.D. (Rita Levi Montalcini Department of Neuroscience, University of Turin, Turin, 10126, Italy)
  • Antonio Canosa, M.D. (Rita Levi Montalcini Department of Neuroscience, University of Turin, Turin, 10126, Italy)
  • Adriano Chiò, M.D. (Rita Levi Montalcini Department of Neuroscience, University of Turin, Turin, 10126, Italy; Institute of Cognitive Sciences and Technologies, C.N.R., Via S. Martino della Battaglia, 44, Rome, 00185, Italy, Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Corso Bramante, 88, Turin, 10126, Italy)
  • Gianluca Floris, M.D. (Department of Neurology, University Hospital of Cagliari, Via Ospedale, 54, Cagliari, 09124, Italy)
  • Giancarlo Logroscino, M.D., Ph.D. (Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari "Aldo Moro", Bari, 70121, Italy)
  • Chiara Zecca, B.Sc. (Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari "Aldo Moro", Bari, 70121, Italy)
  • Jordi Clarimon, Ph.D. (Universitat Autònoma de Barcelona, Carrer de Sant Quintí, 77-79, Barcelona, 08041, Spain, and Movement Disorders Units, Department of Neurology, University Hospital Mutua de Terrassa, Barcelona, 08221, Spain)
  • Monica Diez-Fairen, M.Sc. (Memory and Movement Disorders Units, Department of Neurology, University Hospital Mutua de Terrassa, 08221 Barcelona, Spain)
  • Juan Fortea, M.D., Ph.D. (Universitat Autònoma de Barcelona, Carrer de Sant Quintí, 77-79, Barcelona, 08041, Spain, and Movement Disorders Units, Department of Neurology, University Hospital Mutua de Terrassa, Barcelona, 08221, Spain)
  • Isabel González-Aramburu, M.D., Ph.D. (Neurology Service, University Hospital Marqués de Valdecilla-IDIVAL-UC, Santander, 39011, Spain)
  • Jon Infante, M.D., Ph.D. (Neurology Service, University Hospital Marqués de Valdecilla-IDIVAL-UC, Santander, 39011, Spain)
  • Carmen Lage, M.D. (Neurology Service, University Hospital Marqués de Valdecilla-IDIVAL-UC, Santander, 39011, Spain)
  • Alberto Lleó, M.D., Ph.D. (Universitat Autònoma de Barcelona, Carrer de Sant Quintí, 77-79, Barcelona, 08041, Spain, and Movement Disorders Units, Department of Neurology, University Hospital Mutua de Terrassa, Barcelona, 08221, Spain)
  • Pau Pastor, M.D., Ph.D. (Memory and Movement Disorders Units, Department of Neurology, University Hospital Mutua de Terrassa, 08221 Barcelona, Spain)
  • Laura Porcel-Molina, M.D., Ph.D. (Neurological Tissue Bank, Biobanc-Hospital Clinic - IDIBAPS, C/ Centre Esther Koplowitz, Barcelona, 08036, Spain)
  • Eloy Rodríguez-Rodríguez, M.D., Ph.D. (Neurology Service, University Hospital Marqués de Valdecilla-IDIVAL-UC, Santander, 39011, Spain)
  • Pascual Sanchez-Juan, M.D., Ph.D. (Neurology Service, University Hospital Marqués de Valdecilla-IDIVAL-UC, Santander, 39011, Spain)

Luxembourg

  • Rejko Krüger, M.D. (Luxembourg Center for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg, L-4362, Luxembourg; Luxembourg Institute of Health (LIH), University of Luxembourg, Esch-sur-Alzette, Luxembourg, L-4362, Luxembourg; Centre Hospitalier de Luxembourg (CHL), University of Luxembourg, Esch-sur-Alzette, Luxembourg, L-4362, Luxembourg)
  • Patrick May, Ph.D. (Luxembourg Center for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg, L-4362, Luxembourg)

Greece

  • Georgia Xiromerisiou, M.D., Ph.D. (Department of Neurology, University Hospital of Larissa, University of Thessalia, Mezourlo, Larissa, 41110, Greece)

 

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