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The National Institute on Aging Late-Onset Alzheimer's Disease Family Based Study: A resource for genetic discovery.
Reyes-Dumeyer, Dolly; Faber, Kelley; Vardarajan, Badri; Goate, Alison; Renton, Alan; Chao, Michael; Boeve, Brad; Cruchaga, Carlos; Pericak-Vance, Margaret; Haines, Jonathan L; Rosenberg, Roger; Tsuang, Debby; Sweet, Robert A; Bennett, David A; Wilson, Robert S; Foroud, Tatiana; Mayeux, Richard.
Afiliación
  • Reyes-Dumeyer D; Department of Neurology, Taub Institute for Research on Alzheimer's Disease and the Aging Brain and the Gertrude H. Sergievsky Center, Columbia University in the City of New York, New York, New York, USA.
  • Faber K; Department of Medical and Molecular Genetics, National Centralized Repository for Alzheimer's Disease and Related Dementias (NCRAD), Indiana University School of Medicine, Indianapolis, Indiana, USA.
  • Vardarajan B; Department of Neurology, Taub Institute for Research on Alzheimer's Disease and the Aging Brain and the Gertrude H. Sergievsky Center, Columbia University in the City of New York, New York, New York, USA.
  • Goate A; Department of Genetics & Genomic Sciences, Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
  • Renton A; Department of Genetics & Genomic Sciences, Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
  • Chao M; Department of Genetics & Genomic Sciences, Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
  • Boeve B; Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.
  • Cruchaga C; Department of Psychiatry, Washington University in St. Louis, St. Louis, Missouri, USA.
  • Pericak-Vance M; John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.
  • Haines JL; Department of Population & Quantitative Health Sciences and Cleveland Institute for Computational Biology, Case Western Reserve University, Cleveland, Ohio, USA.
  • Rosenberg R; Department of Neurology, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas, USA.
  • Tsuang D; GRECC VA Puget Sound, Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA.
  • Sweet RA; Departments of Psychiatry and Neurology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
  • Bennett DA; Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, Illinois, USA.
  • Wilson RS; Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, Illinois, USA.
  • Foroud T; Department of Medical and Molecular Genetics, National Centralized Repository for Alzheimer's Disease and Related Dementias (NCRAD), Indiana University School of Medicine, Indianapolis, Indiana, USA.
  • Mayeux R; Department of Neurology, Taub Institute for Research on Alzheimer's Disease and the Aging Brain and the Gertrude H. Sergievsky Center, Columbia University in the City of New York, New York, New York, USA.
Alzheimers Dement ; 18(10): 1889-1897, 2022 10.
Article en En | MEDLINE | ID: mdl-34978149
INTRODUCTION: The National Institute on Aging Late-Onset Alzheimer's Disease Family Based Study (NIA-LOAD FBS) was established to study the genetic etiology of Alzheimer's disease (AD). METHODS: Recruitment focused on families with two living affected siblings and a third first-degree relative similar in age with or without dementia. Uniform assessments were completed, DNA was obtained, as was neuropathology, when possible. Apolipoprotein E (APOE) genotypes, genome-wide single nucleotide polymorphism (SNP) arrays, and sequencing was completed in most families. RESULTS: APOE genotype modified the age-at-onset in many large families. Novel variants and known variants associated with early- and late-onset AD and frontotemporal dementia were identified supporting an international effort to solve AD genetics. DISCUSSION: The NIA-LOAD FBS is the largest collection of familial AD worldwide, and data or samples have been included in 123 publications addressing the genetic etiology of AD. Genetic heterogeneity and variability in the age-at-onset provides opportunities to investigate the complexity of familial AD.
Asunto(s)

Texto completo: 1 Base de datos: MEDLINE Asunto principal: National Institute on Aging (U.S.) / Enfermedad de Alzheimer País/Región como asunto: America do norte Idioma: En Revista: Alzheimers Dement Año: 2022 Tipo del documento: Article

Texto completo: 1 Base de datos: MEDLINE Asunto principal: National Institute on Aging (U.S.) / Enfermedad de Alzheimer País/Región como asunto: America do norte Idioma: En Revista: Alzheimers Dement Año: 2022 Tipo del documento: Article