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<p>The Dominantly Inherited Alzheimer Network Observational Study (DIAN Obs) is a longitudinal, global cohort study investigating brain aging and autosomal dominant Alzheimer’s disease (ADAD), a rare monogenic form of Alzheimer’s disease (AD). Established in 2008 with support from the National Institute on Aging (NIA), DIAN Obs is designed to collect comprehensive and uniform data with the aim to characterize brain biology and clinical trajectory of individuals at risk for ADAD. Mutations in the amyloid protein precursor (<i>APP</i>), presenilin 1 (<i>PSEN1</i>), or presenilin 2 (<i>PSEN2</i>) genes cause ADAD with virtually full penetrance and a predictable age at symptomatic onset. Participants, both mutation carriers and non-carriers from affected families, undergo longitudinal clinical and cognitive assessments, neurologic and physical examinations, structural and functional neuro-imaging, and amyloid and tau positron emission tomography (PET). Biospecimens include cerebrospinal fluid, plasma, serum, and whole blood for biochemical, genetic and multi-omic analyses, with brain donation upon death. This dataset enables one of the most detailed longitudinal examinations of the human brain across the continuum from presymptomatic to symptomatic AD. The extensive DIAN Obs data and biospecimen repository provides a globally accessible resource to advance understanding of AD pathophysiology, aging, and the development of preventive and therapeutic interventions.</p>

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15 years of longitudinal genetic, clinical, cognitive, imaging, and biochemical measures in DIAN

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年2月16日

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  • Alisha J. Daniels,
  • Eric McDade,
  • Jorge J. Llibre-Guerra,
  • Chengjie Xiong,
  • Richard J. Perrin,
  • Laura Ibanez,
  • Charlene Supnet-Bell,
  • Carlos Cruchaga,
  • Alison Goate,
  • Alan E. Renton,
  • Tammie L. S. Benzinger,
  • Brian A. Gordon,
  • Jason Hassenstab,
  • Celeste Karch,
  • Allan Levey,
  • John C. Morris,
  • Virginia Buckles,
  • Ricardo F. Allegri,
  • Patricio Chrem,
  • Sarah B. Berman,
  • Jasmeer P. Chhatwal,
  • Martin R. Farlow,
  • Nick C. Fox,
  • Gregory S. Day,
  • Takeshi Ikeuchi,
  • Mathias Jucker,
  • Johannes Levin,
  • Jae-Hong Lee,
  • David Aguillon,
  • Leonel Takada,
  • Ana Luisa Sosa,
  • Ralph Martins,
  • Hiroshi Mori,
  • James M. Noble,
  • Stephen Salloway,
  • Edward Huey,
  • Raquel Sánchez-Valle,
  • Peter R. Schofield,
  • Jee Hoon Roh,
  • Randall J. Bateman,
  • Tammie L. S. Benzinger,
  • David M. Holtzman,
  • Anne M. Fagan,
  • Erin Franklin,
  • Xiong Xu,
  • Ruijin Lu,
  • Guoqiao Wang,
  • Yan Li,
  • Emily Gremminger,
  • Laura Courtney,
  • Gina Jerome,
  • Elizabeth Herries,
  • Jennifer Stauber,
  • Bryce Baker,
  • Matthew Minton,
  • Danielle M. Picarello,
  • Russ Hornbeck,
  • Allison Chen,
  • Charles Chen,
  • Shaney Flores,
  • Nelly Joseph-Mathurin,
  • Steve Jarman,
  • Kelley Jackson,
  • Sarah Keefe,
  • Deborah Koudelis,
  • Parinaz Massoumzadeh,
  • Austin McCullough,
  • Nicole McKay,
  • Joyce Nicklaus,
  • Christine Pulizos,
  • Qing Wang,
  • Edita Sabaredzovic,
  • Hunter Smith,
  • Jalen Scott,
  • Ashlee Simmons,
  • Jacqueline Rizzo,
  • Jennifer Sullivan,
  • Sarah Stout,
  • Andrew J. Aschenbrenner,
  • Jacob Marsh,
  • Nicolas Barthelemy,
  • Jinbin Xu,
  • Erik C. B. Johnson,
  • Nicholas T. Seyfried,
  • Ezequiel Surace,
  • Silvia Vazquez,
  • Snezana Ikonomovic,
  • Neelesh K. Nadkarni,
  • David M. Cash,
  • Natalie S. Ryan,
  • Neill R. Graff-Radford,
  • Kensaku Kasuga,
  • Christoph Laske,
  • Anna Hofmann,
  • Elke Kuder-Buletta,
  • Susanne Graber-Sultan,
  • Ulrike Obermueller,
  • Yvonne Roedenbeck,
  • Jonathan Voglein,
  • Francisco Lopera,
  • Yudy Milena,
  • Laura Ramirez,
  • William S. Brooks,
  • Jacob A. Bechara,
  • Yoshiki Niimi,
  • Pedro Rosa-Neto,
  • John Ringman,
  • Colin Masters

摘要

The Dominantly Inherited Alzheimer Network Observational Study (DIAN Obs) is a longitudinal, global cohort study investigating brain aging and autosomal dominant Alzheimer’s disease (ADAD), a rare monogenic form of Alzheimer’s disease (AD). Established in 2008 with support from the National Institute on Aging (NIA), DIAN Obs is designed to collect comprehensive and uniform data with the aim to characterize brain biology and clinical trajectory of individuals at risk for ADAD. Mutations in the amyloid protein precursor (APP), presenilin 1 (PSEN1), or presenilin 2 (PSEN2) genes cause ADAD with virtually full penetrance and a predictable age at symptomatic onset. Participants, both mutation carriers and non-carriers from affected families, undergo longitudinal clinical and cognitive assessments, neurologic and physical examinations, structural and functional neuro-imaging, and amyloid and tau positron emission tomography (PET). Biospecimens include cerebrospinal fluid, plasma, serum, and whole blood for biochemical, genetic and multi-omic analyses, with brain donation upon death. This dataset enables one of the most detailed longitudinal examinations of the human brain across the continuum from presymptomatic to symptomatic AD. The extensive DIAN Obs data and biospecimen repository provides a globally accessible resource to advance understanding of AD pathophysiology, aging, and the development of preventive and therapeutic interventions.