Brain Volumetric Trajectories in Down Syndrome and Autosomal Dominant Alzheimer Disease

  • Published on 05/07/2025
  •  Reading time: 4 min.

James Tyler Kennedy 1, Julie K. Wisch 1, Brian A. Gordon 2, Anna H. Boerwinkle 1, Tammie L.S. Benzinger 3, William E Klunk 4, Michael Rafii 5, Sid E. O'Bryant 6, Julie C Price 7, Michael A. Yassa 8, Mithra Sathishkumar 8, Liv McMillan 8, Adam M. Brickman 9, Patrick J. Lao 10, Charles M Laymon 11, Sharon J. Krinsky‐McHale 12, Florence Lai 13, H. Diana Rosas 7, Sigan L Hartley 14, Shahid Zaman 15, Ira T. Lott 8, Joseph H. Lee 16, Ricardo Allegri 17, Sarah Berman 4, Jasmeer P. Chhatwal 7,18, Helena C Chui 19, Carlos Cruchaga 20, Martin R. Farlow 21, Gregory S Day 22, Jae‐Hong Lee 23, Johannes Levin 24, Ralph N Martins 25, Hiroshi Mori 26, Richard J. Perrin 3, Stephen Salloway 27, Raquel Sanchez‐Valle 28, Peter W. Schofield 29, Chengjie Xiong 30, Jason J. Hassenstab 31, Eric McDade 32, Randall J. Bateman 3, Benjamin L Handen 4, Elizabeth Head 33, Nicole Schupf 9, Mark Mapstone 8, Bradley T. Christian 14, Beau Ances 1, Dominantly Inherited Alzheimer Network and the Alzheimer's Biomarker Consortium‐Down Syndrome

1 Washington University in St. Louis School of Medicine, St. Louis, MO USA
2 Department of Radiology, Washington University School of Medicine, Saint Louis, MO USA
3 Washington University in St. Louis, St. Louis, MO USA
4 University of Pittsburgh, Pittsburgh, PA USA
5 Alzheimer's Therapeutic Research Institute, San Diego, CA USA
6 University of North Texas Health Science Center, Fort Worth, TX USA
7 Massachusetts General Hospital, Boston, MA USA
8 University of California, Irvine, Irvine, CA USA
9 Columbia University, New York, NY USA
10 Columbia University Irving Medical Center, New York, NY USA
11 Department of Radiology and Bioengineering, University of Pittsburgh, Pittsburgh, PA USA
12 New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY USA
13 Harvard/Massachusetts General Hospital, Boston, MA USA
14 University of Wisconsin‐Madison, Madison, WI USA
15 Cambridge Intellectual and Developmental Disabilities Research Group, Department of Psychiatry, University of Cambridge, Douglas House, Cambridge UK
16 Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University, New York, NY USA
17 INEBA, Buenos Aires Argentina
18 Brigham and Women's Hospital, Boston, MA USA
19 Department of Neurology, Keck School of Medicine, University of Southern California, Los Angeles, CA USA
20 Washington University School of Medicine, Saint Louis, MO USA
21 Indiana Alzheimer's Disease Research Center, Indianapolis, IN USA
22 Mayo Clinic, Jacksonville, FL USA
23 Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul Korea, Republic of (South)
24 German Center for Neurodegenerative Diseases (DZNE), Munich Germany
25 Edith Cowan University, Perth, Western Australia Australia
26 Osaka City University Medical School, Osaka Japan
27 Alpert Medical School, Brown University, Providence, RI USA
28 Alzheimer’s disease and other cognitive disorders Unit. Hospital Clínic de Barcelona; FRCB‐IDIBAPS; University of Barcelona, Barcelona Spain
29 University of Newcastle, Newcastle, NSW Australia
30 The Charles F. and Joanne Knight Alzheimer Disease Research Center, St. Louis, MO USA
31 Washington University St. Louis, St. Louis, MO USA
32 Washington University in St. Louis, School of Medicine, St. Louis, MO USA
33 The UC Irvine Institute for Memory Impairments and Neurological Disorders (UCI MIND), Irvine, CA USA

Abstract

Background Alzheimer disease (AD) related cognitive decline occurs at relatively young ages in individuals with Down syndrome (DS, early‐mid 50s) and in those with autosomal dominant mutations (ADAD, 40‐50s). Both groups show similar patterns of amyloid accumulation. We examined if brain volumes are similarly affected by AD pathology in individuals with DS and ADAD.
Method Data for cognitively stable and declining participants was obtained...

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