A neuropathology case report of a woman with Down syndrome who remained cognitively stable: Implications for resilience to neuropathology
Findings from clinical assessments, fluid biomarkers, genotyping, neuroimaging, and neuropathological examinations of an individual with Down syndrome (DS) who remained cognitively stable despite Alzheimer's disease (AD) neuropathology are presented. Neuroimaging revealed stable yet elevated amyloid profiles and moderately elevated tau levels, while neuropathology indicated intermediate AD neuropathologic change with Lewy body and cerebrovascular pathologies. Despite the presence of AD pathology, the participant demonstrated intact cognitive functioning, potentially attributed to genetic variations, cognitive resilience, and environmental enrichment, emphasizing the complexity of AD progression in DS.
Authors
- Adam M. Brickman (ORCID: https://orcid.org/0000-0002-5125-8226)
- William H. Yong
- Laura Xicota (ORCID: https://orcid.org/0000-0003-2832-9214)
- Miloš D. Ikonomović (ORCID: https://orcid.org/0000-0002-8745-3293)
- Christy Hom (ORCID: https://orcid.org/0000-0003-0266-0961)
- Joseph Mettenburg
- Jinghang Li (ORCID: https://orcid.org/0000-0003-1960-9839)
- Julia Kofler
- Jr‐Jiun Liou (ORCID: https://orcid.org/0000-0002-8800-9557)
- Lam‐Ha T. Dang (ORCID: https://orcid.org/0000-0002-3232-3088)
- Jerry J. Lou (ORCID: https://orcid.org/0009-0009-4241-8994)
- Florence Lai (ORCID: https://orcid.org/0000-0003-4354-0624)
- Elizabeth Head (ORCID: https://orcid.org/0000-0003-1115-6396)
- Tamer S. Ibrahim (ORCID: https://orcid.org/0000-0001-6738-5855)
- Tales Santini (ORCID: https://orcid.org/0000-0003-4533-9190)
- Minodora O. Totoiu (ORCID: https://orcid.org/0000-0002-5570-8589)
- Mark E. Mapstone (ORCID: https://orcid.org/0000-0003-0280-8057)
- Ira T. Lott (ORCID: https://orcid.org/0000-0002-3107-0752)
- David B. Keator (ORCID: https://orcid.org/0000-0001-5281-5576)
- Brittany Nelson
- Jamie Nakagiri
- Sierra Wright
- Lisi Flores Aguilar (ORCID: https://orcid.org/0000-0002-7962-7433)
- Eric Doran
Institutions
- Harvard University (US)
- University of Pittsburgh (US)
- University of California, Irvine (US)
- Washington University in St. Louis (US)
- Massachusetts General Hospital (US)
- Columbia University (US)
Publication Details
- Journal
- Alzheimer s & Dementia
- Published
- 2025-01-27
- DOI
- https://doi.org/10.1002/alz.14479
- Citations
- 11
- Primary Topic
- Down syndrome and intellectual disability research
- Type
- article
- Field-Weighted Citation Impact
- 20.66
Funders
- National Institutes of Health
- National Institute on Aging
- Eunice Kennedy Shriver National Institute of Child Health and Human Development