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Dementia in Down syndrome: unique insights for Alzheimer disease research
Open accessAbstract
Virtually all adults with Down syndrome (DS) show the neuropathological changes of Alzheimer disease (AD) by the age of 40 years. This association is partially due to overexpression of amyloid precursor protein, encoded by APP, as a result of the location of this gene on chromosome 21. Amyloid-β accumulates in the brain across the lifespan of people with DS, which provides a unique opportunity to understand the temporal progression of AD and the epigenetic factors that contribute to the age of dementia onset. This age dependency in the development of AD in DS can inform research into the presentation of AD in the general population, in whom a longitudinal perspective of the disease is not often available. Comparison of the risk profiles, biomarker profiles and genetic profiles of adults with DS with those of individuals with AD in the general population can help to determine common and distinct pathways as well as mechanisms underlying increased risk of dementia. This Review evaluates the similarities and differences between the pathological cascades and genetics underpinning DS and AD with the aim of providing a platform for common exploration of these disorders.
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“There is substantial evidence of neuropathology from early in life in DS,6,9,10,21 including defects in neuronal development, an increased ratio of inhibitory to excitatory neurons, alterations in neuronal dendritic spines dynamics, activation of microglia, astrocyte reactivity, and elevated production of inflammatory cytokines in the brain.22,23,24,25”
From Interferon signaling modulates Down syndrome-associated Alzheimer’s disease pathology in a mouse model (2025) · cites this paper as [9]
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“Individuals with Down syndrome (DS), caused by trisomy of chromosome 21 (chr21, T21), are strongly predisposed to Alzheimer’s disease (AD), due to triplication of the APP gene, with ∼100% penetrance of AD brain pathology by age 40 and variable onset of dementia thereafter.”
From Interferon signaling modulates Down syndrome-associated Alzheimer’s disease pathology in a mouse model (2025) · cites this paper as [9]
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“People with DS are at greater risk for developing early-onset of dementia caused by AD.”
From Interferon signaling modulates Down syndrome-associated Alzheimer’s disease pathology in a mouse model (2025) · cites this paper as [9]
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Metadata
- Authors
- Lott, I. T., & Head, E.
- Affiliations
- University of California, Irvine (US)
- University of Kentucky (US)
- Corresponding author
- Lott, Ira T.
- Venue
- Nature Reviews Neurology
- Published
- 2019-02-07
- Volume
- 15
- Issue
- 3
- Pages
- 135-147
- ISSN
- 1759-4758 (ISSN-L)
- 1759-4766
- PMC
- PMC8061428
- OpenAlex
- W2914706199
- Cited by
- 383
- References
- 241
- Citations by year
- 2026: 35 · 2025: 58 · 2024: 61 · 2023: 45 · 2022: 57 · 2021: 66 · 2020: 46 · 2019: 15
- FWCI
- 7.68
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Nature Reviews Neurology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- National Institutes of Health (UL1TR001414)
- National Institute on Aging (P50AG016573, U01AG051412, U19AG068054, U24AG021886)
- National Center for Advancing Translational Sciences
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD064993)
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Keywords
- Down syndrome, Alzheimer's disease, dementia, amyloid precursor protein, APP overexpression, chromosome 21, amyloid-beta deposition, epigenetic factors, disease progression, biomarkers, genetic risk profiles, neuropathology
- MeSH terms
- Alzheimer Disease, Down Syndrome, Humans
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