Cited by 394Down syndrome and intellectual disability researchAlzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

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Dementia in Down syndrome: unique insights for Alzheimer disease research

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Lott, Ira T., Head, Elizabeth·2019·Nature Reviews Neurology

DOI 10.1038/s41582-018-0132-6PMC PMC8061428

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Abstract

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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Additional file 9 of Integration of ATAC-seq and RNA-seq identifies MX1-mediated AP-1 transcriptional regulation as a therapeutic target for Down syndrome
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Additional file 6 of Integration of ATAC-seq and RNA-seq identifies MX1-mediated AP-1 transcriptional regulation as a therapeutic target for Down syndrome
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Additional file 1 of Emergence of distinct and heterogeneous strains of amyloid beta with advanced Alzheimer’s disease pathology in Down syndrome
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Additional file 5 of Integration of ATAC-seq and RNA-seq identifies MX1-mediated AP-1 transcriptional regulation as a therapeutic target for Down syndrome
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Additional file 4 of Integration of ATAC-seq and RNA-seq identifies MX1-mediated AP-1 transcriptional regulation as a therapeutic target for Down syndrome
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Additional file 3 of Integration of ATAC-seq and RNA-seq identifies MX1-mediated AP-1 transcriptional regulation as a therapeutic target for Down syndrome
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Additional file 7 of Integration of ATAC-seq and RNA-seq identifies MX1-mediated AP-1 transcriptional regulation as a therapeutic target for Down syndrome
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Additional file 1 of Integration of ATAC-seq and RNA-seq identifies MX1-mediated AP-1 transcriptional regulation as a therapeutic target for Down syndrome
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Additional file 1 of Cryo-EM structures reveal tau filaments from Down syndrome adopt Alzheimer’s disease fold
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Additional file 8 of Integration of ATAC-seq and RNA-seq identifies MX1-mediated AP-1 transcriptional regulation as a therapeutic target for Down syndrome
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Authors: Lott, I. T., & Head, E.
Affiliations: University of California, Irvine (US)
University of Kentucky (US)
Corresponding author: Lott, Ira T.
ORCID: Lott, Ira T.
Head, Elizabeth
Venue: Nature Reviews Neurology
Publisher: Springer Science and Business Media LLC
Published: 2019-02-07
Volume: 15
Issue: 3
Pages: 135-147
ISSN: 1759-4758 (ISSN-L)
1759-4766
DOI: 10.1038/s41582-018-0132-6
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
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
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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