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Down Syndrome, Partial Trisomy 21, and Absence of Alzheimer’s Disease: The Role of APP
Open accessAbstract
Overexpression of the amyloid precursor protein (APP) gene on chromosome 21 in Down syndrome (DS) has been linked to increased brain amyloid levels and early-onset Alzheimer’s disease (AD). An elderly man with phenotypic DS and partial trisomy of chromosome 21 (PT21) lacked triplication of APP affording an opportunity to study the role of this gene in the pathogenesis of dementia. Multidisciplinary studies between ages 66–72 years comprised neuropsychological testing, independent neurological exams, amyloid PET imaging with 11 C-Pittsburgh compound-B (PiB), plasma amyloid-β (Aβ) measurements, and a brain autopsy examination. The clinical phenotype was typical for DS and his intellectual disability was mild in severity. His serial neuropsychological test scores showed less than a 3% decline as compared to high functioning individuals with DS who developed dementia wherein the scores declined 17–28% per year. No dementia was detected on neurological examinations. On PiB-PET scans, the patient with PT21 had lower PiB standard uptake values than controls with typical DS or sporadic AD. Plasma Aβ 42 was lower than values for demented or non-demented adults with DS. Neuropathological findings showed only a single neuritic plaque and neurofibrillary degeneration consistent with normal aging but not AD. Taken together the findings in this rare patient with PT21 confirm the obligatory role of APP in the clinical, biochemical, and neuropathological findings of AD in DS.
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“and is in part a result of triplication of the amyloid precursor protein gene (APP) on Hsa21, which results in the increased production of the amyloid-β peptide and other APP gene products [12, 54].”
From Apolipoprotein E abundance is elevated in the brains of individuals with Down syndrome–Alzheimer’s disease (2025) · cites this paper as [12]
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“Down syndrome–Alzheimer’s disease (DSAD) is the most commonly occurring single genetic cause of AD”
From Apolipoprotein E abundance is elevated in the brains of individuals with Down syndrome–Alzheimer’s disease (2025) · cites this paper as [12]
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“Importantly here, we know that raised APP abundance in our DSAD cases is driven by the additional copy of APP on Hsa21, as indicated by both human-genetics studies and preclinical modelling [12, 54, 58].”
From Apolipoprotein E abundance is elevated in the brains of individuals with Down syndrome–Alzheimer’s disease (2025) · cites this paper as [12]
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“a disorder in which an early onset form of AD invariably develops due mainly to a third copy of APP present on trisomic chromosome 21 (Korbel et al., 2009;Doran et al., 2017;Colacurcio et al., 2018).”
From Lysosomal Dysfunction in Down Syndrome Is APP-Dependent and Mediated by APP-βCTF (C99) (2019) · cites this paper as Doran et al., 2017
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“This strong gene-dosage effect reinforces the amyloid cascade hypothesis and provides a natural human model of genetically driven amyloidopathy [152, 153].”
From Toward a Unified Framework in Molecular Neurobiology of Alzheimer’s Disease: Revisiting the Pathophysiological Hypotheses (2026) · cites this paper as [152]
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Metadata
- Authors
- Doran, E., Keator, D., Head, E., Phelan, M. J., Kim, R., Totoiu, M., Barrio, J. R., Small, G. W., Potkin, S. G., & Lott, I. T.
- Affiliations
- University of California, Irvine Medical Center (US)
- University of California, Irvine (US)
- University of Kentucky (US)
- University of California, Los Angeles (US)
- Corresponding author
- Lott, Ira T.
- ORCID
- Venue
- Journal of Alzheimer’s Disease
- Publisher
- SAGE Publications
- Published
- 2016-12-09
- Volume
- 56
- Issue
- 2
- Pages
- 459-470
- ISSN
- 1387-2877 (ISSN-L)
- 1875-8908
- PMC
- PMC5662115
- OpenAlex
- W2567009735
- Cited by
- 244
- References
- 68
- Citations by year
- 2026: 16 · 2025: 45 · 2024: 35 · 2023: 25 · 2022: 31 · 2021: 28 · 2020: 21 · 2019: 27 · 2018: 11 · 2017: 5
- FWCI
- 11.53
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Journal of Alzheimer s Disease (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- National Institutes of Health (UL1TR000153)
- National Institute on Aging (P50AG016573, R01AG021912, U01AG051412, R01AG033015, U19AG068054, U24AG021886)
- National Institute of Mental Health (U01MH097435)
- National Center for Research Resources (U24RR021992, P20RR020837)
- National Center for Advancing Translational Sciences
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD065160, R01HD064993)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Keywords
- Down syndrome, partial trisomy 21
- MeSH terms
- Aged, Alzheimer Disease, Brain, Down Syndrome, Humans, Male, Phenotype, Amyloid beta-Protein Precursor
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