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Article

Down Syndrome, Partial Trisomy 21, and Absence of Alzheimer's Disease: The Role of APP.

Journal of Alzheimer's disease : JAD - 1 Jan 2017

Doran Eric, Keator David, Head Elizabeth, Phelan Michael J, Kim Ron, Totoiu Minodora, Barrio Jorge R, Small Gary W, Potkin Steven G, Lott Ira T

Abstract excerpt

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...

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Identifiers

PMID: 27983553
DOI: 10.3233/JAD-160836
PMCID: PMC5662115

Genes

APP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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