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Article

A multifactorial model of pathology for age of onset heterogeneity in familial Alzheimer's disease.

Acta neuropathologica - 1 Feb 2021

Sepulveda-Falla Diego, Chavez-Gutierrez Lucia, Portelius Erik, Vélez Jorge I, Dujardin Simon, Barrera-Ocampo Alvaro, Dinkel Felix, Hagel Christian, Puig Berta, Mastronardi Claudio, Lopera Francisco, Hyman Bradley T, Blennow Kaj, Arcos-Burgos Mauricio, de Strooper Bart, Glatzel Markus

Abstract excerpt

Presenilin-1 (PSEN1) mutations cause familial Alzheimer's disease (FAD) characterized by early age of onset (AoO). Examination of a large kindred harboring the PSEN1-E280A mutation reveals a range of AoO spanning 30 years. The pathophysiological drivers and clinical impact of AoO variation in this population are unknown. We examined brains of 23 patients focusing on generation and deposition of beta-amyloid (Aβ)...

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Identifiers

PMID: 33319314
DOI: 10.1007/s00401-020-02249-0
PMCID: PMC7847436

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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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