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Article

Early-onset Alzheimer's disease with a de novo mutation in the presenilin 1 gene.

Experimental neurology - 1 Dec 2007

Golan M P, Styczyńska M, Jóźwiak K, Walecki J, Maruszak A, Pniewski J, Lugiewicz R, Filipek S, Zekanowski C, Barcikowska M

Abstract excerpt

A 32-year-old woman diagnosed with very rapidly progressing early-onset Alzheimer's disease (EOAD), age of onset 29 years, and S170F mutation in presenilin 1 gene (PSEN1) is presented. Neuroimaging conducted 2 years after the first symptoms was typical for the advanced stage of Alzheimer's disease (AD), showing cortical brain atrophy, particularly within hippocampus, frontal and temporal cortex. The unaffected...

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Source

Identifiers

PMID: 17931627
DOI: 10.1016/j.expneurol.2007.08.016

Genes

PSEN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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