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Article

Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu).

Neurology - 28 Oct 2003

Portet F, Dauvilliers Y, Campion D, Raux G, Hauw J J, Lyon-Caen O, Camu W, Touchon J

Abstract excerpt

The authors describe a 28-year-old woman with histopathologically confirmed early onset Alzheimer disease characterized by severe frontal lobe involvement associated with a de novo mutation in the presenilin 1 gene (PSEN1).

Read the complete abstract on PubMed

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Source

Identifiers

PMID: 14581682
DOI: 10.1212/01.wnl.0000086811.39675.79

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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