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Article

A novel mutation in the PSEN1 gene (L286P) associated with familial early-onset dementia of Alzheimer type and lobar haematomas.

European journal of neurology - 1 Dec 2007

Sánchez-Valle R, Lladó A, Ezquerra M, Rey M J, Rami L, Molinuevo J L

Abstract excerpt

The aim of this study was to describe a novel mutation in exon 8 of the presenilin gene (L286P) associated with early-onset autosomal dominant Alzheimer's disease (AD) and lobar haematomas. The proband was a woman who developed cognitive decline with predominant memory loss at the age of 35 years. The patient died at the age of 54 years and the neuropathological examination confirmed the diagnosis of AD. Three of...

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Source

Identifiers

PMID: 18028191
DOI: 10.1111/j.1468-1331.2007.01988.x

Genes

PSEN1

Variants

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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