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Article

A novel PSEN1 mutation (K239N) associated with Alzheimer's disease with wide range age of onset and slow progression.

European journal of neurology - 1 Jul 2010

Lladó A, Fortea J, Ojea T, Bosch B, Sanz P, Valls-Solé J, Clarimon J, Molinuevo J L, Sánchez-Valle R

Abstract excerpt

OBJECTIVE: To describe a novel mutation (K239N) in the PSEN1 associated with familial Alzheimer's disease (AD). METHODS AND RESULTS: The proband was a man who developed cognitive decline with marked behavioural abnormalities at age 57. At age 70, he was admitted into a psychiatric facility because of aggressiveness and a suicide attempt. Family history was consistent with autosomal dominant AD. One of the two...

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Source

Identifiers

PMID: 20158511
DOI: 10.1111/j.1468-1331.2010.02949.x

Genes

PSEN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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