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Article

A novel PSEN1 gene mutation (L235R) associated with familial early-onset Alzheimer's disease.

Neuroscience letters - 27 May 2011

Antonell Anna, Balasa Mircea, Oliva Rafael, Lladó Albert, Bosch Beatriz, Fabregat Neus, Fortea Juan, Molinuevo José Luis, Sánchez-Valle Raquel

Abstract excerpt

Mutations in the presenilin 1 (PSEN1) gene are the most frequent cause of familial Alzheimer's disease (AD), with at least 182 different mutations published to date. We report a 48-year-old woman (age at onset 47 years) who presented a progressive alteration of episodic memory, spatial disorientation, apathy, language disturbances and neglect of personal care. Her MMSE score was 20/30. The patient presented an...

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Source

Identifiers

PMID: 21501661
DOI: 10.1016/j.neulet.2011.03.084

Genes

PSEN1
APOE

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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