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Article

A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances.

Journal of neurology, neurosurgery, and psychiatry - 1 Feb 2002

Queralt R, Ezquerra M, Lleó A, Castellví M, Gelpí J, Ferrer I, Acarín N, Pasarín L, Blesa R, Oliva R

Abstract excerpt

A novel mutation (V89L) in the presenilin 1 (PSEN1) gene is described in a family with pathologically confirmed Alzheimer's disease. The mutation was identified in two affected members with early onset Alzheimer's disease characterised by early and marked behavioural disturbances. The mutation is located on the same side of the helix as other described mutations in the first transmembrane domain and its relation...

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Source

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Identifiers

PMID: 11796781
DOI: 10.1136/jnnp.72.2.266
PMCID: PMC1737723

Genes

PSEN1

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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