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Article

Different clinical phenotypes in siblings with a presenilin-1 P264L mutation.

Dementia and geriatric cognitive disorders - 1 Jan 2012

Ishizuka Takanori, Nakamura Masayuki, Ichiba Mio, Fujita Seigo, Takeuchi Kouzo, Fujimoto Toshiro, Sano Akira

Abstract excerpt

BACKGROUND: Mutations in the presenilin-1 gene (PSEN1) have been identified in autosomal dominant early-onset cases of Alzheimer's disease (AD). AIMS: To investigate different clinical phenotypes of siblings possessing the same heterozygous P264L mutation in the PSEN1 gene. METHODS: We evaluated clinical features, neuroimaging results, and neuropsychological examinations. The PSEN1 gene and other dementia-related...

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Source

Identifiers

PMID: 22572737
DOI: 10.1159/000338394

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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