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Article

A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease.

Neuroscience letters - 30 Apr 2014

Luedecke Daniel, Becktepe Jos S, Lehmbeck Jan T, Finckh Ulrich, Yamamoto Raina, Jahn Holger, Boelmans Kai

Abstract excerpt

Mutations in the presenilin 1 (PS1) gene (PSEN1) are associated with familial Alzheimer disease (FAD). Here, we report on a 50-year-old patient presenting with progressive deterioration of his short-term memory and a family history of early-onset dementia. Diagnostic workup included a neuropsychological examination, structural magnetic resonance (MR) imaging, cerebrospinal fluid (CSF) biomarkers including total...

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Source

Identifiers

PMID: 24582897
DOI: 10.1016/j.neulet.2014.02.034

Genes

PSEN1
APP
PSEN2

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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