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A novel presenilin 1 mutation (F388L) identified in a Chinese family with early-onset Alzheimer's disease.

Neurobiology of aging - 1 Feb 2017

Zhan Yihong, Zheng Honghua, Wang Chen, Rong Zhouyi, Xiao Naian, Ma Qilin, Zhang Yun-Wu

Abstract excerpt

A subset of Alzheimer's disease (AD) occurrence shows autosomal dominant, familial inheritance patterns. Such familial AD (FAD) are caused by mutations in APP, PSEN1, and PSEN2 genes, which encode amyloid-β (Aβ) precursor protein, presenilin 1 (PS1), and presenilin 2 (PS2), respectively. Here, we report a novel PSEN1 mutation (c.1164C > G, p.F388L, mutation nomenclature according to National Center for...

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Source

Identifiers

PMID: 27836335
DOI: 10.1016/j.neurobiolaging.2016.10.010

Genes

PSEN1
APP
PSEN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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