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Mutational analysis in early-onset familial Alzheimer's disease in Mainland China.

Neurobiology of aging - 1 Aug 2014

Jiao Bin, Tang Beisha, Liu Xiaoyan, Xu Jun, Wang Yanjiang, Zhou Lin, Zhang Fufeng, Yan Xinxiang, Zhou Yafang, Shen Lu

Abstract excerpt

Mutations of 3 causative genes, namely presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid precursor protein (APP), have been identified as the major causes of early-onset familial Alzheimer's disease (EOFAD). Recently, a GGGGCC repeat expansion in the noncoding region of C9orf72 was also detected in some patients with clinically diagnosed familial Alzheimer's disease. The prevalence of causative gene...

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Source

Identifiers

PMID: 24650794
DOI: 10.1016/j.neurobiolaging.2014.02.014

Genes

APP
PSEN1
PSEN2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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