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Differential effects of PSEN1 mutations (p.P117L with ataxia and p.P264L without ataxia) in early-onset Alzheimer's disease.

Journal of Alzheimer's disease : JAD - 1 May 2026

Gao Pengbo, Chen Ben, Xu Danyan, Wang Qiang, Yang Mingfeng, Lin Gaohong, Zhou Huarong, Huang Xingxiao, Zeng Yijie, Liang Shuang, Li Jiafu, Liu Qin, Yao Kexin, Xiao Zhidai, Zhong Xiaomei, Ning Yuping

Abstract excerpt

Presenilin 1 (PSEN1) plays a pivotal role in early-onset Alzheimer's disease (EOAD). The clinical phenotype of EOAD is typically marked by cognitive decline, with ataxia rarely reported. We identified mutations at different positions of PSEN1 in two Chinese patients with EOAD. Interestingly, one patient carrying the PSEN1 p.P117L mutation manifested symptoms of ataxia, while another patient harboring the PSEN1...

Topics

Humans
Presenilin-1
Alzheimer Disease
Mutation
Ataxia
Female
Male
Age of Onset

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 41837641
DOI: 10.1177/13872877261430771

Genes

PSEN1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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