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CASE REPORT article

Front. Neurosci.
Sec. Neurogenomics
Volume 18 - 2024 | doi: 10.3389/fnins.2024.1423892

Case report: Double Mutations in a Patient with Early-Onset Alzheimer's Disease in China，PSEN2 and IDE variants

Provisionally accepted
Zhongzheng Chang Zhongzheng Chang 1,2Zhiyang Wang Zhiyang Wang 1Lele Luo Lele Luo 1Zhaohong Xie Zhaohong Xie 2Caibin Yue Caibin Yue 3Xianli Bian Xianli Bian 2Hui Yang Hui Yang 2*Ping Wang Ping Wang 2*
  • 1 Cheeloo College of Medicine, Shandong University, Jinan, Shandong, China
  • 2 Department of Neurology, The Second Hospital of Shandong University, Jinan, Shandong Province, China
  • 3 Department of Infectious Diseases and Hepatology, The Second Hospital of Shandong University, Jinan, China

The final, formatted version of the article will be published soon.

    Alzheimer's disease (AD) is a progressive neurodegenerative disease characterized by gradual cognitive decline. Early-onset Alzheimer's disease (EOAD) is defined as AD occurring before age 65.The main pathogenic gene variants associated with EOAD include PSEN1, PSEN2, and APP. IDE gene has been identified as a risk factor in the pathogenesis of AD. In this study, we report a 33-yearold male with mutations in the PSEN2 gene (c.640G>T, p.V214L) and IDE gene (c.782G>A, p.R261Q). PSEN2 V214L has been reported in five previous cases, and no reported cases have carried IDE R261Q. He had progressive memory decline, his sister carried the same gene mutations but had no clinical manifestations. Neuroimaging revealed mild cortical atrophy. The concentration of Aβ42 in cerebrospinal fluid (CSF) was obviously decreased. In silico predictive models suggested that these mutations are damaging. Our findings indicate that mutations in the PSEN2 and IDE genes may disrupt the normal functioning of their respective proteins, contributing to the pathogenesis of AD.

    Keywords: Alzheimer's disease, PSEN2, IDE, EOAD, Missense Mutation

    Received: 08 Aug 2024; Accepted: 04 Oct 2024.

    Copyright: © 2024 Chang, Wang, Luo, Xie, Yue, Bian, Yang and Wang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Hui Yang, Department of Neurology, The Second Hospital of Shandong University, Jinan, Shandong Province, China
    Ping Wang, Department of Neurology, The Second Hospital of Shandong University, Jinan, Shandong Province, China

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