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5/6/2026 9:32:14 AM | Browse: 14 | Download: 0
Publication Name World Journal of Radiology
Manuscript ID 116652
Country China
Category Neurosciences
Manuscript Type Case Report
Article Title Novel PSEN1 (Q223 L) mutation causes early-onset Alzheimer’s disease: A case report
Manuscript Source Unsolicited Manuscript
All Author List Jie Li, Fen-Li Zhou, Juan-Juan Chen, Zhi-Jian Lin, Xin Shi, Guo-Gao Zhang, Hong-Jie Yang, Meng-Jie Dong, Li Yi, Jun Hu and Xu-Hui Chen
Funding Agency and Grant Number
Funding Agency Grant Number
Shenzhen Basic Research Program No. JCYJ20241202124859016
Corresponding Author Xu-Hui Chen, MD, PhD, Department of Neurology, Peking University Shenzhen Hospital, Lianhua Road, Shenzhen 518000, Guangdong Province, China. xuhuichen@pkuszh.com
Key Words Alzheimer’s disease; Mutation; PSEN1; Gene; Pathogenic; Case report
Core Tip We identified a novel p.Gln223 Leu mutation in PSEN1 in a patient with early-onset Alzheimer’s disease, thus providing a valuable contribution to the genetic diagnosis and understanding of the pathogenesis of Alzheimer’s disease.
Citation Li J, Zhou FL, Chen JJ, Lin ZJ, Shi X, Zhang GG, Yang HJ, Dong MJ, Yi L, Hu J, Chen XH. Novel PSEN1 (Q223 L) mutation causes early-onset Alzheimer’s disease: A case report. World J Radiol 2026; In press
Received
2025-11-17 04:56
Peer-Review Started
2025-11-17 04:56
First Decision by Editorial Office Director
2025-12-03 10:11
Return for Revision
2025-12-03 10:12
Revised
2025-12-31 11:04
Publication Fee Transferred
2026-01-26 14:50
Second Decision by Editor
2026-05-06 03:18
Second Decision by Editor-in-Chief
Final Decision by Editorial Office Director
2026-05-06 09:32
Articles in Press
2026-05-06 09:32
Edit the Manuscript by Language Editor
Typeset the Manuscript
ISSN 1949-8470 (online)
Open Access This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution-NonCommercial (CC BY-NC 4.0) license. No commercial re-use. See Permissions. Published by Baishideng Publishing Group Inc.
Copyright ©Author(s) (or their employer(s)) 2026. No commercial re-use. See Permissions. Published by Baishideng Publishing Group Inc.
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