Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. May 16, 2023; 11(14): 3288-3294
Published online May 16, 2023. doi: 10.12998/wjcc.v11.i14.3288
Novel mutation of SPG4 gene in a Chinese family with hereditary spastic paraplegia: A case report
Jie Wang, Wei-Ting Bu, Mei-Jia Zhu, Ji-You Tang, Xiao-Min Liu
Jie Wang, Department of Neurology, Shandong Provincial Qianfoshan Hospital, Shandong University of Traditional Chinese Medicine, Jinan 250014, Shandong Province, China
Wei-Ting Bu, Department of Neurology, Shandong Provincial Qianfoshan Hospital, Weifang Medical University, Jinan 250014, Shandong Province, China
Mei-Jia Zhu, Ji-You Tang, Xiao-Min Liu, Department of Neurology, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Jinan 250014, Shandong Province, China
Author contributions: Wang J wrote the manuscript; Liu XM and Zhu MJ performed the neurological examinations; Wang J and Liu XM assessed the mutation and analyzed neuroimages; Liu XM and Tang JY designed the report; Wang J and Bu WT drafted the manuscript; and all authors read and approved the final version of the manuscript.
Supported by The Shandong Provincial Natural Science Foundation, No. ZR2021MH059.
Informed consent statement: This study was approved by the Ethics Committee of Shandong First Medical University. Informed consent was obtained for the publication of relevant clinical information and photographs.
Conflict-of-interest statement: All authors report having no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Xiao-Min Liu, PhD, Department of Neurology, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, No. 16766 Jingshi Road, Jinan 250014, Shandong Province, China. lxmywc@163.com
Received: January 6, 2023
Peer-review started: January 6, 2023
First decision: February 8, 2023
Revised: March 15, 2023
Accepted: April 12, 2023
Article in press: April 12, 2023
Published online: May 16, 2023
Processing time: 129 Days and 16.9 Hours
Core Tip

Core Tip: It is difficult to distinguish hereditary spastic paraplegia (HSP) from other spasticity-related genetic diseases because the different affected genes lead to large differences in the pathogenic mechanisms, clinical features, and imaging abnormalities of HSP. Therefore, genetic testing is important for the diagnosis and typing of HSP. A Chinese HSP male patient was identified, and pedigree surveys of his relatives were performed. Furthermore, genomic DNA was extracted for whole-exome sequencing, and pathogenic variants were screened by bioinformatics methods and verified using Sanger sequencing. A novel heterozygous duplication mutation, c.1053dupA, p. (Gln352Thrfs*15), was identified in the SPG4 gene in this family.