Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jan 14, 2022; 10(2): 703-708
Published online Jan 14, 2022. doi: 10.12998/wjcc.v10.i2.703
Autosomal recessive spinocerebellar ataxia type 4 with a VPS13D mutation: A case report
Xin Huang, Dong-Sheng Fan
Xin Huang, Dong-Sheng Fan, Department of Neurology, Peking University Third Hospital, Beijing 100191, China
Xin Huang, Dong-Sheng Fan, Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases, Beijing 100191, China
Author contributions: Huang X collected all the data, recorded the video, performed the literature review, and wrote the manuscript; Fan DS reviewed and revised the manuscript; all authors issued final approval for the version to be submitted.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: There are no conflicts of interest to disclose.
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: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Dong-Sheng Fan, MD, PhD, Director, Professor, Department of Neurology, Peking University Third Hospital, No. 49 Huayuan Bei Road, Haidian District, Beijing 100191, China. dsfan2010@aliyun.com
Received: July 10, 2021
Peer-review started: July 10, 2021
First decision: October 22, 2021
Revised: November 3, 2021
Accepted: December 3, 2021
Article in press: December 3, 2021
Published online: January 14, 2022
Processing time: 185 Days and 13.7 Hours
Abstract
BACKGROUND

Autosomal recessive spinocerebellar ataxia type 4 (SCAR4) is a type of SCA that is a group of hereditary diseases characterized by gait ataxia. The main clinical features of SCAR4 are progressive cerebellar ataxia, pyramidal signs, neuropathy, and macrosaccadic intrusions. To date, many gene dysfunctions have been reported to be associated with SCAR4.

CASE SUMMARY

Here, we report a novel compound heterozygous mutation, c.3288delA (p.Asp1097ThrfsTer6), in the VPS13D gene in a young female Chinese patient. The patient found something wrong with her legs about 10 years ago and presented with the typical characteristics of SCAR4 when she came to the hospital, including ataxia, neuropathy, and positive pyramidal signs. She was then diagnosed with SCAR4 and went home with symptomatic schemes.

CONCLUSION

SCAR4 is a hereditary disease characterized by ataxia, pyramidal signs, neuropathy, and macrosaccadic intrusions. We report a novel compound heterozygous mutation, c.3288delA (p.Asp1097ThrfsTer6), in the VPS13D gene, which enriches the gene mutation spectrum and provides additional information about SCAR4.

Keywords: Spinocerebellar ataxia; Recessive; VPS13D gene; Compound heterozygous mutation; Case report

Core Tip: We report a female Chinese patient diagnosed with autosomal recessive spinocerebellar ataxia type 4 (SCAR4) with a compound heterozygous mutation, c.3288delA (p.Asp1097ThrfsTer6), in the VPS13D gene. By reviewing the literature, we speculate that the mutation may cause SCAR4 by affecting mitochondrial function. However, there is currently no specific treatment for SCAR4.