Publication Name	World Journal of Clinical Cases
Manuscript ID	69587
Country	China

Category	Neurosciences
Manuscript Type	Case Report
Article Title	Autosomal recessive spinocerebellar ataxia type 4 with a VPS13D mutation: A case report
Manuscript Source	Unsolicited Manuscript
All Author List	Xin Huang and Dong-Sheng Fan
Funding Agency and Grant Number
Corresponding Author	Dong-Sheng Fan, MD, PhD, Director, Professor, Department of Neurology, Peking University Third Hospital, Huayuan Bei Lu 49, Haidian District, Beijing, China, Beijing 100191, China. dsfan2010@aliyun.com
Key Words	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.
Citation	Huang X, Fan DS. Autosomal recessive spinocerebellar ataxia type 4 with a VPS13D mutation: A case report. World J Clin Cases 2022; 10(2): 703-708

Received	2021-07-10 14:22
Peer-Review Started	2021-07-10 14:24
To Make the First Decision
Return for Revision	2021-10-22 01:02
Revised	2021-11-03 03:24
Second Decision	2021-12-02 03:26
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief	2021-12-03 06:53
Articles in Press	2021-12-03 06:53
Publication Fee Transferred
Edit the Manuscript by Language Editor	2021-11-28 13:54
Typeset the Manuscript	2021-12-29 07:54

ISSN	2307-8960 (online)
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/
Copyright	©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
Permissions	For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
Publisher	Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website	http://www.wjgnet.com