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

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
Publish the Manuscript Online	2022-01-12 04:01

ISSN	2307-8960 (online)
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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
ORCID	Author(s) ORCID Number Xin Huang http://orcid.org/0000-0002-1764-4537 Dong-Sheng Fan http://orcid.org/0000-0002-3965-7718
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.
Publish Date	2022-01-12 04:01
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
URL	https://www.wjgnet.com/2307-8960/full/v10/i2/703.htm
DOI	https://dx.doi.org/10.12998/wjcc.v10.i2.703

Full Article (PDF)	WJCC-10-703.pdf
Full Article (Word)	WJCC-10-703.docx
CARE Checklist–2016	69587-CARE-Checklist–2016-revision.pdf
Manuscript File	69587_Auto_Edited-YJM-Wang TQ.docx
Answering Reviewers	69587-Answering reviewers.pdf
Audio Core Tip	69587-Audio core tip.m4a
Conflict-of-Interest Disclosure Form	69587-Conflict-of-interest statement.pdf
Copyright License Agreement	69587-Copyright license agreement .pdf
Signed Informed Consent Form(s) or Document(s)	69587-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate	69587-Language certificate.pdf
Peer-review Report	69587-Peer-review(s).pdf
Scientific Misconduct Check	69587-Bing-Ma YJ-2.png
Scientific Editor Work List	69587-Scientific editor work list.pdf