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4/9/2019 6:12:04 PM | Browse: 161 | Download: 29
Publication Name World Journal of Clinical Cases
Manuscript ID 46157
Country of Manuscript Source China
Specialty Medicine, Research and Experimental
Manuscript type Case Report
Article Title Novel ATL1 mutation in a Chinese family with hereditary spastic paraplegia: A case report and review of literature
Manuscript Source Unsolicited Manuscript
All Author List Xue-Wen Xiao, Juan Du, Bin Jiao, Xin-Xin Liao, Lu Zhou, Xi-Xi Liu, Zhen-Hua Yuan, Li-Na Guo, Xin Wang, Lu Shen and Zhang-Yuan Lin
Funding Agency and Grant Number
Funding Agency Grant Number
National Natural Science Foundation of China 81171068
Correspondence To Zhang-Yuan Lin, MD, PhD, Surgeon, Department of Orthopedics, Xiangya Hospital, Central South University, No. 87 Xiangya Rd., Kaifu District, Changsha 410008, Hunan Province, China. linzhangyuan2505@sina.com
Keywords Hereditary spastic paraplegia; SPG3A; Atlastin-1 (ATL1) gene; Hearing loss; Case report
Core Tip Hereditary spastic paraplegias are a group of genetically and clinically heterogeneous neurodegenerative diseases characterized by lower limbs spasticity and weakness. Here we reported a novel ATL1 Q251R mutation predicted to be pathogenic and a novel clinical phenotype of hearing loss in a Chinese SPG3A family, which expands the clinical and genetic spectrum of ATL1 mutations.
Citation Xiao XW, Du J, Jiao B, Liao XX, Zhou L, Liu XX, Yuan ZH, Guo LN, Wang X, Shen L, Lin ZY. Novel ATL1 mutation in a Chinese family with hereditary spastic paraplegia: A case report and review of literature. World J Clin Cases 2019; 7(11): 1358-1366
Received
2019-02-02 07:23
Peer-Review Started
2019-02-11 01:30
To Make the First Decision
2019-03-14 00:14
Return for Revision
2019-03-19 03:12
Revised
2019-03-23 05:36
Second Decision
2019-03-28 00:53
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2019-04-09 18:12
Articles in Press
2019-04-09 18:12
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
2019-06-05 10:01
ISSN 2307-8960 (online)
Open Access This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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) 2019. 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
Assistant Editor Xiang Li
Science Editor Fang-Fang Ji (Quit in 2019)
Reviewer Code 00504436, 00646249, 04434748, and 00646291
Editorial Director Jin-Lei Wang
Journal Chief Editor
Company Chief Editor Lian-Sheng Ma
Language Editor
Electronic Editor Yan-Xia Xing
Responsible Electronic Editor Yan-Xia Xing
Responsible Science Editor Jin-Lei Wang
Proofing Editorial Director Jin-Lei Wang
Proofing Editor-in-Chief Lian-Sheng Ma
Full Article (PDF) WJCC-7-1358.pdf
Full Article (Word) WJCC-7-1358.docx
Manuscript File 46157-Review.docx
Answering Reviewers 46157-Answering reviewers.pdf
Audio Core Tip 46157-Audio core tip.mp3
Conflict-of-Interest Disclosure Form 46157-Conflict-of-interest statement.pdf
Copyright License Agreement 46157-Copyright license agreement.pdf
Signed Informed Consent Form(s) or Document(s) 46157-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 46157-Language certificate.pdf
Supplementary Material 46157-Supplementary material.docx
Peer-review Report 46157-Peer-review(s).pdf
Scientific Misconduct Check 46157-Scientific misconduct check.pdf
Scientific Editor Work List 46157-Scientific editor work list.pdf