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4/9/2019 6:12:04 PM | Browse: 272 | Download: 390
Publication Name World Journal of Clinical Cases
Manuscript ID 46157
Country China
Category Medicine, Research & 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
Corresponding Author 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
Key Words 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/
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