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5/25/2023 4:10:54 PM | Browse: 90 | Download: 151
Publication Name World Journal of Clinical Cases
Manuscript ID 80826
Country/Territory China
2022-11-15 14:10
Peer-Review Started
2022-10-13 17:30
To Make the First Decision
Return for Revision
2023-01-30 03:39
2023-03-06 08:22
Second Decision
2023-04-13 03:05
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2023-04-13 08:41
Articles in Press
2023-04-13 08:41
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Edit the Manuscript by Language Editor
Typeset the Manuscript
2023-05-15 07:34
Publish the Manuscript Online
2023-05-25 16:10
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: https://creativecommons.org/Licenses/by-nc/4.0/
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
Article Reprints For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Category Neurosciences
Manuscript Type Case Report
Article Title Rare adult neuronal ceroid lipofuscinosis associated with CLN6 gene mutations: A case report
Manuscript Source Unsolicited Manuscript
All Author List Xue-Qiang Wang, Chuan-Bi Chen, Wen-Jie Zhao, Guang-Bin Fu and Yu Zhai
Author(s) ORCID Number
Yu Zhai http://orcid.org/0000-0003-0323-9722
Funding Agency and Grant Number
Corresponding Author Yu Zhai, MD, Chief Physician, Department of Neurology, Hainan Western Central Hospital, No. 2 Fubo East Road, Danzhou 571799, Hainan Province, China. diyumail@163.com
Key Words CLN6; Neuronal ceroid lipofuscinosis; Genetic testing; Epilepsy; Ataxia; Case report
Core Tip Adult neuronal ceroidlipofuscinosis (NCL) is a rare neurodegenerative disease that can be caused by mutations in the CLN6 gene. Our patient experienced limb weakness and unstable walking. Whole exome sequencing and Sanger sequencing revealed that the patient had a recessive compound heterozygous mutation in CLN6. The mutation sites are novel and contribute to the knowledge of mutations causing NCL. Although there is no curative treatment for NCL, early diagnosis and symptomatic treatment are possible.
Publish Date 2023-05-25 16:10
Citation Wang XQ, Chen CB, Zhao WJ, Fu GB, Zhai Y. Rare adult neuronal ceroid lipofuscinosis associated with CLN6 gene mutations: A case report. World J Clin Cases 2023; 11(15): 3533-3541
URL https://www.wjgnet.com/2307-8960/full/v11/i15/3533.htm
DOI https://dx.doi.org/10.12998/wjcc.v11.i15.3533
Full Article (PDF) WJCC-11-3533.pdf
Full Article (Word) WJCC-11-3533.docx
Manuscript File 80826_Auto_Edited-JLW.docx
Answering Reviewers 80826-Answering reviewers.pdf
Audio Core Tip 80826-Audio core tip.mp3
Conflict-of-Interest Disclosure Form 80826-Conflict-of-interest statement.pdf
Copyright License Agreement 80826-Copyright license agreement.pdf
Signed Consent for Treatment Form(s) or Document(s) 80826-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 80826-Language certificate.pdf
Peer-review Report 80826-Peer-review(s).pdf
Scientific Misconduct Check 80826-Bing-Fan JR-2.png
Scientific Editor Work List 80826-Scientific editor work list.pdf