Publication Name	World Journal of Clinical Cases
Manuscript ID	80826
Country	China

Received	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
Revised	2023-03-06 08:22
Second Decision	2023-04-13 03:05
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief	2023-04-13 08:41
Articles in Press	2023-04-13 08:41
Publication Fee Transferred
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)
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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
ORCID	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
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Audio Core Tip	80826-Audio core tip.mp3
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Scientific Editor Work List	80826-Scientific editor work list.pdf
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