Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Sep 6, 2023; 11(25): 5982-5987
Published online Sep 6, 2023. doi: 10.12998/wjcc.v11.i25.5982
Creutzfeldt-Jakob disease presenting as Korsakoff syndrome caused by E196A mutation in PRNP gene: A case report
Yong-Kang Zhang, Jia-Rui Liu, Kang-Li Yin, Yuan Zong, Yu-Zhen Wang, Ye-Min Cao
Yong-Kang Zhang, Jia-Rui Liu, Kang-Li Yin, Yuan Zong, Yu-Zhen Wang, Ye-Min Cao, Diagnosis and Treatment Center of Vascular Disease, Shanghai TCM-Integrated Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai 200082, China
Author contributions: Zong Y, Wang YZ and Yin KL conducted data collection and medical history compilation; Zhang YK and Liu JR conducted manuscript writing, manuscript editing, and submission; Cao YM revised and guided the manuscript; All authors read and approved the final manuscript.
Informed consent statement: The patient’s immediate family members signed a Chinese informed consent form approved by the Ethics Committee of Shanghai TCM-Integrated Hospital. The consent form covers permission to publish personal information and images. Both the copy of the consent form and the copy of the consent have been uploaded for editor review.
Conflict-of-interest statement: Ye-Min Cao has not received fees for serving as a speaker. Ye-Min Cao has not received research funding from any organization(s). Ye-Min Cao is an employee of Shanghai TCM-Integrated Hospital. Ye-Min Cao doesn’t own stocks and/or shares in the hospital. Ye-Min Cao doesn’t own a patent.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
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/
Corresponding author: Ye-Min Cao, Doctor, MD, PhD, Academic Research, Chief Doctor, Professor, Diagnosis and Treatment Center of Vascular Disease, Shanghai TCM-Integrated Hospital, Shanghai University of Traditional Chinese Medicine, No. 230 Road Baoding, Hongkou District, Shanghai 200082, China. caoyemin@shutcm.edu.cn
Received: May 26, 2023
Peer-review started: May 26, 2023
First decision: July 17, 2023
Revised: July 25, 2023
Accepted: August 9, 2023
Article in press: August 9, 2023
Published online: September 6, 2023
Processing time: 97 Days and 20.1 Hours
Core Tip

Core Tip: The present case report describes a rare mutation in the prion protein gene at codon 196 causing Creutzfeldt-Jakob disease (CJD) with a clinical presentation of Korsakoff syndrome. This study emphasizes the importance of considering this mutation in CJD patients presenting with Korsakoff syndrome based on clinical, laboratory, and imaging findings.