Zhang YK, Liu JR, Yin KL, Zong Y, Wang YZ, Cao YM. Creutzfeldt-Jakob disease presenting as Korsakoff syndrome caused by E196A mutation in PRNP gene: A case report. World J Clin Cases 2023; 11(25): 5982-5987 [PMID: 37727484 DOI: 10.12998/wjcc.v11.i25.5982]
Corresponding Author of This Article
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
Research Domain of This Article
Clinical Neurology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
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/
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
Abstract
BACKGROUND
Prion diseases are a group of degenerative nerve diseases that are caused by infectious prion proteins or gene mutations. In humans, prion diseases result from mutations in the prion protein gene (PRNP). Only a limited number of cases involving a specific PRNP mutation at codon 196 (E196A) have been reported. The coexistence of Korsakoff syndrome in patients with Creutzfeldt-Jakob disease (CJD) caused by E196A mutation has not been documented in the existing literature.
CASE SUMMARY
A 61-year-old Chinese man initially presented with Korsakoff syndrome, followed by rapid-onset dementia, visual hallucinations, akinetic mutism, myoclonus, and hyperthermia. The patient had no significant personal or familial medical history. Magnetic resonance imaging of the brain revealed extensive hyperintense signals in the cortex, while positron emission tomography/computed tomography showed a diffuse reduction in cerebral cortex metabolism. Routine biochemical and microorganism testing of the cerebrospinal fluid (CSF) yielded normal results. Tests for thyroid function, human immunodeficiency virus, syphilis, vitamin B1 and B12 levels, and autoimmune rheumatic disorders were normal. Blood and CSF tests for autoimmune encephalitis and autoantibody-associated paraneoplastic syndrome yielded negative results. A test for 14-3-3 protein in the CSF yielded negative results. Whole-genome sequencing revealed a disease-causing mutation in PRNP. The patient succumbed to the illness 11 months after the initial symptom onset.
CONCLUSION
Korsakoff syndrome, typically associated with alcohol intoxication, also manifests in CJD patients. Individuals with CJD along with PRNP E196A mutation may present with Korsakoff syndrome.
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.
