Case Report
Copyright ©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Feb 6, 2019; 7(3): 389-395
Published online Feb 6, 2019. doi: 10.12998/wjcc.v7.i3.389
Gerstmann-Sträussler-Scheinker disease: A case report
Ming-Ming Zhao, Liang-Shu Feng, Shuai Hou, Ping-Ping Shen, Li Cui, Jia-Chun Feng
Ming-Ming Zhao, Liang-Shu Feng, Shuai Hou, Ping-Ping Shen, Li Cui, Jia-Chun Feng, Department of Neurology and Neuroscience Center, the First Hospital of Jilin University, Changchun 130021, Jilin Province, China
Author contributions: Zhao MM and Feng LS designed the report; Hou S and Shen PP contributed to the acquisition of data; Zhao MM, Cui L, and Feng JC wrote the paper.
Supported by Hungarian-Chinese Scientific Foundation, No. HCSCF-2016-4.
Informed consent statement: Consent was obtained from the patient’s wife for publication of this report and the accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest.
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 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/
Corresponding author: Jia-Chun Feng, MD, PhD, Chief Doctor, Full Professor, Department of Neurology and Neuroscience Center, the First Hospital of Jilin University, No. 71, Xinmin Street, Changchun 130021, Jilin Province, China. fengjcfrank@hotmail.com
Telephone: +86-431-88782762 Fax: +86-431-88782762
Received: October 19, 2018
Peer-review started: October 22, 2018
First decision: December 9, 2018
Revised: December 24, 2018
Accepted: December 29, 2018
Article in press: December 30, 2018
Published online: February 6, 2019
Core Tip

Core tip: Here, we report the first case of genetically diagnosed Gerstmann-Sträussler-Scheinker (GSS) in Northeast China. A 3.5-year follow-up period provided particularly interesting insights into the disease course and its associated imaging findings. The variable symptoms and diagnostic methods used for this disease are also discussed in depth with reference to the current case and several previous cases. Since GSS is particularly rare in China, it may be easily misdiagnosed. This case may contribute to improving our understanding and diagnosis of GSS.