Cao LX, Liu Y, Song ZJ, Zhang BR, Long WY, Zhao GH. Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature. World J Clin Cases 2021; 9(3): 623-631 [PMID: 33553400 DOI: 10.12998/wjcc.v9.i3.623]
Corresponding Author of This Article
Guo-Hua Zhao, MD, Doctor, Department of Neurology, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, No. 1 Shangcheng Avenue Yiwu, Yiwu 322000, Zhejiang Province, China. gzhao@zju.edu.cn
Research Domain of This Article
Genetics & Heredity
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/
Lan-Xiao Cao, Guo-Hua Zhao, Department of Neurology, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, Yiwu 322000, Zhejiang Province, China
Ying Liu, Zhao-Jun Song, Wen-Ying Long, Central Laboratory, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, Yiwu 322000, Zhejiang Province, China
Bao-Rong Zhang, Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310009, Zhejiang Province, China
Author contributions: Zhang BR played a major role in the acquisition of data; Liu Y interpreted the patient data; Cao LX analyzed the data and was a major contributor in writing the manuscript; Zhao GH and Long WY revised the manuscript for intellectual content; All authors read and approved the final manuscript.
Supported bythe Research Foundation of Zhejiang Health, No. 2020RC061.
Informed consent statement: Written informed consent was obtained from each participant for publication of this case report.
Conflict-of-interest statement: The authors declare that they have no competing interests.
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: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Guo-Hua Zhao, MD, Doctor, Department of Neurology, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, No. 1 Shangcheng Avenue Yiwu, Yiwu 322000, Zhejiang Province, China. gzhao@zju.edu.cn
Received: July 12, 2020 Peer-review started: July 12, 2020 First decision: November 26, 2020 Revised: December 2, 2020 Accepted: December 10, 2020 Article in press: December 10, 2020 Published online: January 26, 2021
Abstract
BACKGROUND
Type 1 sialidosis, also known as cherry-red spot-myoclonus syndrome, is a rare autosomal recessive lysosomal storage disorder presenting in the second decade of life. The most common symptoms are myoclonus, ataxia and seizure. It is rarely encountered in the Chinese mainland.
CASE SUMMARY
A 22-year-old male presented with complaints of progressive myoclonus, ataxia and slurred speech, without visual symptoms; the presenting symptoms began at the age of 15-year-old. Whole exome sequencing revealed two pathogenic heterozygous missense variants [c.239C>T (p.P80L) and c.544A>G (p.S182G) in the neuraminidase 1 (NEU1) gene], both of which have been identified previously in Asian patients with type 1 sialidosis. All three patients identified in Mainland China come from three unrelated families, but all three show the NEU1 mutations p.S182G and p.P80L pathogenic variants. Increasing sialidase activity through chaperones is a promising therapeutic target in sialidosis.
CONCLUSION
Through retrospective analysis and summarizing the clinical and genetic characteristics of type 1 sialidosis, we hope to raise awareness of lysosomal storage disorders among clinicians and minimize the delay in diagnosis.
Core Tip: Type 1 sialidosis is a rare autosomal recessive lysosomal storage disorder. Very few cases of this condition have been reported in mainland China, which may be partly attributed to an inadequate awareness of lysosomal storage diseases among neurology physicians. This study reports the clinical and molecular characteristics of a Chinese patient with type 1 sialidosis confirmed by genetic testing. Neuraminidase 1 mutations p.S182G and p.P80L are common pathogenic variants of all three patients identified in Mainland China, coming from three unrelated families.
