Recent advance of Marinesco-Sj?gren syndrome
10.3760/cma.j.cn115354-20230313-00143
- VernacularTitle:Marinesco-Sj?gren综合征研究进展
- Author:
Zihan REN
1
;
Dongchu LI
;
Bonian MA
;
Zhenzhen WANG
;
Tiantian LAN
;
Zishan MA
;
Zhifeng YANG
;
Guisheng CHEN
Author Information
1. 宁夏医科大学临床医学院，银川 750004
- Keywords:
Marinesco-Sj?gren syndrome;
SIL1 gene;
Endoplasmic reticulum stress;
Protein kinase RNA-like endoplasmic reticulum kinase;
Unfolded protein response
- From:
Chinese Journal of Neuromedicine
2023;22(11):1183-1187
- CountryChina
- Language:Chinese
-
Abstract:
Marinesco-Sj?gren syndrome (MSS), also known as hereditary ataxia-dwarf-mental retardation syndrome, is a rare autosomal recessive ataxia syndrome. This article reviews the recent advance in clinic characteristics, pathogenic gene mutation sites, pathogenesis and clinic diagnosis and treatment of MSS, in order to improve clinicians' understanding of the disease and diagnosis and treatment level, and reduce the missed diagnosis and misdiagnosis of the disease.
