Marinesco-Sjögren综合征研究进展  

Recent advance of Marinesco-Sjögren syndrome

作　　者：任紫晗 李东初 马伯年 王珍珍 兰甜甜 马子珊 杨智峰 陈桂生[2] Ren Zihan;Li Dongchu;Ma Bonian;Wang Zhenzhen;Lan Tiantian;Ma Zishan;Yang Zhifeng;Chen Guisheng(School of Clinical Medicine,Ningxia Medical University,Yinchuan 750004,China;Ningxia Key Laboratory of Craniocerebral Diseases,Department of Neurology,General Hospital of Ningxia Medical University,Yinchuan 750004,China)

机构地区：[1]宁夏医科大学临床医学院,银川750004 [2]宁夏医科大学总医院神经内科,宁夏颅脑疾病重点实验室,银川750004

出　　处：《中华神经医学杂志》2023年第11期1183-1187,共5页Chinese Journal of Neuromedicine

摘　　要：Marinesco-Sjögren综合征(MSS)又称遗传性共济失调-侏儒-智力缺陷综合征,是一种罕见的常染色体隐性遗传性共济失调综合征。本文现围绕MSS的临床特征、致病基因突变位点、发病机制及临床诊疗等方面的近期研究进展进行综述,以期提高临床医生对该病的认识及诊治水平,减少对该病的漏诊误诊。Marinesco-Sjögren 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.

关 键 词：Marinesco-Sjögren综合征 SIL1基因 内质网应激 蛋白激酶RNA样内质网激酶 未折叠蛋白反应 

分 类 号：R596.1[医药卫生—内科学]