Research advances on the genetics of dystonia
10.19845/j.cnki.zfysjjbzz.2023.0155
- VernacularTitle:肌张力障碍的遗传学研究进展
- Author:
Junyu LIN
1
;
Huifang SHANG
1
Author Information
1. Department of Neurology,West China Hospital,Sichuan University,Chengdu 610041,China
- Publication Type:Journal Article
- Keywords:
Dystonia;
Genetics;
Research advances
- From:
Journal of Apoplexy and Nervous Diseases
2023;40(8):680-684
- CountryChina
- Language:Chinese
-
Abstract:
Dystonia is a movement disorder characterized by continuous or intermittent muscle contraction leading to involuntary abnormal movements or postures. The etiology of dystonia can be hereditary,acquired,or idiopathic. Hereditary dystonia has been listed in the first catalog of 121 rare diseases in China. The genetic causes of dystonia are complex,with numerous new genes related to dystonia discovered in recent years,which include HPCA,KCTD17,COL6A3,KMT2B,VPS16,VPS41,VPS11,AOPEP,EIF2AK2,ADCY5,GNAO1,GNB1,TBCD,CACNA1B,DNAJC12,SLC18A2,SQSTM1,IRF2BPL,and YY1. The relationship between clinical phenotypes and genotypes in dystonia is complex and insufficiently understood. This article reviews the genetics of dystonia,aiming to improve clinicians ability to diagnose and treat this disease.
- Full text:2024061610050273672肌张力障碍的遗传学研究进展.pdf
