Research advances on the genetics of dystonia / 中风与神经疾病杂志

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.