肌张力障碍基于临床特征分类的遗传学进展

Genetic advances in dystonia based on classification of clinical characteristics

2013年肌张力障碍国际专家共识委员会更新了肌张力障碍的分类标准,根据是否伴有其他运动障碍,将其分为单纯性肌张力障碍和复合性肌张力障碍.目前,单纯性肌张力障碍相关基因包括TOR1A、THAP1、AN03、GNAL、TUBB4A、HPCA、COL6A3基因.复合性肌张力障碍中,肌张力障碍合并肌阵挛相关基因包括SGCE、CACNA1B、KCTD17基因,三磷酸鸟苷环化水解酶1（GCH1）、酪氨酸径化酶（TH）基因突变也可表现为肌张力障碍合并肌阵挛;肌张力障碍合并帕金森症状相关基因主要包括TAF1、GCH1、TH、ATP1A3、PRKRA基因.我们基于肌张力障碍临床特征,对其相关基因进行分类综述,以利于其精准诊断.

In 2013,consensus on the phenomenology and classification of dystonia was updated and dystonia was classified into isolated dystonia and combined dystonia according to whether combined with other movement disorders.Up to now,the genes for isolated dystonia include TOR1A,THAP1,ANO3,GNAL,TUBB4A,and newly reported HPCA and COL6A3.As for the combined dystonia,genes for dystonia plus myoclonus include SGCE,CACNA1B,KCTD17,guanosine triphosphate cyclohydrolase 1 and tyrosine hydroxylase;genes for dystonia plus parkinsonism include TAF 1,GCH 1,TH,ATP1A3,PRKRA.Based on the clinical features of dystonia,a comprehensive review of related genes is helpful for its accurate diagnosis.