摘要： 肌张力障碍是一种不自主性主动肌和拮抗肌不协调持续性收缩引起的扭转、重复运动或异常姿势的综合征，遗传因素在其发病中起重要作用。在迄今已知的20 种肌张力障碍亚型（DYT1 ~ 21基因型，除外DYT14 基因型）中共有10 种亚型的致病基因已经明确。近年的遗传学研究发现，转录因子THAP1 和DNA 复制因子CIZ1 突变与成人起病的原发性肌张力障碍相关；PRRT2 基因突变可导致发作性运动诱导性运动障碍；早先报道的DYT14 基因型是由GCH1 基因缺失突变所致，属DYT5 基因型亚型。目前肌张力障碍综合征的诊断尚缺乏高效且实用的方法，对于快速诊断、于分子学水平明确病因仍存在较大困难。本文聚焦于肌张力障碍的遗传学新进展，并提出与肌张力障碍临床诊断相关的问题，供临床医师参考。

关键词: 张力失调, 遗传学研究, 综述

Abstract: Dystonia is a syndrome of abnormal involuntary movements that are repetitive, twisting or patterned, and can result in abnormal postures. Genetic factors play an important role in the pathogenesis of dystonia. To date, at least 20 dystonic syndromes have been distinguished on a genetic basis (DYT1-21, except DYT14), 10 of which have had clear causing genes. Recently, major discoveries have appeared in the genetic field: mutations in the transcription factor THAP1 and DNA replication factor CIP1-interacting zinc finger protein 1 (CIZ1) have been linked to adult-onset primary dystonia; proline-rich transmembrane protein 2 (PRRT2) has been tied to paroxysmal kinesigenic dyskinesia; DYT14 has been redefined as DYT5 due to a deletion mutation in guanosine triphosphate cyclohydrolase 1 (GCH1). In addition, the existing diagnostic algorithms for dystonic syndromes rely on the clinicians' experience, without a streamlined diagnostic pathway. Non-specialist clinicians and neurologists may, therefore, find diagnosis of dystonic syndromes difficult. This review focuses on the molecular and phenotypic features of the hereditary dystonias, with emphasis on recent advances. Also an eight-question approach is proposed in this review to inform specialists and general neurologists on the appropriate diagnostic test for each patient with a possible dystonic syndrome.

Key words: Dystonia, Genetic research, Review