原发性肌张力障碍分子遗传学研究进展

摘要

Dystonias are heterogeneous hyperkinetic movement disorders characterized by involuntary muscle contractions which result in twisting,repetitive movements and abnormal postures.In recent years,there was a great advance in molecular genetic studies of primary dystonia.This paper will review the clinical characteristics and molecular genetic studies of primary dystonia,including early-onset generalized torsion dystonia (DYT1),whispering dysphonia (DYT4),dopa-responsive dystonia (DYT5),mixedtype dystonia (DYT6),paroxysmal kinesigenic dyskinesia (DYT10),myoclonus-dystonia syndrome (DYT11),rapid-onset dystonia parkinsonism (DYT12),adult-onset cervical dystonia (DYT23),craniocervical dystonia (DYT24) and primary torsion dystonia (DYT25).%肌张力障碍是一种由主动肌和拮抗肌的不协调收缩或过度收缩导致的以不自主运动和异常姿势为特征的运动障碍性疾病.近年来原发性肌张力障碍的分子遗传学研究进展极为迅速,本文拟就临床较为常见类型的临床特征及分子遗传学研究进展进行综述,包括早发型扭转型肌张力障碍(DYT1基因型)、低语性发声困难(DYT4基因型)、多巴反应性肌张力障碍(DYT5基因型)、混合型肌张力障碍(DYT6基因型)、发作性运动诱发性运动障碍(DYT10基因型)、肌阵挛-肌张力障碍综合征(DYT11基因型)、快速起病的肌张力障碍-帕金森综合征(DYT12基因型)、成人起病的痉挛性斜颈(DYT23基因型)、颅颈段肌张力障碍(DYT24基因型)和原发性扭转型肌张力障碍(DYT25基因型).