Gasser T, Fahn S, Breakefield X O
Department of Neurology, Massachusetts General Hospital, Charlestown 02129.
Brain Pathol. 1992 Oct;2(4):297-308. doi: 10.1111/j.1750-3639.1992.tb00707.x.
Dystonia is a term used to describe a specific set of abnormal movements that can occur as a symptom of a variety of neurologic disorders, but also as a disease entity in its own right. This review focuses on the primary dystonias and delineates the genetic contribution to these disorders. Included is a description of the well recognized forms of primary dystonias which manifest autosomal dominant inheritance, especially the "classic" type of early onset, generalized torsion dystonia, but also other clinically distinct forms such as myoclonic dystonia, paroxysmal dystonia, and DOPA-responsive dystonia. Also, a summary of the molecular genetic studies pertinent to these disorders and a discussion of the implications of recent genetic research for delineating the wide spectrum of this phenotypically and genetically heterogeneous group of diseases are forthcoming.
肌张力障碍是一个术语，用于描述一组特定的异常运动，这些运动既可以作为各种神经系统疾病的症状出现，也可以本身作为一种疾病实体存在。本综述聚焦于原发性肌张力障碍，并阐述了遗传因素在这些疾病中的作用。文中描述了公认的表现为常染色体显性遗传的原发性肌张力障碍的形式，特别是早发性、全身性扭转性肌张力障碍的“经典”类型，以及其他临床上有明显区别的形式，如肌阵挛性肌张力障碍、发作性肌张力障碍和多巴反应性肌张力障碍。此外，还将总结与这些疾病相关的分子遗传学研究，并讨论近期遗传学研究对于明确这一表型和遗传均具有异质性的疾病群体的广泛谱系的意义。
