Louis Elan D
GH Sergievsky Center, Department of Neurology, Taub Institute for Research on Alzheimer's Disease and the Aging Brain, and Department of Epidemiology, Columbia University, New York, NY 10032, USA.
Handb Clin Neurol. 2011;100:433-48. doi: 10.1016/B978-0-444-52014-2.00033-1.
Essential tremor (ET) is among the most common neurological disorders. This chapter reviews the epidemiology, clinical features, and pathophysiology of ET. The defining feature is a kinetic tremor of the arms. Patients often have a postural tremor as well. Other body regions may also be involved (especially the head). The severity of tremor may range from mild cases in population settings to more severe cases in treatment settings. Motor features aside from tremor have been described in ET, including tandem gait difficulty. Mild cognitive changes (especially executive dysfunction) have been documented in many studies as well. Despite being regarded as one of the most common hyperkinetic movement disorders, establishing a precise prevalence has been difficult, yet the prevalence among persons aged 40 and older seems to be 4% or higher. There are numerous examples of families in which the disease appears to be inherited yet genetic studies have not progressed to the point where ET genes have been identified. There is also a growing understanding that environmental factors are likely to contribute to the etiology of ET. More recent postmortem studies have helped localize the possible source of ET to structural alterations in the cerebellum and its connecting pathways.
特发性震颤（ET）是最常见的神经系统疾病之一。本章回顾了特发性震颤的流行病学、临床特征和病理生理学。其典型特征是手臂的动作性震颤。患者通常也有姿势性震颤。身体的其他部位也可能受累（尤其是头部）。震颤的严重程度从人群中的轻度病例到治疗环境中的重度病例不等。除震颤外，特发性震颤还存在其他运动特征，包括串联步态困难。许多研究也记录了轻度认知变化（尤其是执行功能障碍）。尽管被认为是最常见的运动亢进性运动障碍之一，但要确定其确切患病率一直很困难，不过40岁及以上人群中的患病率似乎为4%或更高。有许多家族病例显示该疾病似乎具有遗传性，但基因研究尚未进展到确定特发性震颤相关基因的阶段。人们也越来越认识到环境因素可能导致特发性震颤的病因。最近的尸检研究有助于将特发性震颤的可能源头定位到小脑及其连接通路的结构改变上。
