Brin M F, Koller W
Mount Sinai Medical Center, Department of Neurology, New York, NY 10029, USA.
Mov Disord. 1998;13 Suppl 3:55-63. doi: 10.1002/mds.870131310.
Essential tremor (ET) is one of the most common movement disorders. However, the etiology and pathogenesis are as yet unknown. Continued research will give us clues to understanding the impact on society, identifying genetic and environmental contributors to the disease, understanding the significance of a sporadic case, the phenotypic spectrum and timing of presentation, and the relationship with other neurologic disorders. Because the condition is both clinically and genetically heterogeneous and there is overlap with these other disorders, such as dystonia, parkinsonism, peripheral neuropathy, and migraine, the definition of phenotype plagues research in this area. Advances in understanding the genetic and molecular underpinnings of tremor should provide additional tools to unravel the clinical phenotype (including physiology), genotype-phenotype relationships, and the epidemiology of tremor.
特发性震颤(ET)是最常见的运动障碍之一。然而,其病因和发病机制尚不清楚。持续的研究将为我们提供线索,以了解其对社会的影响、确定该疾病的遗传和环境因素、理解散发病例的意义、表型谱和发病时间,以及与其他神经系统疾病的关系。由于该疾病在临床和遗传上具有异质性,且与其他疾病如肌张力障碍、帕金森综合征、周围神经病变和偏头痛存在重叠,表型的定义困扰着该领域的研究。在理解震颤的遗传和分子基础方面取得的进展应能提供更多工具,以阐明临床表型(包括生理学)、基因型-表型关系以及震颤的流行病学。