Deng Hao, Le Weidong, Jankovic Joseph
Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA.
Brain. 2007 Jun;130(Pt 6):1456-64. doi: 10.1093/brain/awm018. Epub 2007 Mar 12.
Essential tremor (ET), the cause of which remains poorly understood, is one of the most common neurological disorders. While environmental agents have been proposed to play a role, genetic factors are believed to contribute to its onset. Thus far, three gene loci (ETM1 on 3q13, ETM2 on 2p24.1 and a locus on 6p23) have been identified in patients and families with the disorder. In addition, a Ser9Gly variant in the dopamine D3 receptor gene on 3q13 has been suggested to be a risk factor. Moreover, genetically deficient animal models express a phenotype that overlaps with some clinical characteristics of the human form of the illness. Further analyses of these genetic abnormalities may lead to the identification of causative mutations and a better understanding of the molecular mechanisms in this common movement disorder.
特发性震颤(ET)是最常见的神经系统疾病之一,其病因仍知之甚少。虽然有观点认为环境因素起了一定作用,但遗传因素被认为与该病的发病有关。迄今为止,已在患有该疾病的患者和家族中确定了三个基因位点(3q13上的ETM1、2p24.1上的ETM2和6p23上的一个位点)。此外,3q13上多巴胺D3受体基因中的Ser9Gly变异体被认为是一个风险因素。而且,基因缺陷动物模型表现出的表型与人类疾病的一些临床特征有重叠。对这些基因异常的进一步分析可能会导致发现致病突变,并更好地理解这种常见运动障碍的分子机制。