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特发性震颤的遗传学

Genetics of essential tremor.

作者信息

Deng Hao, Le Weidong, Jankovic Joseph

机构信息

Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA.

出版信息

Brain. 2007 Jun;130(Pt 6):1456-64. doi: 10.1093/brain/awm018. Epub 2007 Mar 12.

Abstract

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.

摘要

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。

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