Genetics of essential tremor
Genetics of essential tremor
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DOI：
10.1016/j.parkreldis.2015.09.022
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发表时间：
2016-01-01
影响因子：
4.1
通讯作者：
Tan, Eng-King
中科院分区：
文献类型：
--
作者：
Tio, Murni;Tan, Eng-King
特发性震颤是成人最常见的运动障碍之一。虽然人们认识到基因在ET中起主要作用，>= 50%的受影响个体具有阳性家族史，但识别单基因和复杂形式ET的潜在基因一直是一项具有挑战性的任务。最近的发现将LINGO1、FUS和TENM4与特发性震颤联系在一起，人们对此持谨慎的乐观态度，因为先前的相关基因的可重复性和致病性一直存在争议。缺乏金标准诊断标准以及临床和遗传异质性已经提出了相当大的障碍。然而，未来的遗传研究应该采用多管齐下的基因组方法，有足够的样本量，并得到体外和体内功能研究的支持。病理生理机制的阐明将有助于更好的治疗策略和管理。(C) 2015 Elsevier Ltd.版权所有。
Essential tremor is one of the most common adult-onset movement disorders. While it is recognized that genes play a major role in ET with >= 50% of the affected individuals having a positive family history, identifying underlying genes in both monogenic and complex forms of ET has been a challenging task. Recent discoveries linking LINGO1, FUS and TENM4 to essential tremor have been met with cautious optimism since reproducibility and pathogenicity have been contentious in previously implicated genes. The lack of gold standard diagnostic criteria together with clinical and genetic heterogeneity have presented considerable obstacles. Nevertheless, future genetic studies should adopt a multi-prong genomic approach with adequate sample size, supported by both functional in vitro and in vivo studies. Elucidation of the pathophysiologic mechanism will lead to better therapeutic strategies and management. (C) 2015 Elsevier Ltd. All rights reserved.