Tio Murni, Tan Eng-King
National Neuroscience Institute, Singapore.
National Neuroscience Institute, Singapore; Department of Neurology, Singapore General Hospital, Singapore; Department of Clinical Research, Singapore General Hospital, Singapore; Duke-NUS Graduate Medical School, Singapore.
Parkinsonism Relat Disord. 2016 Jan;22 Suppl 1:S176-8. doi: 10.1016/j.parkreldis.2015.09.022. Epub 2015 Sep 14.
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.
特发性震颤是最常见的成人起病的运动障碍之一。虽然人们认识到基因在特发性震颤中起主要作用，超过50%的患者有阳性家族史，但确定单基因和复杂形式特发性震颤的潜在基因一直是一项具有挑战性的任务。最近将LINGO1、FUS和TENM4与特发性震颤联系起来的发现引发了谨慎的乐观情绪，因为在之前涉及的基因中，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基因异质性带来了相当大的障碍。尽管如此，未来的基因研究应采用多管齐下的基因组方法，样本量要足够，并得到体外和体内功能研究的支持。阐明病理生理机制将带来更好的治疗策略和管理方法。
