Genetics of essential tremor

被引：44

作者：

Tio, Murni ^{[1
]}

Tan, Eng-King ^{[1
,2
,3
,4
]}

机构：

[1] Natl Neurosci Inst, Singapore, Singapore

[2] Singapore Gen Hosp, Dept Neurol, Singapore, Singapore

[3] Singapore Gen Hosp, Dept Clin Res, Singapore, Singapore

[4] Duke NUS Grad Med Sch, Singapore, Singapore

来源：

PARKINSONISM & RELATED DISORDERS | 2016年 / 22卷

关键词：

Essential tremor; Cerebellum; Genetic mutations; Genetic heterogeneity; Animal model; VARIANT; UPDATE;

D O I：

10.1016/j.parkreldis.2015.09.022

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：S176 / S178

页数：3

共 29 条

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