Suppr超能文献

特发性震颤。

Essential tremor.

机构信息

Department of Research, National Neuroscience Institute, Singapore, Singapore.

Neuroscience Academic Clinical Programme, Duke-NUS Medical School, Singapore, Singapore.

出版信息

Nat Rev Dis Primers. 2021 Nov 11;7(1):83. doi: 10.1038/s41572-021-00314-w.

Abstract

Essential tremor (ET) is one of the most common movement disorders, with a reported >60 million affected individuals worldwide. The definition and underlying pathophysiology of ET are contentious. Patients present primarily with motor features such as postural and action tremors, but may also have other non-motor features, including cognitive impairment and neuropsychiatric symptoms. Genetics account for most of the ET risk but environmental factors may also be involved. However, the variable penetrance and challenges in validating data make gene-environment analysis difficult. Structural changes in cerebellar Purkinje cells and neighbouring neuronal populations have been observed in post-mortem studies, and other studies have found GABAergic dysfunction and dysregulation of the cerebellar-thalamic-cortical circuitry. Commonly prescribed medications include propranolol and primidone. Deep brain stimulation and ultrasound thalamotomy are surgical options in patients with medically intractable ET. Further research in post-mortem studies, and animal and cell-based models may help identify new pathophysiological clues and therapeutic targets and, together with advances in omics and machine learning, may facilitate the development of precision medicine for patients with ET.

摘要

特发性震颤(ET)是最常见的运动障碍之一,据报道全球有超过 6000 万人受其影响。ET 的定义和潜在病理生理学存在争议。患者主要表现为运动特征,如姿势性和动作性震颤,但也可能有其他非运动特征,包括认知障碍和神经精神症状。遗传因素占 ET 风险的大部分,但环境因素也可能起作用。然而,可变的外显率和验证数据的挑战使得基因-环境分析变得困难。在尸检研究中观察到小脑浦肯野细胞和邻近神经元群体的结构变化,其他研究发现 GABA 能功能障碍和小脑-丘脑-皮质回路的失调。常用的处方药物包括普萘洛尔和扑米酮。对于药物难治性 ET 患者,深部脑刺激和超声丘脑切开术是手术选择。在尸检研究、动物和基于细胞的模型中进一步研究可能有助于确定新的病理生理线索和治疗靶点,并与组学和机器学习的进步相结合,可能有助于为 ET 患者开发精准医学。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验