原发性震颤
神经科学
运动障碍
普里米酮
脑深部刺激
肌张力障碍
丘脑切开术
医学
物理医学与康复
心理学
疾病
帕金森病
癫痫
病理
卡马西平
作者
Thomas Welton,Francisco Cardoso,Jonathan Carr,Ling Ling Chan,Günther Deuschl,Joseph Jankovic,Eng‐King Tan
标识
DOI:10.1038/s41572-021-00314-w
摘要
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.
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