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Essential tremor
被引:0
|作者:
Thomas Welton
Francisco Cardoso
Jonathan A. Carr
Ling-Ling Chan
Günther Deuschl
Joseph Jankovic
Eng-King Tan
机构:
[1] National Neuroscience Institute,Department of Research
[2] Duke-NUS Medical School,Neuroscience Academic Clinical Programme
[3] University of Minas Gerais,Movement Disorders Unit, Neurology Service, Internal Medicine Department
[4] Stellenbosch University,Division of Neurology, Faculty of Medicine and Health Sciences
[5] Singapore General Hospital,Department of Diagnostic Radiology
[6] Duke-NUS Medical School,Radiological Sciences Academic Clinical Programme and Neuroscience & Behavioral Disorders Signature Research Programme
[7] Christian Albrechts University,Department of Neurology
[8] Baylor College of Medicine,Parkinson’s Disease Center and Movement Disorders Clinic, Department of Neurology
[9] National Neuroscience Institute,Department of Neurology
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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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