Physiological Analysis Of Involuntary Movements

这个项目的目标是了解不同非自愿运动障碍的潜在生理机制。我们使用的工具包括临床神经生理学方法，如脑电、肌电和经颅磁刺激，以及正电子发射断层扫描和功能磁共振成像的神经成像。该科目前正在进行的项目包括对震颤、抽搐和肌阵挛的研究。我们已经完成了一项对特发性震颤患者的磁共振波谱研究，结果显示小脑中N-乙酰天冬氨酸的丢失，进一步证明小脑是这种疾病中受损的结构。追寻酒精是否对原发性震颤患者的中枢成分或机械成分有影响的假说，我们用加速度计表明，饮酒后震颤的改善是由于对中枢振荡器的影响。我们完成了使用临床神经生理学测试来识别心因性震颤患者的研究。我们用加速计显示，心因性震颤患者在敲击所需频率时会改变他们的震颤频率，而原发性震颤和帕金森震颤患者则不会。此外，心因性震颤患者在敲击时表现出更高的个体内变异性，并且在正确敲击所需频率方面存在困难。治疗特发性震颤需要新药。用震颤加速计量法和临床震颤试验表明，正辛醇是可以安全使用的，在1 mg/kg~mg/kg剂量范围内，给药后6h可显着降低良性特发性震颤的震颤幅度。使用基于体素的形态计量学方法，我们比较了抽动症患者和匹配的对照组受试者的灰质体积。一项中期分析显示多发性抽动症患者前额叶皮质灰质体积减少。拉福拉体病是一种严重的进行性疾病，伴有肌阵挛。我们完成了一项生酮饮食的治疗试验，表明患者可以从这种干预中受益。

The goal of this project is to understand the underlying physiological mechanisms of different involuntary movement disorders. The tools we use include clinical neurophysiological methods such as electroencephalography, electromyography, and transcranial magnetic stimulation and neuroimaging with positron emission tomography and functional magnetic resonance imaging. Currently active projects in the Section include studies of tremor, tic and myoclonus. We have completed a study of magnetic resonance spectroscopy in patients with essential tremor that shows a loss of N-acetyl-aspartate in the cerebellum, increasing evidence that the cerebellum is the damaged structure in the disorder. Pursuing the hypothesis whether alcohol has an effect on the central component or the mechanical component in patients with essential tremor, we showed with accelerometry that the improvement in tremor after alcohol ingestion is due to an effect on the central oscillator. We completed studies using clinical neurophysiological testing to identify patients with psychogenic tremor. We showed with accelerometry that psychogenic tremor patients change their tremor frequency while tapping a required frequency, whereas essential tremor and Parkinson tremor patients do not. In addition, psychogenic tremor patients showed higher intraindividual variability while tapping and had difficulties in tapping the required frequency properly. New drugs are needed for treatment of essential tremor. Using tremor accelerometry and clinical tremor testing we showed that 1-Octanol can be safely used and that it significantly reduces tremor amplitude in benign essential tremor in the dose range of 1 mg/kg to 64 mg/kg for up to 6 hours post drug administration. Using voxel-based morphometry, we compared gray matter volume between patients with Tourette's syndrome and matched control subjects. An interim analysis shows reduction of gray matter volume in the prefrontal cortex in Tourette patients. Lafora body disease is a severe, progressive disorder with myoclonus. We completed a treatment trial with a ketogenic diet and showed that patients can benefit from this intervention.