Physiological Analysis Of Involuntary Movements

这个项目的目标是了解不同的不自主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，如脑电图，肌电图，经颅磁刺激和神经成像与正电子发射断层扫描和功能磁共振成像。该科目前正在进行的项目包括震颤、抽搐和肌阵挛的研究。我们已经完成了一项对原发性震颤患者的磁共振波谱研究，该研究显示小脑中N-乙酰天冬氨酸的损失，增加了小脑是该疾病中受损结构的证据。追求的假设是否酒精有影响的中央组件或机械组件的特发性震颤患者，我们表明与加速度计，酒精摄入后震颤的改善是由于对中央振荡器的影响。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。我们用加速度计表明，心因性震颤患者在敲击所需频率时会改变震颤频率，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较高的个体内变异性，并且难以正确敲击所需的频率。需要新的药物来治疗原发性震颤。使用震颤加速度测量法和临床震颤测试，我们表明1-辛醇可以安全使用，并且在给药后长达6小时内，1-辛醇在1 mg/kg至64 mg/kg的剂量范围内显著降低良性原发性震颤的震颤幅度。使用基于体素的形态测量学，我们比较了图雷特综合征患者和匹配的对照组之间的灰质体积。一项中期分析显示，妥瑞症患者的前额叶皮层灰质体积减少。拉福拉体病是一种严重的进行性肌阵挛疾病。我们完成了生酮饮食的治疗试验，并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.