Kuncel Alexis M, Turner Dennis A, Ozelius Laurie J, Greene Paul E, Grill Warren M, Stacy Mark A
Department of Biomedical Engineering, Duke University, Box 90281, Durham, NC 27708, United States.
Clin Neurol Neurosurg. 2009 Apr;111(3):303-6. doi: 10.1016/j.clineuro.2008.10.015. Epub 2008 Dec 10.
We present a 74-year-old woman with inherited myoclonus-dystonia, with predominant myoclonus and a novel mutation in the epsilon-sarcoglycan gene. The patient reports a life-long history of rapid, jerking movements, most severe in the upper extremities as well as a postural and action tremor. Bilateral deep brain stimulation (DBS) of the ventral intermediate nucleus of the thalamus was performed, and the patient demonstrated moderate clinical improvement in myoclonus. We studied the effects on myoclonus and tremor of varying DBS frequency and amplitude. The frequency tuning curve for myoclonus was similar to that of tremor, suggesting similar mechanisms by which DBS alleviates both disorders.
我们报告了一名74岁患有遗传性肌阵挛性肌张力障碍的女性，以肌阵挛为主，且在ε-肌聚糖基因中有一个新的突变。患者自述有终身快速抽搐运动史，在上肢最为严重，还有姿势性和动作性震颤。对丘脑腹中间核进行了双侧深部脑刺激（DBS），患者的肌阵挛有中度临床改善。我们研究了不同DBS频率和振幅对肌阵挛和震颤的影响。肌阵挛的频率调谐曲线与震颤相似，提示DBS缓解这两种疾病的机制相似。
