A Neurophysiological Study of Myoclonus in Patients with DYT11 Myoclonus-Dystonia Syndrome
A Neurophysiological Study of Myoclonus in Patients with DYT11 Myoclonus-Dystonia Syndrome
复制标题
DOI：
10.1002/mds.22256
复制
发表时间：
2008-10-30
影响因子：
8.6
通讯作者：
Franceschetti, Silvana
中科院分区：
文献类型：
--
作者：
Marelli, Cecilia;Canafoglia, Laura;Franceschetti, Silvana
ε-肌聚糖（SGCE）基因突变与DYT 11肌阵挛-肌张力障碍综合征（MDS）相关。本研究的目的是通过神经生理学技术来表征9例以肌阵挛为主和轻度肌张力障碍的DYT 11-MIDS患者的肌阵挛。所有患者均发生不同程度的多灶性肌阵挛，包括短（平均89.1 ± 13.3毫秒）的肌电爆发，无任何脑电图相关性，有时表现为假节律过程。在5例患者中，突然刺激可诱发大量抽搐，显示与脑干起源一致的“惊吓样”肌肉伸展和松弛。躯体感觉诱发电位和长环反射正常，其为沉默期，通过经颅磁刺激评估长期皮质内抑制;然而，短期皮质内抑制显示轻微损害，β带事件相关同步（ERS）延迟。瞬目反射恢复明显增强。DYT 11-MDS的肌阵挛可能发生在皮质下水平，并可能涉及基底节和脑干回路。皮质损害可能取决于皮质下功能障碍，但它也可能在影响肌阵挛表现中起作用。DYT 11-MDS中SCGE缺陷的广泛分布可能证明了不同脑区的参与。(C)2008运动障碍协会
Mutations in the epsilon-sarcoglycan (SGCE) gene have been associated with DYT11 myoclonus-dystonia syndrome (MDS). The aim Of this Study was to characterize myoclonus in 9 patients with DYT11-MIDS presenting with predominant myoclonus and mild dystonia by means of neurophysiological techniques. Variously severe multifocal myoclonus occurred in all of the patients, and included short (mean 89.1 +/- 13.3 milliseconds) electromyographic bursts without any electroencephalographic correlate, sometimes presenting a pseudorhythmic course. Massive jerks could be evoked by Sudden stimuli in 5 patients, showing a "startle-like" muscle spreading and latencies consistent with a brainstem origin. Somatosensory evoked potentials and long-loop reflexes were normal, its was silent period and long-term intracortical inhibition evaluated by means of transcranial magnetic stimulation; however, short-term intracortical inhibition revealed subtle impairment, and event-related synchronization (ERS) in the beta band was delayed. Blink reflex recovery was strongly enhanced. Myoclonus in DYT11-MDS seems to be generated at subcortical level, and possibly involves basal ganglia and brainstem circuitries. Cortical impairment may depend from subcortical dysfunction, but it can also have a role in iufluencing the myoclonic presentation. The wide distribution of the defective SCGE in DYT11-MDS may justify the involvement of different brain areas. (C) 2008 Movement Disorder Society