Myoclonus-dystonia -: Clinical and electrophysiologic pattern related to SGCE mutations
Myoclonus-dystonia -: Clinical and electrophysiologic pattern related to SGCE mutations
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DOI：
10.1212/01.wnl.0000297516.98574.c0
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发表时间：
2008-03-25
期刊：
影响因子：
9.9
通讯作者：
Vidailhet, M.
中科院分区：
文献类型：
--
作者：
Roze, E.;Apartis, E.;Vidailhet, M.
目的：了解SGCE基因突变的肌阵挛-肌张力障碍患者的临床和神经生理特征。方法：我们前瞻性研究了来自22个家族的41例连续的SGCE基因突变患者。对患者进行标准化访谈、神经学检查和详细的神经生理学检查，包括表面肌多导图、长环c反射研究和脑电图抽搐锁回平均。结果：我们注意到皮层下起源的肌阵挛在休息、运动和姿势时具有均匀的电生理模式，并伴有短抽搐（平均95毫秒，范围25至256毫秒）；没有皮层高兴奋性的特征（特别是在反向平均研究中没有异常的c反射反应和短潜伏期肌阵前电位）。肌阵挛要么是孤立的，要么与轻度至中度肌张力障碍有关，大多数病例以颈部/躯干或上肢近端为主。我们发现22%的患者在成年前肌张力障碍有自发的改善，肌张力不足偶尔会成为该疾病的一个表现症状。结论：我们描述了SGCE基因突变患者的肌阵挛，并描述了这种肌阵挛的电生理模式。这种模式可能有助于提高分子试验的敏感性，并确定适合纳入治疗试验的均匀人群。
Objective: To clarify the clinical and neurophysiologic spectrum of myoclonus-dystonia patients with mutations of the SGCE gene.Methods: We prospectively studied 41 consecutive patients from 22 families with documented mutations of the SGCE gene. The patients had a standardized interview, neurologic examination, and detailed neurophysiologic examination, including surface polymyography, long-loop C-reflex studies, and EEG jerk-locked back averaging.Results: We noted a homogeneous electrophysiologic pattern of myoclonus of subcortical origin with short jerks (mean 95 msec, range 25 to 256 msec) at rest, during action, and during posture; there were no features of cortical hyperexcitability (specifically no abnormal C-reflex response and no short-latency premyoclonic potential on back-averaging studies). Myoclonus was either isolated or associated with mild to moderate dystonia, and predominated in the neck/trunk or proximal upper limbs in most cases. We found that 22% of the patients had a spontaneous improvement in their dystonia before reaching adulthood and that hypotonia can occasionally be a presenting symptom of the disorder.Conclusion: We describe the myoclonus in patients with mutations in the SGCE gene and characterize the electrophysiologic pattern of this myoclonus. This pattern may help to improve the sensitivity of molecular tests and to define homogeneous populations suitable for inclusion in therapeutic trials.