Welter Marie-Laure, Grabli David, Karachi Carine, Jodoin Nicolas, Fernandez-Vidal Sara, Brun Yohann, Navarro Soledad, Rogers Alister, Cornu Philippe, Pidoux Bernard, Yelnik Jérôme, Roze Emmanuel, Bardinet Eric, Vidailhet Marie
Université Pierre et Marie Curie-Paris 6, Centre de Recherche de l'Institut du Cerveau et de la Moelle épiniere (CRICM), UMR-S975, Paris, France.
Inserm, U1127, Paris, France.
Mov Disord. 2015 Jun;30(7):992-6. doi: 10.1002/mds.26244. Epub 2015 Apr 16.
Myoclonus-dystonia related to epsilon-sarcoglycan gene mutations is characterized by myoclonic jerks and mild to moderate dystonia. The role of basal ganglia dysfunction in the pathogenesis is unknown.
Pallidal neuronal activity was recorded in six myoclonus-dystonia and six primary generalized dystonia patients operated on for internal globus pallidus deep brain stimulation.
In myoclonus-dystonia patients compared with primary-dystonia patients, internal pallidum neurons showed higher burst frequency, lower mean burst, and pause durations. External pallidum neurons showed higher mean pause frequency. Oscillatory activity was present in 33% and 35% of internal pallidum neurons in myoclonus-dystonia and primary-dystonia patients, respectively, predominantly in the theta frequency band (3-8 Hz). In myoclonus-dystonia patients with more severe myoclonus, internal pallidum neurons exhibited a higher bursting activity with high intraburst frequency and lower oscillatory activity frequency.
Myoclonus-dystonia appears to be related to specific changes in internal pallidum activity, leading to disruption in striato-pallido-thalamo-cortical circuits. © 2015 International Parkinson and Movement Disorder Society.
与ε-肌聚糖基因突变相关的肌阵挛性肌张力障碍的特征为肌阵挛性抽搐和轻至中度肌张力障碍。基底神经节功能障碍在其发病机制中的作用尚不清楚。
对6例肌阵挛性肌张力障碍患者和6例接受苍白球内侧深部脑刺激手术的原发性全身性肌张力障碍患者记录苍白球神经元活动。
与原发性肌张力障碍患者相比，肌阵挛性肌张力障碍患者的苍白球内侧神经元爆发频率更高，平均爆发和暂停持续时间更短。苍白球外侧神经元平均暂停频率更高。肌阵挛性肌张力障碍患者和原发性肌张力障碍患者分别有33%和35%的苍白球内侧神经元存在振荡活动，主要在θ频段（3-8赫兹）。在肌阵挛更严重的肌阵挛性肌张力障碍患者中，苍白球内侧神经元表现出更高的爆发活动，爆发内频率高，振荡活动频率低。
肌阵挛性肌张力障碍似乎与苍白球内侧活动的特定变化有关，导致纹状体-苍白球-丘脑-皮质回路中断。©2015国际帕金森病和运动障碍协会。
