Abnormalities in motor cortical plasticity differentiate manifesting and nonmanifesting DYT1 carriers
Abnormalities in motor cortical plasticity differentiate manifesting and nonmanifesting DYT1 carriers
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DOI：
10.1002/mds.21160
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发表时间：
2006-12-01
影响因子：
8.6
通讯作者：
Bhatia, Kailash P.
中科院分区：
文献类型：
--
作者：
Edwards, Mark J.;Huang, Ying-Zu;Bhatia, Kailash P.
DYT 1基因的突变导致显性遗传的儿童期发病的原发性肌张力障碍，但有趣的是，只有30 - 40%的携带突变的人会出现症状。我们使用这组患者提供的独特模型来研究原发性肌张力障碍的病理生理学基础是脑可塑性异常的假设。我们招募了8名DYT 1基因携带者伴肌张力障碍，6名DYT 1基因携带者不伴肌张力障碍，6名散发性原发性肌张力障碍（斜颈）患者和10名健康对照者。各组年龄匹配。我们比较了重复经颅磁刺激（rTMS）传递到运动皮层，通过评估皮质脊髓兴奋性的变化rTMS后，在这些组的主题的效果。使用抑制方案“cTBS”以θ脉冲串刺激（TBS）的形式给予rTMS（每5 Hz给予50-Hz脉冲串中的总共300个脉冲）。DYT 1基因携带者肌张力障碍和斜颈患者与健康受试者相比，对rTMS的反应显着延长。相比之下，DYT 1基因携带者没有肌张力障碍没有显着的反应rTMS。这些数据表明，过度反应的实验性“可塑性探测协议”的主题与肌张力障碍，但缺乏反应的遗传易感个体谁没有发展肌张力障碍。这些初步数据表明，在遗传易感个体中，发生塑性变化的倾向可能会影响症状的发展，这可能是原发性肌张力障碍发病机制的重要机制。(C)2006年，《社会运动》创刊。
A mutation in the DYT1 gene causes dominantly inherited childhood-onset primary dystonia, but intriguingly, only 30 to 40% of those who carry the mutation ever develop symptoms. We have used the unique model provided by this group of patients to investigate the hypothesis that abnormalities in brain plasticity underlie the pathophysiology of primary dystonia. We recruited 8 DYT1 gene carriers with dystonia, 6 DYT1 gene carriers without dystonia, 6 patients with sporadic primary dystonia (torticollis), and 10 healthy control subjects. Groups were age-matched. We compared the effect in these groups of subjects of repetitive transcranial magnetic stimulation (rTMS) delivered to the motor cortex, by assessing changes in corticospinal excitability following rTMS. rTMS was given in the form of theta burst stimulation (TBS) using the inhibitory protocol "cTBS" (total of 300 pulses in 50-Hz bursts given every 5Hz). DYT1 gene carriers with dystonia and subjects with torticollis had a significantly prolonged response to rTMS in comparison with healthy subjects. In contrast, DYT1 gene carriers without dystonia had no significant response to rTMS. These data demonstrate an excessive response to an experimental "plasticity probing protocol" in subjects with dystonia, but a lack of response in genetically susceptible individuals who have not developed dystonia. These preliminary data suggest that the propensity to undergo plastic change may affect the development of symptoms in genetically susceptible individuals and that this may be an important mechanism in the pathogenesis of primary dystonia in general. (C) 2006 Movement Disorder Society.