Excessive neural synchrony in Machado-Joseph disease responsive to subthalamic nucleus stimulation.
Excessive neural synchrony in Machado-Joseph disease responsive to subthalamic nucleus stimulation.
复制标题
马查多-约瑟夫病中的过度神经同步对丘脑底核刺激有反应。
DOI：
10.1002/mds.26173
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发表时间：
2015
期刊：
影响因子：
--
通讯作者：
Anzak A
中科院分区：
文献类型：
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作者：
Anzak A
Machado-Joseph病（MJD），又称脊髓小脑共济失调3型（SCA 3），是一种多聚谷氨酰胺重复序列神经退行性疾病，也是世界范围内最常见的SCA。[1]然而，它的神经基础仍然是个谜，它的治疗只能治标不治本。我们报告了一种药物难治性帕金森病亚型MJD/SCA 3，并发大幅度复发性姿势性震颤，由DBS的丘脑（见视频）。1例48岁男性MJD/SCA 3患者，有7年的进行性运动迟缓、4 ~ 7 Hz静息震颤、严重虚弱的“扑动”再发姿势性震颤病史，（被认为具有共同的病理生理学，不同于特发性震颤2）、腕部的齿轮转动、手臂摆动减少和步态狭窄。脑部MRI正常，但单光子发射计算机断层扫描与DaTscan对比显示尾状核和壳核的信号摄取明显丢失。在200毫克左旋多巴的挑战，有一个17%的改善，但震颤是无反应的。患者报告对试验的所有抗帕金森病药物不耐受。
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is one of the polyglutamine repeat neurodegenerative disorders and the most common form of SCA worldwide. 1 Yet, its neural basis remains enigmatic and its management symptomatic and palliative. We report on a medication-refractory parkinsonian subtype of MJD/SCA3 complicated by a large amplitude re-emergent postural tremor, dramatically arrested by DBS of the STN (see Video). STN local field potential (LFP) recordings further afforded novel insights into pathological neuronal firing in MJD/SCA3.A 48-year-old man with a genetic diagnosis of MJD/SCA3 presented with a 7-year progressive history of global bradykinesia, coarse 4-to 7-Hz resting tremor, severely debilitating “flapping” re-emergent postural tremor (believed to share a common pathophysiology, distinct from that of essential tremor 2), cogwheeling of the wrists, reduced arm swing, and narrow gait. Brain MRI was normal, but single-photon emission computed tomography with DaTscan contrast showed significant loss of signal uptake in both the caudate and putamen. On 200-mg levodopa challenge, there was a 17% improvement in UPDRS, but the tremor was unresponsive. The patient reported intolerance to all antiparkinsonian medications trialed.