僵人综合征中的突触前神经肌肉传递缺陷。
Presynaptic neuromuscular transmission defect in the stiff person syndrome.
作者信息
Lo Y L, Tan Y E
机构信息
Department of Neurology, National Neuroscience Institute, Singapore General Hospital, Outram Road, Academia Level 4, Singapore, 169608, Singapore.
Duke-NUS Graduate Medical School, Singapore, Singapore.
出版信息
BMC Neurol. 2016 Dec 1;16(1):249. doi: 10.1186/s12883-016-0773-2.
BACKGROUND
The stiff person syndrome (SPS) is a rare disorder characterized by muscular rigidity and stiffness.
CASE PRESENTATIONS
We describe an SPS patient presenting with longstanding fatigue and electrophysiological evidence of presynaptic neuromuscular transmission defect, who responded to administration of pyridostigmine. In contrast, no electrophysiolgical evidence of neuromuscular transmission defect was demonstrated in 2 other SPS patients without fatigue symptoms.
CONCLUSIONS
Our findings suggest that glutamic acid decarboxylase (GAD) antibodies may play a role in presynaptic neuromuscular transmission defect of SPS patients with fatigue.
背景
僵人综合征（SPS）是一种以肌肉僵硬为特征的罕见疾病。
病例报告
我们描述了一名SPS患者，该患者长期疲劳，并有突触前神经肌肉传递缺陷的电生理证据，对吡啶斯的明治疗有反应。相比之下，另外两名无疲劳症状的SPS患者未表现出神经肌肉传递缺陷的电生理证据。
结论
我们的研究结果表明，谷氨酸脱羧酶（GAD）抗体可能在伴有疲劳的SPS患者的突触前神经肌肉传递缺陷中起作用。
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