Weber Yvonne G, Lerche Holger
Neurological Clinic and Institute of Applied Physiology, University of Ulm, Zentrum Klinische Forschung, Helmholtzstr. 8/1, D-89081 Ulm, Germany.
Curr Neurol Neurosci Rep. 2009 May;9(3):206-11. doi: 10.1007/s11910-009-0031-8.
Paroxysmal dyskinesias (PDs) are a heterogeneous group of disorders characterized by sudden attacks of involuntary movements that are mostly a combination of dystonia, chorea, athetosis, and ballism. They can sometimes be symptomatic, but usually an underlying cerebral lesion is not present. Most PDs have a genetic background and are divided into kinesigenic, nonkinesigenic, and exercise-induced forms. Recently, the first genes have been identified for paroxysmal nonkinesigenic dyskinesia (MR1) and paroxysmal exercise-induced dyskinesia (PED) (SLC2A1). Whereas the function of the MR-1 protein and the pathophysiology are still poorly understood, mutations in SLC2A1 and their functional characterization predict a reduced transport of glucose across the blood-brain barrier as the underlying mechanism of PED. A locus on chromosome 16 has been described for the kinesigenic forms, but the underlying genetic alterations are unknown. This review summarizes clinical symptoms of the PDs, imaging findings, therapeutic options, and the pathophysiologic background.
发作性运动障碍（PDs）是一组异质性疾病，其特征为突发的不自主运动发作，主要表现为肌张力障碍、舞蹈症、手足徐动症和投掷症的组合。它们有时可能有症状，但通常不存在潜在的脑部病变。大多数发作性运动障碍具有遗传背景，分为运动诱发性、非运动诱发性和运动诱发型。最近，已确定了发作性非运动诱发性运动障碍（MR1）和发作性运动诱发型运动障碍（PED）（SLC2A1）的首个基因。虽然MR-1蛋白的功能和病理生理学仍知之甚少，但SLC2A1中的突变及其功能特征表明，葡萄糖跨血脑屏障的转运减少是PED的潜在机制。16号染色体上的一个位点已被描述与运动诱发性发作性运动障碍有关，但其潜在的基因改变尚不清楚。本综述总结了发作性运动障碍的临床症状、影像学表现、治疗选择和病理生理背景。
