浙江大学Zhi-Ying Wu研究小组总结发作性运动诱发性运动障碍的遗传学和病理生理学机制。该论文于2023年12月13日在线发表在《神经科学快报》上。

发作性运动诱发性运动障碍（PKD）是阵发性运动障碍中最常见的一种类型，其特征是由突然的自主运动引发的突然和短暂的舞蹈症或肌张力障碍。PKD主要由PRRT2或TMEM151A基因突变引起。尽管近十年来PRRT2蛋白的功能已得到很好的描述，但PKD的确切病理生理机制仍不清楚。

在缺乏PRRT2的情况下，根据异常的离子通道和紊乱的突触传递，PKD可能是通道病变或突触病变，或两者兼而有之。此外，小脑被认为是关键的致病区域。小脑的去极化扩散与运动障碍发作密切相关。而在PKD中，除小脑外，大脑皮层和丘脑的作用也有待进一步研究。

附：英文原文

Title: Paroxysmal Kinesigenic Dyskinesia: Genetics and Pathophysiological Mechanisms

Author: Xu, Jiao-Jiao, Li, Hong-Fu, Wu, Zhi-Ying

Issue&Volume: 2023-12-13

Abstract: Paroxysmal kinesigenic dyskinesia (PKD), the most common type of paroxysmal movement disorder, is characterized by sudden and brief attacks of choreoathetosis or dystonia triggered by sudden voluntary movements. PKD is mainly caused by mutations in the PRRT2 or TMEM151A gene. The exact pathophysiological mechanisms of PKD remain unclear, although the function of PRRT2 protein has been well characterized in the last decade. Based on abnormal ion channels and disturbed synaptic transmission in the absence of PRRT2, PKD may be channelopathy or synaptopathy, or both. In addition, the cerebellum is regarded as the key pathogenic area. Spreading depolarization in the cerebellum is tightly associated with dyskinetic episodes. Whereas, in PKD, other than the cerebellum, the role of the cerebrum including the cortex and thalamus needs to be further investigated.

DOI: 10.1007/s12264-023-01157-z

Source: https://link.springer.com/article/10.1007/s12264-023-01157-z