de Gusmão Claudio M, Garcia Lucas, Mikati Mohamad A, Su Samantha, Silveira-Moriyama Laura
Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States.
Department of Neurology, Universidade Estadual de Campinas (UNICAMP), São Paulo, Brazil.
Front Neurol. 2021 Mar 23;12:648031. doi: 10.3389/fneur.2021.648031. eCollection 2021.
Paroxysmal movement disorders include paroxysmal kinesigenic dyskinesia, paroxysmal non-kinesigenic dyskinesia, paroxysmal exercise-induced dyskinesia, and episodic ataxias. In recent years, there has been renewed interest and recognition of these disorders and their intersection with epilepsy, at the molecular and pathophysiological levels. In this review, we discuss how these distinct phenotypes were constructed from a historical perspective and discuss how they are currently coalescing into established genetic etiologies with extensive pleiotropy, emphasizing clinical phenotyping important for diagnosis and for interpreting results from genetic testing. We discuss insights on the pathophysiology of select disorders and describe shared mechanisms that overlap treatment principles in some of these disorders. In the near future, it is likely that a growing number of genes will be described associating movement disorders and epilepsy, in parallel with improved understanding of disease mechanisms leading to more effective treatments.
发作性运动障碍包括发作性运动诱发性运动障碍、发作性非运动诱发性运动障碍、发作性运动诱发的运动障碍和发作性共济失调。近年来，在分子和病理生理学层面，人们对这些疾病及其与癫痫的交叉关系重新产生了兴趣并获得了认识。在这篇综述中，我们从历史角度讨论这些不同表型是如何构建的，并讨论它们目前如何合并为具有广泛多效性的既定遗传病因，强调临床表型分析对于诊断和解释基因检测结果的重要性。我们讨论了对某些疾病病理生理学的见解，并描述了一些这些疾病中重叠治疗原则的共同机制。在不久的将来，可能会有越来越多的基因被描述与运动障碍和癫痫相关联，同时对疾病机制的理解也会得到改善，从而带来更有效的治疗方法。
