Department of Molecular Neuroscience, Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, UK.
Postgraduate Program in Medicine, Universidade Nove de Julho, Uninove, São Paulo, Brazil.
Dev Med Child Neurol. 2018 Jun;60(6):559-565. doi: 10.1111/dmcn.13744. Epub 2018 Mar 30.
As a consequence of the genomic revolution, a large number of publications describing paroxysmal movement disorders have been published in the last few years, shedding light on their molecular pathology. Routine gene testing is not necessary to guide treatment for typical forms of paroxysmal kinesigenic dyskinesia (PKD), paroxysmal nonkinesigenic dyskinesia (PNKD), and episodic ataxia type 1 or 2. It can, however, be helpful in the management of atypical or complex cases, especially for genetic counselling, treatment strategies, and the offer of preimplantation genetic diagnosis. Antiepileptic drugs remain the treatment of choice for PKD and episodic ataxia type 1, benzodiazepines are often useful for PNKD, and episodic ataxia type 2 benefits from acetazolamide regardless of the genetic etiology.
A growing number of genes have been associated with classic and newly described paroxysmal movement disorders. Paroxysmal movement disorders share common mechanisms and clinical features with other neurological paroxysmal phenomena including epilepsy and migraine.
由于基因组革命的结果，过去几年发表了大量描述阵发性运动障碍的出版物，揭示了其分子病理学。对于典型的阵发性运动诱发性运动障碍 (PKD)、阵发性非运动诱发性运动障碍 (PNKD) 和 1 型或 2 型发作性共济失调，常规基因检测并非必要以指导治疗。然而，对于非典型或复杂病例，它可能有助于管理，特别是进行遗传咨询、治疗策略和提供植入前基因诊断。抗癫痫药物仍然是 PKD 和 1 型发作性共济失调的治疗选择，苯二氮䓬类药物常用于 PNKD，而无论遗传病因如何，乙酰唑胺都对 2 型发作性共济失调有益。
越来越多的基因与经典和新描述的阵发性运动障碍有关。阵发性运动障碍与其他神经发作性现象（包括癫痫和偏头痛）具有共同的机制和临床特征。
