PRRT2基因相关发作性疾病

PRRT2 gene-related paroxysmal disorders

PRRT2基因是发作性运动诱发性运动障碍（paroxysmal kinesigenic dyskinesias，PKD）、良性家族性婴儿癫痫（benign familial infantile seizures，BFIS）和婴儿惊厥伴发作性手足舞蹈徐动征（infantile convulsions with paroxysmal choreoathetosis，ICCA）的主要致病基因，在多种神经系统发作性疾病中也发现了该基因的致病突变。PRRT2突变导致的疾病由于源于同一致病基因可能具有一些共性，为了方便该类疾病的临床及科学研究、指导治疗和评估预后，PRRT2相关发作性疾病（PRRT2-related paroxysmal disorders，PRPDs）这一临床疾病谱概念应运而生。拟对PRRT2相关发作性疾病的临床表型、发病机制、共有特点及意义等研究进行综述，以阐明这一临床疾病谱内疾病的发病机制，为疾病的诊断和治疗提供帮助。

Proline-rich transmembrane protein 2 （PRRT2）, the causative gene of paroxysmal kinesigenic dyskinesias （PKD）, benign familial infantile seizures （BFIS） and infantile convulsions with paroxysmal choreoathetosis （ICCA）, also causes a variety of neurological paroxysmal disorders. These diseases share the same characteristics which may be due to the same genetic defect. We therefore propose to name them as PRRT2-related paroxysmal disorders （PRPDs） in order to assist clinical diagnosis, treatment and prognosis. This paper has reviewed the clinical phenotype, common features and pathogenesis of the PRPDs.