脑性瘫痪肌张力障碍的症状基因

Genes related to masqueraders of dystonic cerebral palsy

脑性脑瘫(CP)是造成儿童肢体残疾的主要疾病,其临床类型、合并症、神经影像学表现、病因及遗传变异都具有异质性。流行病学研究表明,大多数CP起源于先天而非后天,早产、宫内感染等高危因素对于具有遗传易感性的人可作为诱发因素。但是,在临床实践中,一些具有痉挛、共济失调或不随意运动表型等表现的运动障碍性疾病容易被误诊为CP,最重要的原因就是它们表现出"肌张力障碍"的共性特征。近年来,随着分子遗传学的快速发展(如染色体微阵列和第二代测序技术),数量空前的肌张力障碍新的基因被发现。在这里,为了与CP易感基因区别,将易"伪装"成CP的肌张力障碍疾病基因称为"CP症状基因",并对其研究进展进行综述,为后续的CP遗传病因学(尤其是肌张力障碍的遗传学原因)调查提供参考依据。

Cerebral palsy （CP） is heterogeneous with different clinical types, comorbidities, brain imaging patterns, causes,and now also heterogeneous underlying genetic variants. Epidemiological studies have shown that the origins of most CP are prior to labor. Clinical risk factors could act as triggers for CP where there is genetic susceptibility, such as preterm delivery,intrauterine infection,and so on. However, some movement disorders were misdiagnosed as CP in practice due to the coincident characteristics of ＂dystonia＂ ,representing spastic,ataxic or dyskinetic phenotype. Recently with the rapid de- velopment of molecular genetics （chromosome microarrays and second generation sequencing technology）,an unprecedented number of new dystonia genes have recently been described. Here,genes of CP masqueraders were labelled as ＂symptamatic genes of CP＂ correspond to susceptibility genes, reviewed the progress of research and provided a reference for the survey, especially the genetic etiology of subsequent dystonia.