脑性瘫痪肌张力障碍的症状基因

doi:10.11852/zgetbjzz2017-25-05-14

中国儿童保健杂志 ›› 2017, Vol. 25 ›› Issue (5): 481-485.DOI: 10.11852/zgetbjzz2017-25-05-14

脑性瘫痪肌张力障碍的症状基因

冯欢欢, 庞伟

佳木斯大学附属第三医院暨黑龙江省小儿脑瘫防治疗育中心,佳木斯大学康复医学院,佳木斯大学儿童神经康复实验室,黑龙江佳木斯 154002

收稿日期:2016-12-09 发布日期:2017-05-10 出版日期:2017-05-10
通讯作者: 庞伟,E-mail:pangwei76@aliyun.com
作者简介:冯欢欢(1989-),女,河南人,硕士研究生,主要研究方向为小儿脑损伤的发病机制和防治研究。
基金资助:
国家卫计委公益性行业科研专项(201302001); 佳木斯大学校级科技创新团队项目(Cxtd-2013-02)

Genes related to masqueraders of dystonic cerebral palsy

FENG Huan-huan, PANG Wei

Rehabilitation Medical Research Institute of Jiamusi University,Jiamusi,Heilongjiang 154002,China

Received:2016-12-09 Online:2017-05-10 Published:2017-05-10
Contact: PANG Wei,E-mail:pangwei76@aliyun.com

摘要/Abstract

摘要： 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。

关键词: 脑性瘫痪, 遗传因素, 症状基因

Abstract: 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 development 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.

Key words: cerebral palsy, genetic factors, symptamatic genes

中图分类号:

R179

冯欢欢, 庞伟. 脑性瘫痪肌张力障碍的症状基因[J]. 中国儿童保健杂志, 2017, 25(5): 481-485.

FENG Huan-huan, PANG Wei. Genes related to masqueraders of dystonic cerebral palsy[J]. journal1, 2017, 25(5): 481-485.

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脑性瘫痪肌张力障碍的症状基因

Genes related to masqueraders of dystonic cerebral palsy

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