| 葛陈捷 雷礼磊 邬素萍 吴铮 唐春玲.突触后致密物基因与孤独症[J].,2015,15(7):1395-1397 |
| 突触后致密物基因与孤独症 |
| The Relationship between Postsynaptic Dense Gene and Autism |
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| DOI： |
| 中文关键词: 孤独症 突触后致密物 基因 |
| 英文关键词: Autism PSD Gene |
| 基金项目:国家自 然科学基金项目（ 30971045/C090302）； 教育部留学回国人员科研启动基金项目（ 37 批） |
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| 中文摘要: |
| 孤独症是一种病因不明的广泛性发育障碍疾病， 它是孤独症谱系障碍的代表疾病， 发病年龄早， 大多 在 3 岁 以内 起病， 以社
会交往障碍， 言语交流障碍，动作行为 的重复刻 板和兴趣范围 狭窄为 三大临床核心症状。 孤独症发病率呈逐年增高趋势，我国患
者量已超过一百万。 但是迄今为止仍没有特异的方法与 手段对孤独症进行彻底有效地诊治，为社会和家庭带来了 沉重的负 担，因
此，其发病机制是迫切需要研究的难题。 目前国际上公认为遗传因 素在孤独症的发病中起着重要作用 ，但对于致病基因的确定仍
不明确。突触后致密物(PSD)在中枢神经系统神经递质和信息的传递过程中起重要作用 ，影响学习 记忆及认知相关功能， 而孤独症
患者存在认知相关功能损伤的表现， 二者可能存在一定的联系。 本文对 PSD 基因 功能以及与 孤独症关系的研究加以综述， 希望有
助于孤独症的病因 学研究， 以期早日 改善该病的诊疗及预防。 |
| 英文摘要: |
| Autism is a pervasive developmental disorder with an unknown etiology. It is the representative of autism spectrum
disorders and the onset within 3 years old. The three prominent characteristic areas of malfunction of are impairments in social interaction, impairments in verbal communication and restricted repetitive and stereotyped patterns of behavior, interests and activities. Autism
has an increasing incidence, and the number of autism patients has already been more than one million in China. But now there is no specific way to cure autism and it is a heavy burden for the society and family. So its pathogenesis is an urgent need to study. However, most
researchers in the world has generally accepted that there is strong evidence for genetic components in the development of idiopath- ic
autism. But the role of gene in the pathogenesis of autism remains unclear. The PSD plays an important role in the transmission of neural
information. It affects learning, memory and cognitive function. It may have a certain relationship with autism. The function of PSD and
previous studies of PSD gene and autism will be reviewed in the article. It may be helpful to provide clues to the etiology re- search. |
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