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广泛性发育障碍认知缺陷的分子基础。

The molecular basis of cognitive deficits in pervasive developmental disorders.

机构信息

Center for Neural Science, New York University, New York, New York 10003, USA.

出版信息

Learn Mem. 2012 Aug 16;19(9):434-43. doi: 10.1101/lm.025007.111.

Abstract

Persons with pervasive developmental disorders (PDD) exhibit a range of cognitive deficits that hamper their quality of life, including difficulties involving communication, sociability, and perspective-taking. In recent years, a variety of studies in mice that model genetic syndromes with a high risk of PDD have provided insights into the underlying molecular mechanisms associated with these disorders. What is less appreciated is how the molecular anomalies affect neuronal and circuit function to give rise to the cognitive deficits associated with PDD. In this review, we describe genetic mutations that cause PDD and discuss how they alter fundamental social and cognitive processes. We then describe efforts to correct cognitive impairments associated with these disorders and identify areas of further inquiry in the search for molecular targets for therapeutics for PDD.

摘要

具有广泛发育障碍(PDD)的人表现出一系列认知缺陷,这些缺陷会影响他们的生活质量,包括在沟通、社交和换位思考方面存在困难。近年来,对具有 PDD 高风险的遗传综合征模型的老鼠进行的各种研究,为理解这些疾病相关的潜在分子机制提供了线索。人们不太了解的是,分子异常如何影响神经元和回路功能,从而导致与 PDD 相关的认知缺陷。在这篇综述中,我们描述了导致 PDD 的基因突变,并讨论了它们如何改变基本的社会和认知过程。然后,我们描述了纠正这些疾病相关认知障碍的努力,并确定了进一步研究的领域,以寻找治疗 PDD 的分子靶点。

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