人类拷贝数变异综合征的神经兴奋/抑制失衡和神经发育病理:系统综述。

IF 4.1 2区 医学 Q1 CLINICAL NEUROLOGY
Amy L Sylvester, Eva Hensenne, Dimo Ivanov, Benedikt A Poser, David E J Linden, Thérèse van Amelsvoort, Claudia Vingerhoets
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引用次数: 0

摘要

累积证据表明,神经发育障碍与之密切相关。这些疾病的风险增加了一系列拷贝数变异综合征-表型异质性遗传疾病,存在于少数人群中。最近的模型表明,兴奋性和抑制性神经活动之间平衡的破坏可能有助于神经发育障碍的病因学,并且可能在拷贝数变异综合征中额外受到干扰。在本系统综述中,检索了PubMed、Embase和Scopus数据库,寻找与人类拷贝数变异样本中神经发育障碍相关的兴奋/抑制失衡的研究。共纳入53项研究,代表了不同的拷贝数变体和研究方法。由此得出的数据表明,在不同拷贝数变异人群中,兴奋/抑制平衡确实被破坏,这为特发性和遗传性神经发育障碍的假定机制提供了见解。然而,数据集中的高度异质性,以及新兴的兴奋/抑制评估技术,促使该领域的进一步研究。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Neural excitation/inhibition imbalance and neurodevelopmental pathology in human copy number variant syndromes: a systematic review.

Cumulative evidence suggests neurodevelopmental disorders are closely related. The risk of these disorders is increased by a series of copy number variant syndromes - phenotypically heterogeneous genetic disorders, present in a minority of the population. Recent models suggest that a disruption in the balance between excitatory and inhibitory neural activity may contribute to the aetiology of neurodevelopmental disorders, and may be additionally disturbed in copy number variant syndromes. In this systematic review, the databases PubMed, Embase, and Scopus were searched for studies of excitation/inhibition imbalance in relation to neurodevelopmental disorders in human copy number variant samples. A total of 53 studies were included, representing a variety of copy number variants and research methodologies. The resulting data suggests excitation/inhibition balance is indeed disrupted in different copy number variant populations, providing insight into a putative mechanism of both idiopathic and genetic neurodevelopmental disorders. However, the high level of heterogeneity in the data set, alongside emerging techniques for excitation/inhibition assessment, prompts further investigation of this field.

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来源期刊
CiteScore
7.60
自引率
4.10%
发文量
58
审稿时长
>12 weeks
期刊介绍: Journal of Neurodevelopmental Disorders is an open access journal that integrates current, cutting-edge research across a number of disciplines, including neurobiology, genetics, cognitive neuroscience, psychiatry and psychology. The journal’s primary focus is on the pathogenesis of neurodevelopmental disorders including autism, fragile X syndrome, tuberous sclerosis, Turner Syndrome, 22q Deletion Syndrome, Prader-Willi and Angelman Syndrome, Williams syndrome, lysosomal storage diseases, dyslexia, specific language impairment and fetal alcohol syndrome. With the discovery of specific genes underlying neurodevelopmental syndromes, the emergence of powerful tools for studying neural circuitry, and the development of new approaches for exploring molecular mechanisms, interdisciplinary research on the pathogenesis of neurodevelopmental disorders is now increasingly common. Journal of Neurodevelopmental Disorders provides a unique venue for researchers interested in comparing and contrasting mechanisms and characteristics related to the pathogenesis of the full range of neurodevelopmental disorders, sharpening our understanding of the etiology and relevant phenotypes of each condition.
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