Autism spectrum disorders and neuropathology of the cerebellum.
Autism spectrum disorders and neuropathology of the cerebellum.
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DOI：
10.3389/fnins.2015.00420
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发表时间：
2015
影响因子：
4.3
通讯作者：
Blatt GJ
中科院分区：
文献类型：
--
作者：
Hampson DR;Blatt GJ
小脑包含中枢神经系统中所有结构中数量最多的神经元和突触。小脑只参与精细运动功能的观念已经过时了。大量证据表明小脑与包括语言在内的高级认知功能有关。二十多年来，小脑缺陷一直与自闭症有关。小脑的计算能力对于自闭症患者的许多（如果不是大多数）受到干扰的过程至关重要，包括语言和交流、社交互动、刻板行为、运动活动和运动协调以及高级认知功能。对于那些研究自闭症的细胞、生理和功能特性的人来说，自闭症和小脑功能障碍之间的联系并不奇怪。尸检研究揭示了小脑细胞结构的神经病理学异常，而对小脑浦肯野细胞细胞丢失或单基因突变的小鼠系的研究也强烈暗示这种大脑结构与自闭症表型有关。对人类仅限于小脑的脑损伤的研究进一步证实了这种联系。在这篇综述中，我们总结了特发性自闭症和自闭症的三种遗传形式的研究进展，强调了小脑在这一系列神经发育障碍中发挥的关键作用。
The cerebellum contains the largest number of neurons and synapses of any structure in the central nervous system. The concept that the cerebellum is solely involved in fine motor function has become outdated; substantial evidence has accumulated linking the cerebellum with higher cognitive functions including language. Cerebellar deficits have been implicated in autism for more than two decades. The computational power of the cerebellum is essential for many, if not most of the processes that are perturbed in autism including language and communication, social interactions, stereotyped behavior, motor activity and motor coordination, and higher cognitive functions. The link between autism and cerebellar dysfunction should not be surprising to those who study its cellular, physiological, and functional properties. Postmortem studies have revealed neuropathological abnormalities in cerebellar cellular architecture while studies on mouse lines with cell loss or mutations in single genes restricted to cerebellar Purkinje cells have also strongly implicated this brain structure in contributing to the autistic phenotype. This connection has been further substantiated by studies investigating brain damage in humans restricted to the cerebellum. In this review, we summarize advances in research on idiopathic autism and three genetic forms of autism that highlight the key roles that the cerebellum plays in this spectrum of neurodevelopmental disorders.