The Cerebellar Involvement in Autism Spectrum Disorders: From the Social Brain to Mouse Models.
The Cerebellar Involvement in Autism Spectrum Disorders: From the Social Brain to Mouse Models.
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小脑参与自闭症谱系障碍：从社交大脑到小鼠模型。
DOI：
10.3390/ijms23073894
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发表时间：
2022-03-31
影响因子：
5.6
通讯作者：
Prestori F
中科院分区：
文献类型：
--
作者：
Mapelli L;Soda T;D'Angelo E;Prestori F
自闭症谱系障碍（ASD）是一种普遍的神经发育障碍，包括多种形式和临床表型。这种异质性使ASD病因和病理生理学的临床和实验方法复杂化。迄今为止，这些疾病的统一理论仍然缺失。尽管如此，在过去的几十年里，研究人员和临床医生的紧张工作已经确定了一些ASD的特征和涉及的主要大脑区域。毫不奇怪，所谓的“社会大脑”的一部分，以及那些与之紧密相连的区域，如前额叶皮层、杏仁核、海马体、边缘系统和多巴胺能通路，被发现是至关重要的。随着最近对小脑对认知功能和社会脑的贡献的承认，它在ASD中的参与已经变得明确无误，尽管其程度仍有待阐明。在大多数情况下，最近的技术发展在人类大脑的结构/功能评估和使用ASD的小鼠模型方面取得了重大进展。小鼠模型是一种宝贵的工具，可以深入了解疾病的分子和细胞对应物，作用于产生asd样表型的特定遗传背景。鉴于ASD及其相关研究的多面性，通常很难浏览文献并将大量内容限制在特定问题上。本综述从小脑与社会脑区（ASD损伤的主要部位）的联系到单基因小鼠模型的使用，满足了对ASD中小脑参与的有组织、清晰和最先进的视角的需求。
Autism spectrum disorders (ASD) are pervasive neurodevelopmental disorders that include a variety of forms and clinical phenotypes. This heterogeneity complicates the clinical and experimental approaches to ASD etiology and pathophysiology. To date, a unifying theory of these diseases is still missing. Nevertheless, the intense work of researchers and clinicians in the last decades has identified some ASD hallmarks and the primary brain areas involved. Not surprisingly, the areas that are part of the so-called “social brain”, and those strictly connected to them, were found to be crucial, such as the prefrontal cortex, amygdala, hippocampus, limbic system, and dopaminergic pathways. With the recent acknowledgment of the cerebellar contribution to cognitive functions and the social brain, its involvement in ASD has become unmistakable, though its extent is still to be elucidated. In most cases, significant advances were made possible by recent technological developments in structural/functional assessment of the human brain and by using mouse models of ASD. Mouse models are an invaluable tool to get insights into the molecular and cellular counterparts of the disease, acting on the specific genetic background generating ASD-like phenotype. Given the multifaceted nature of ASD and related studies, it is often difficult to navigate the literature and limit the huge content to specific questions. This review fulfills the need for an organized, clear, and state-of-the-art perspective on cerebellar involvement in ASD, from its connections to the social brain areas (which are the primary sites of ASD impairments) to the use of monogenic mouse models.
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