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基底神经节与自闭症——转化医学视角

Basal ganglia and autism - a translational perspective.

机构信息

Program on Neuroscience, Hussman Institute for Autism, Baltimore, MD, 21201.

Program on Supports, Hussman Institute for Autism, Catonsville, MD, 21228.

出版信息

Autism Res. 2017 Nov;10(11):1751-1775. doi: 10.1002/aur.1837. Epub 2017 Jul 21.

Abstract

UNLABELLED

The basal ganglia are a collection of nuclei below the cortical surface that are involved in both motor and non-motor functions, including higher order cognition, social interactions, speech, and repetitive behaviors. Motor development milestones that are delayed in autism such as gross motor, fine motor and walking can aid in early diagnosis of autism. Neuropathology and neuroimaging findings in autism cases revealed volumetric changes and altered cell density in select basal ganglia nuclei. Interestingly, in autism, both the basal ganglia and the cerebellum are impacted both in their motor and non-motor domains and recently, found to be connected via the pons through a short disynaptic pathway. In typically developing individuals, the basal ganglia plays an important role in: eye movement, movement coordination, sensory modulation and processing, eye-hand coordination, action chaining, and inhibition control. Genetic models have proved to be useful toward understanding cellular and molecular changes at the synaptic level in the basal ganglia that may in part contribute to these autism-related behaviors. In autism, basal ganglia functions in motor skill acquisition and development are altered, thus disrupting the normal flow of feedback to the cortex. Taken together, there is an abundance of emerging evidence that the basal ganglia likely plays critical roles in maintaining an inhibitory balance between cortical and subcortical structures, critical for normal motor actions and cognitive functions. In autism, this inhibitory balance is disturbed thus impacting key pathways that affect normal cortical network activity. Autism Res 2017, 10: 1751-1775. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.

LAY SUMMARY

Habit learning, action selection and performance are modulated by the basal ganglia, a collection of groups of neurons located below the cerebral cortex in the brain. In autism, there is emerging evidence that parts of the basal ganglia are structurally and functionally altered disrupting normal information flow. The basal ganglia through its interconnected circuits with the cerebral cortex and the cerebellum can potentially impact various motor and cognitive functions in the autism brain.

摘要

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基底神经节是位于皮质表面下方的一组核团,参与运动和非运动功能,包括高级认知、社交互动、言语和重复行为。自闭症中延迟的运动发育里程碑,如粗大运动、精细运动和行走,可以帮助早期诊断自闭症。自闭症病例的神经病理学和神经影像学发现揭示了选择基底神经节核团的体积变化和细胞密度改变。有趣的是,在自闭症中,基底神经节和小脑在其运动和非运动领域都受到影响,最近发现通过短的双突触通路通过脑桥连接。在正常发育的个体中,基底神经节在:眼球运动、运动协调、感觉调制和处理、眼手协调、动作链和抑制控制中发挥重要作用。遗传模型已被证明对理解基底神经节突触水平的细胞和分子变化非常有用,这些变化可能部分导致与自闭症相关的行为。在自闭症中,运动技能获得和发展的基底神经节功能发生改变,从而破坏了向皮质的正常反馈。综上所述,有大量新出现的证据表明,基底神经节可能在维持皮质和皮质下结构之间的抑制平衡中发挥关键作用,这对于正常的运动动作和认知功能至关重要。在自闭症中,这种抑制平衡被打乱,从而影响到影响正常皮质网络活动的关键途径。自闭症研究 2017, 10: 1751-1775。©2017 国际自闭症研究协会,威利期刊,公司。

概述

习惯学习、动作选择和表现受基底神经节的调节,基底神经节是大脑中位于大脑皮质下方的一组神经元群。在自闭症中,有新出现的证据表明,部分基底神经节在结构和功能上发生改变,扰乱了正常的信息流。基底神经节通过其与大脑皮层和小脑的相互连接的电路,可能会影响自闭症大脑的各种运动和认知功能。

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