Department of Neurology, Columbia University, New York, NY, USA.
Department of Pathology and Cell Biology, Columbia University, New York, NY, USA.
J Huntingtons Dis. 2021;10(2):227-238. doi: 10.3233/JHD-200466.
Although Huntington's disease (HD) is classically considered from the perspective of the motor syndrome, the cognitive changes in HD are prominent and often an early manifestation of disease. As such, investigating the underlying pathophysiology of cognitive changes may give insight into important and early neurodegenerative events. In this review, we first discuss evidence from both HD patients and animal models that cognitive changes correlate with early pathological changes at the synapse, an observation that is similarly made in other neurodegenerative conditions that primarily affect cognition. We then describe how autophagy plays a critical role supporting synaptic maintenance in the healthy brain, and how autophagy dysfunction in HD may thereby lead to impaired synaptic maintenance and thus early manifestations of disease.
虽然亨廷顿病(HD)通常被认为是一种运动综合征,但 HD 患者的认知变化非常显著,且通常是疾病的早期表现。因此,研究认知变化的潜在病理生理学可能有助于深入了解重要的早期神经退行性事件。在这篇综述中,我们首先讨论了来自 HD 患者和动物模型的证据,这些证据表明认知变化与突触的早期病理变化相关,这一观察结果在其他主要影响认知的神经退行性疾病中也同样存在。然后,我们描述了自噬在支持健康大脑中突触维持方面发挥的关键作用,以及 HD 中的自噬功能障碍如何导致突触维持受损,从而导致疾病的早期表现。