Institute of Neurology, University College London, London, United Kingdom.
Mov Disord. 2014 Apr 15;29(5):673-83. doi: 10.1002/mds.25864.
Huntington's disease (HD) is an inherited autosomal dominant neurodegenerative disorder. The most prominent sign of HD is the presence of involuntary motor movements. However, HD is also characterized by marked cognitive decline, which often precedes the onset of motor symptoms and is generally considered to be more debilitating to the patients and their families, compared to motor symptoms. Cognitive decline is widespread across most faculties of cognition in later stages of the disease, but seems to be selective in preclinical and early stages of the disease, with deficits in the HD patients' ability to multitask, their speed of processing, and executive function. It is now well established that preceding clinical diagnosis there is a preclinical stage, during which HD gene mutation carriers are relatively symptom free, despite disease pathological onset and the presence of neurodegeneration. Evidence from functional brain imaging studies suggests the presence of neural compensation in preclinical stages of HD, whereby the brain undergoes functional reorganization in response to neurodegeneration to preserve motor and cognitive performance. In this review, we will describe the underlying HD pathology with a focus on how it links to the cognitive phenotype. We will also present evidence regarding the presence of neural compensation in HD and the possible mechanisms supporting it. Finally, we will discuss current research in the field of cognitive interventions that aim to support and enhance neural compensation in HD. These research efforts could, one day, prolong the preclinical stage and assist with symptom management of those affected with HD.
亨廷顿病(HD)是一种遗传性常染色体显性神经退行性疾病。HD 最突出的特征是存在不自主的运动。然而,HD 还表现出明显的认知能力下降,与运动症状相比,这通常会更早出现,并且对患者及其家属的影响更大。在疾病的后期,认知能力下降广泛存在于认知的大多数方面,但在疾病的临床前和早期阶段似乎具有选择性,表现为 HD 患者的多任务处理能力、处理速度和执行功能受损。现在已经明确,在临床诊断之前存在临床前阶段,在此期间,尽管疾病的病理发生和神经退行性变已经存在,但 HD 基因突变携带者相对没有症状。来自功能性脑成像研究的证据表明,在 HD 的临床前阶段存在神经补偿,即大脑会对神经退行性变做出功能性重组,以维持运动和认知表现。在这篇综述中,我们将描述 HD 的潜在病理学,重点介绍其与认知表型的联系。我们还将介绍有关 HD 中存在神经补偿的证据以及支持其的可能机制。最后,我们将讨论认知干预领域的当前研究,这些研究旨在支持和增强 HD 中的神经补偿。这些研究工作有朝一日可能会延长临床前阶段,并帮助那些受 HD 影响的人进行症状管理。