Department of Neurology, Leiden University Medical Center, Leiden, the Netherlands.
Department of Radiology, Leiden University Medical Center, Leiden, the Netherlands.
Hum Brain Mapp. 2018 Dec;39(12):4776-4786. doi: 10.1002/hbm.24322. Epub 2018 Aug 24.
Huntington's disease (HD) is an autosomal-dominant inherited neurodegenerative disorder characterized by motor disturbances, psychiatric disturbances, and cognitive impairment. Visual cognitive deficits and atrophy of the posterior cerebral cortex are additionally present in early disease stages. This study aimed to assess the extent of structural and functional brain alterations of the visual cortex in HD gene carriers using different neuroimaging modalities. Structural and functional magnetic resonance imaging data were acquired from 18 healthy controls, 21 premanifest, and 20 manifest HD gene carriers. Voxel-based morphometry (VBM) analysis and cortical thickness measurements were performed to assess structural changes in the visual cortex. Brain function was measured by assessing neuronal connectivity changes in response to visual stimulation and at rest in visual resting-state networks. Multiple linear regression analyses were performed to examine the relationship between visual cognitive function and structural imaging measures. Compared to controls, pronounced atrophy and decreased neuronal function at rest were present in associative visual cortices in manifest HD. The primary visual cortex did not show group differences in cortical thickness and in vascular activity after visual stimulation. Thinning of the associative visual cortex was related to worse visual perceptual function. Premanifest HD gene carriers did not show any differences in brain structure or function compared to controls. This study improves the knowledge on posterior brain changes in HD, as our findings suggest that the primary visual cortex remains preserved, both structurally and functionally, while atrophy of associative visual cortices is present in early HD and linked to clinical visual deficits.
亨廷顿病（HD）是一种常染色体显性遗传的神经退行性疾病，其特征是运动障碍、精神障碍和认知障碍。在后脑皮层的早期疾病阶段还存在视觉认知缺陷和萎缩。本研究旨在使用不同的神经影像学方法评估 HD 基因携带者视觉皮层的结构和功能脑改变的程度。从 18 名健康对照者、21 名前显型和 20 名显型 HD 基因携带者中获得结构和功能磁共振成像数据。进行基于体素的形态测量学（VBM）分析和皮质厚度测量，以评估视觉皮层的结构变化。通过评估视觉刺激和视觉静息状态网络中神经元连接变化来测量大脑功能。进行多元线性回归分析，以检查视觉认知功能与结构成像测量之间的关系。与对照组相比，在显型 HD 中，关联视觉皮层表现出明显的萎缩和静息时神经元功能下降。初级视觉皮层在皮质厚度和视觉刺激后的血管活性方面没有表现出组间差异。关联视觉皮层变薄与视觉感知功能下降有关。与对照组相比，前显型 HD 基因携带者在大脑结构或功能方面没有差异。本研究提高了对 HD 后脑改变的认识，因为我们的发现表明，原发性视觉皮层在结构和功能上都保持完整，而在早期 HD 中，关联视觉皮层的萎缩与临床视觉缺陷有关。
