Wilson’s disease (WD) is an inherited autosomal recessive disorder of copper metabolism, and its neurological and neuropsychiatric manifestations are associated with copper accumulation in brain. A few neuroimaging studies have shown that gray matter atrophy in WD affects both subcortical structures and cortex. This study aims to quantitatively evaluate the morphometric brain abnormalities in patients with WD in terms of whole brain volume and cortical thickness and their associations with clinical severity of WD. Thirty patients clinically diagnosed as WD with neurological manifestations and 25 healthy controls (HC) were recruited. 3D T1-weighted images were segmented into 276 whole-brain regions of interest (ROIs) and 68 cortical ROIs. WD-vs-HC group comparisons were then conducted for each ROI. The associations between those morphometric measurements and the Global Assessment Scale (GAS) score for WD were analyzed. Compared with HC, significant WD-related volumetric decreases were found in the bilateral subcortical nuclei (putamen, globus pallidus, caudate nucleus, substantia nigra, red nucleus and thalamus), diffuse white matter and several gray matter regions. WD patients showed reduced cortical thickness in the left precentral gyrus and the left insula. Further, the volumes of the right globus pallidus, bilateral putamen, right external capsule and left superior longitudinal fasciculus were negatively correlated with GAS. Our results indicated that significant WD-related morphometric abnormalities were quantified in terms of whole-brain volumes and cortical thicknesses, some of which correlated significantly to the clinical severity of WD. Those morphometrics may provide a potentially effective biomarker of WD.

威尔逊病 (WD) 是一种遗传性铜代谢的常染色体隐性遗传病，其神经和神经精神表现与脑内铜积累有关。一些神经影像学研究表明，WD 的灰质萎缩会影响皮层下结构和皮层。本研究旨在从全脑体积和皮质厚度及其与 WD 临床严重程度的关联方面定量评估 WD 患者的脑形态测量异常。招募了 30 名临床诊断为具有神经系统表现的 WD 患者和 25 名健康对照 (HC)。3D T1 加权图像被分割成 276 个全脑感兴趣区域 (ROI) 和 68 个皮质 ROI。然后对每个 ROI 进行 WD-vs-HC 组比较。分析了这些形态测量测量值与 WD 的全球评估量表 (GAS) 评分之间的关​​联。与 HC 相比，在双侧皮质下核（壳核、苍白球、尾状核、黑质、红核和丘脑）、弥漫性白质和几个灰质区域中发现与 WD 相关的显着体积减少。WD 患者的左侧中央前回和左侧脑岛的皮质厚度减少。此外，右侧苍白球、双侧壳核、右侧外囊和左侧上纵束的体积与 GAS 呈负相关。我们的结果表明，与 WD 相关的显着形态测量异常在全脑体积和皮质厚度方面被量化，其中一些与 WD 的临床严重程度显着相关。这些形态测量学可能提供一种潜在有效的 WD 生物标志物。