From the Department of Radiology (P.D., A.L.), Department of Neurology and Centre of Clinical Neuroscience (P.D., F.R.) and Fourth Department of Internal Medicine (R.B.), First Faculty of Medicine, Charles University and General University Hospital, Katerinska 30, 120 00, Prague 2, Czech Republic; Tenoke, Cambridge, England (J.A.C.); Department of Cybernetics, Faculty of Electrical Engineering, Czech Technical University in Prague, Prague, Czech Republic (T.S.); and Magnetic Resonance Unit, Department of Diagnostic and Interventional Radiology, Institute for Clinical and Experimental Medicine, Prague, Czech Republic (M.H., M.D.).
Radiology. 2021 Jun;299(3):662-672. doi: 10.1148/radiol.2021202846. Epub 2021 Mar 23.
Background Abnormal findings at brain MRI in patients with neurologic Wilson disease (WD) are characterized by signal intensity changes and cerebral atrophy. T2 signal hypointensities and atrophy are largely irreversible with treatment; their relationship with permanent disability has not been systematically investigated. Purpose To investigate associations of regional brain atrophy and iron accumulation at MRI with clinical severity in participants with neurologic WD who are undergoing long-term anti-copper treatment. Materials and Methods Participants with WD and controls were compared in a prospective study performed from 2015 to 2019. MRI at 3.0 T included three-dimensional T1-weighted and six-echo multigradient-echo pulse sequences for morphometry and quantitative susceptibility mapping, respectively. Neurologic severity was assessed with the Unified WD Rating Scale (UWDRS). Automated multi-atlas segmentation pipeline with dual contrast (susceptibility and T1) was used for the calculation of volumes and mean susceptibilities in deep gray matter nuclei. Additionally, whole-brain analysis using deformation and surface-based morphometry was performed. Least absolute shrinkage and selection operator regression was used to assess the association of regional volumes and susceptibilities with the UWDRS score. Results Twenty-nine participants with WD (mean age, 47 years ± 9 [standard deviation]; 15 women) and 26 controls (mean age, 45 years ± 12; 14 women) were evaluated. Whole-brain analysis demonstrated atrophy of the deep gray matter nuclei, brainstem, internal capsule, motor cortex and corticospinal pathway, and visual cortex and optic radiation in participants with WD ( < .05 at voxel level, corrected for family-wise error). The UWDRS score was negatively correlated with volumes of putamen ( = -0.63, < .001), red nucleus ( = -0.58, = .001), globus pallidus ( = -0.53, = .003), and substantia nigra ( = -0.50, = .006) but not with susceptibilities. Only the putaminal volume was identified as a stable factor associated with the UWDRS score ( = 0.38, < .001) using least absolute shrinkage and selection operator regression. Conclusion Individuals with Wilson disease (WD) had widespread brain atrophy most pronounced in the central structures. The putaminal volume was associated with the Unified WD Rating Scale score and can be used as a surrogate imaging marker of clinical severity. © RSNA, 2021 See also the editorial by Du and Bydder in this issue.
背景 神经型威尔逊病（WD）患者的脑部 MRI 异常表现为信号强度变化和脑萎缩。经治疗，T2 信号低信号和萎缩在很大程度上是不可逆的；其与永久性残疾的关系尚未得到系统研究。目的 探讨长期接受抗铜治疗的神经型 WD 患者脑 MRI 显示的区域性脑萎缩和铁沉积与临床严重程度的关系。材料与方法 本前瞻性研究于 2015 年至 2019 年进行，纳入 WD 患者和对照组参与者。3.0 T MRI 采用三维 T1 加权和六回波多梯度回波脉冲序列进行形态计量学和定量磁敏感图分析。采用统一 WD 评分量表（UWDRS）评估神经严重程度。采用双对比度（磁敏感和 T1）自动多图谱分割流水线计算深部灰质核的体积和平均磁化率。此外，还进行了基于变形和表面形态计量学的全脑分析。采用最小绝对收缩和选择算子回归评估各脑区体积和磁化率与 UWDRS 评分的相关性。结果 29 例 WD 患者（平均年龄 47 岁±9 岁；15 例女性）和 26 例对照组参与者（平均年龄 45 岁±12 岁；14 例女性）接受了评估。全脑分析显示 WD 患者深部灰质核、脑干、内囊、运动皮质和皮质脊髓束以及视皮质和视辐射存在萎缩（体素水平校正为全脑错误率校正后，<.05）。UWDRS 评分与壳核（ = -0.63，<.001）、红核（ = -0.58，<.001）、苍白球（ = -0.53，<.003）和黑质（ = -0.50，<.006）体积呈负相关，但与磁化率无关。最小绝对收缩和选择算子回归分析仅显示壳核体积与 UWDRS 评分相关（ = 0.38，<.001），是稳定的影响因素。结论 WD 患者存在广泛的脑萎缩，以中央结构最为明显。壳核体积与统一 WD 评分量表评分相关，可作为临床严重程度的替代影像学标志物。 © 2021 RSNA，由 Du 和 Bydder 于本期杂志撰写的社论一并参见。
