Stezin Albert, George Lija, Jhunjhunwala Ketan, Lenka Abhishek, Saini Jitender, Netravathi M, Yadav Ravi, Pal Pramod Kumar
Department of Neurology, National Institute of Mental Health & Neurosciences, Hosur Road, Bangalore, 560029, Karnataka, India; Department of Clinical Neurosciences, National Institute of Mental Health & Neurosciences, Hosur Road, Bangalore, 560029, Karnataka, India.
Department of Neurology, National Institute of Mental Health & Neurosciences, Hosur Road, Bangalore, 560029, Karnataka, India.
Parkinsonism Relat Disord. 2016 Sep;30:52-7. doi: 10.1016/j.parkreldis.2016.06.017. Epub 2016 Jun 21.
To determine cortical grey matter (GM) changes and their clinical and biochemical correlates in patients with Wilson's disease using voxel based morphometry (VBM).
Clinical and imaging data of 10 patients (all male, mean age 16.0 ± 6.3years) with Wilson's Disease were analyzed. T1W volumetric MRI data of patients without obvious cortical atrophy or signal changes on conventional MRI was compared with MRI of 11 matched control subjects using VBM analysis with Statistical Parametric Mapping 8. Results were expressed at statistical threshold of p < 0.05 (FWE corrected) and p < 0.001 (uncorrected). Multiple regression analysis was done to analyze possible relation between GM atrophy, duration of disease and biochemical abnormalities.
Compared to controls, patients showed scattered areas of reduced GM volume in bilateral caudate head, medial part of right globus pallidus and body of right caudate (FWE corrected p < 0.05). At p < 0.001(uncorrected) widespread areas of cortical atrophy were also noted involving the frontal and temporal lobes, lentiform nuclei, cerebellum and thalamus. Significant positive correlation (uncorrected p < 0.001) were noted between (i) duration of disease and cortical GM volume of frontal, parietal and temporal lobes and cerebellum (ii) serum copper levels and GM volume of right medial frontal gyrus and paracentral lobule.
To the best of our knowledge, this is the first VBM study in patients with Wilson's disease. In spite of apparently normal cortex on visual inspection of MRI, decreased cortical GM volume was detected using VBM. In addition, serum copper may act as surrogate marker of cortical abnormalities in Wilson's disease.
运用基于体素的形态学测量（VBM）方法，确定肝豆状核变性患者皮质灰质（GM）的变化及其临床和生化相关性。
分析10例肝豆状核变性患者（均为男性，平均年龄16.0±6.3岁）的临床和影像数据。使用统计参数映射8软件进行VBM分析，将常规MRI上无明显皮质萎缩或信号改变的患者的T1加权容积MRI数据与11名匹配对照者的MRI数据进行比较。结果以p<0.05（FWE校正）和p<0.001（未校正）的统计阈值表示。进行多元回归分析以分析GM萎缩、疾病持续时间和生化异常之间的可能关系。
与对照组相比，患者双侧尾状核头部、右侧苍白球内侧部和右侧尾状核体部出现散在的GM体积减小区域（FWE校正p<0.05）。在p<0.001（未校正）时，还发现广泛的皮质萎缩区域，累及额叶、颞叶、豆状核、小脑和丘脑。在（i）疾病持续时间与额叶、顶叶、颞叶和小脑的皮质GM体积之间，以及（ii）血清铜水平与右侧额内侧回和中央旁小叶的GM体积之间，发现显著正相关（未校正p<0.001）。
据我们所知，这是首例针对肝豆状核变性患者的VBM研究。尽管MRI视觉检查时皮质看似正常，但使用VBM检测到皮质GM体积减小。此外，血清铜可能作为肝豆状核变性患者皮质异常的替代标志物。
