Südmeyer Martin, Saleh Andreas, Wojtecki Lars, Cohnen Mathias, Gross Joachim, Ploner Markus, Hefter Harald, Timmermann Lars, Schnitzler Alfons
Department of Neurology, Heinrich-Heine University, Düsseldorf, Germany.
Mov Disord. 2006 Dec;21(12):2134-9. doi: 10.1002/mds.21136.
Wilson's disease (WD) is an inherited disorder of copper metabolism yielding marked motor deficits, including a severely disabling tremor. As a structural correlate of the disease, a variety of cerebral abnormalities has been revealed. However, the relationship between motor deficits and cerebral lesions has remained largely unknown. Here, we investigated correlation between WD tremor and cerebral magnetic resonance imaging (MRI) findings. Cerebral MRI abnormalities in 6 symptomatic WD patients were compared to findings in 6 asymptomatic WD patients and 10 healthy controls. All patients were treated with long-term copper chelating therapy. Motor symptoms including tremor were determined by Unified Parkinson's Disease Rating Scale Part III (UPDRS-III). MRI findings in symptomatic WD patients revealed significant symmetric T2*-weighted hypointense signal alterations of globus pallidus, head of the caudate nucleus, and substantia nigra. In contrast, MRI of asymptomatic WD patients did not differ from healthy controls. Correlation analysis revealed a significant positive correlation between MRI basal ganglia lesions and UPDRS action tremor score. Our results demonstrate for the first time that Wilson's disease tremor is associated with lesions of the globus pallidus, the head of the caudate nucleus, and the substantia nigra.
威尔逊病（WD）是一种遗传性铜代谢紊乱疾病，会导致明显的运动功能障碍，包括严重致残的震颤。作为该疾病的一种结构关联，已发现多种脑部异常情况。然而，运动功能障碍与脑部病变之间的关系在很大程度上仍不清楚。在此，我们研究了WD震颤与脑磁共振成像（MRI）结果之间的相关性。将6名有症状的WD患者的脑部MRI异常情况与6名无症状的WD患者及10名健康对照者的检查结果进行了比较。所有患者均接受了长期的铜螯合治疗。包括震颤在内的运动症状由统一帕金森病评定量表第三部分（UPDRS-III）确定。有症状的WD患者的MRI结果显示，苍白球、尾状核头部和黑质在T2*加权像上有明显的对称性低信号改变。相比之下，无症状WD患者的MRI与健康对照者并无差异。相关性分析显示，MRI基底节病变与UPDRS动作性震颤评分之间存在显著正相关。我们的结果首次表明，威尔逊病震颤与苍白球、尾状核头部和黑质的病变有关。
