Abstract：
Movement disorder (MD) is an important manifestation of neurologic Wilson disease (NWD), but there is a paucity of information on dopaminergic pathways. We evaluate dopamine and its receptors in patients with NWD and correlate the changes with MD and MRI changes. Twenty patients with NWD having MD were included. The severity of dystonia was assessed using BFM (Burke-Fahn-Marsden) score. The neurological severity of NWD was categorized as grades I to III based on the sum score of 5 neurological signs and activity of daily living. Dopamine concentration in plasma and CSF was measured using liquid chromatography-mass spectrometry, and D1 and D2 receptor expression at mRNA by reverse transcriptase polymerase chain reaction in patients and 20 matched controls. The median age of the patients was 15 years and 7 (35%) were females. Eighteen (90%) patients had dystonia and 2 (10%) had chorea. The CSF dopamine concentration (0.08 ± 0.02 vs 0.09 ± 0.017 pg/ml; p = 0.42) in the patients and controls was comparable, but D2 receptor expression was reduced in the patients (0.41 ± 0.13 vs 1.39 ± 1.04; p = 0.01). Plasma dopamine level correlated with BFM score (r = 0.592, p < 0.01) and D2 receptor expression with the severity of chorea (r = 0.447, p < 0.05). The neurological severity of WD correlated with plasma dopamine concentration (p = 0.006). Dopamine and its receptors were not related to MRI changes. The central nervous system dopaminergic pathway is not enhanced in NWD, which may be due to structural damage to the corpus striatum and/or substantia nigra.
摘要：
运动障碍（MD）是神经威尔逊病（NWD）的重要表现，但是关于多巴胺能途径的信息很少。我们评估了NWD患者的多巴胺及其受体，并将其变化与MD和MRI变化相关联。包括20名患有MD的NWD患者。使用BFM（Burke-Fahn-Marsden）评分评估肌张力障碍的严重程度。根据5种神经系统体征和日常生活活动的总和，NWD的神经系统严重程度分为I至III级。使用液相色谱-质谱法测量血浆和脑脊液中的多巴胺浓度，通过逆转录酶聚合酶链反应，患者和20个匹配的对照中D1和D2受体在mRNA上的表达。患者的中位年龄为15岁，7岁（35%）为女性。18例（90％）患者患有肌张力障碍，2例（10％）患有舞蹈病。患者和对照组的脑脊液多巴胺浓度（0.08±0.02vs0.09±0.017pg/ml；p=0.42）相当，但患者D2受体表达降低（0.41±0.13vs1.39±1.04；p=0.01）。血浆多巴胺水平与BFM评分相关(r=0.592,p<0.01),D2受体表达与舞蹈病严重程度相关(r=0.447,p<0.05)。WD的神经系统严重程度与血浆多巴胺浓度相关（p=0.006）。多巴胺及其受体与MRI改变无关。中枢神经系统多巴胺能通路在NWD中没有增强，这可能是由于纹状体和/或黑质的结构损伤。
