Brashear A, Butler I J, Hyland K, Farlow M R, Dobyns W B
Department of Neurology, Indiana University School of Medicine, Indianapolis, USA.
Ann Neurol. 1998 Apr;43(4):521-6. doi: 10.1002/ana.410430417.
Rapid-onset dystonia-parkinsonism (RDP) is characterized by sudden onset over hours to days of dystonia, dysphagia, dysarthria, and parkinsonism. RDP has been reported by our group in two apparently unrelated families. We now report analysis of cerebrospinal fluid metabolites of dopamine, norepinephrine, and serotonin for mild and severely affected individuals, known asymptomatic gene carriers, and at-risk individuals from both families with RDP. Levels of the dopamine metabolite homovanillic acid (HVA) were decreased in severely affected patients and in some asymptomatic gene carriers. HVA levels increased with treatment in some affected individuals, but this increase did not predict clinical response to carbidopa/levodopa. We suggest that a low HVA level is a biological marker with modest association to the diagnosis of RDP.
快速起病性肌张力障碍-帕金森综合征（RDP）的特征是在数小时至数天内突然出现肌张力障碍、吞咽困难、构音障碍和帕金森综合征。我们团队在两个明显无亲缘关系的家族中报告过RDP。我们现在报告对来自这两个RDP家族的轻度和重度受累个体、已知的无症状基因携带者以及高危个体的脑脊液中多巴胺、去甲肾上腺素和5-羟色胺代谢物的分析。多巴胺代谢物高香草酸（HVA）水平在重度受累患者和一些无症状基因携带者中降低。在一些受累个体中，HVA水平随治疗而升高，但这种升高并不能预测对卡比多巴/左旋多巴的临床反应。我们认为低HVA水平是与RDP诊断有适度关联的生物学标志物。
