Variable phenotype of rapid-onset dystonia-parkinsonism
Variable phenotype of rapid-onset dystonia-parkinsonism
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DOI：
10.1002/mds.870110206
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发表时间：
1996-03-01
影响因子：
8.6
通讯作者：
Dobyns, WB
中科院分区：
文献类型：
--
作者：
Brashear, A;Farlow, MR;Dobyns, WB
速发型肌张力障碍-帕金森综合征（RDP）是一种常染色体显性遗传疾病，其特征是肌张力障碍性痉挛和帕金森综合征在发病后数小时至数周内迅速发作。我们已经看到这个先前报道的家族中的另外两名成员患有RDP，他们在6-18个月内表现出更渐进的疾病进展。其中一人在病情初步稳定后2年出现症状快速进展。RDP表型是可变的，在某些情况下，表现可能是渐进的。这两个和其他家庭成员的脑脊液神经递质水平表明多巴胺能通路参与RDP。
Rapid-onset dystonia-parkinsonism (RDP) is an autosomal dominant disorder characterized by the rapid onset of dystonic spasms and parkinsonism over a period of a few hours to weeks after their onset. We have seen two additional members of this previously reported family with RDP who present with a more gradual progression of their disorder over 6-18 months. One of these individuals experienced the rapid progression of symptoms 2 years after an initial stabilization of his condition. The RDP phenotype is variable, and presentation may be gradual in some cases. Cerebrospinal fluid neurotransmitter levels in these two and other family members suggest involvement of the dopaminergic pathways in RDP.