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Brain Dopamine-Serotonin Vesieular Transport Disease and Its Treatment

机译:脑多巴胺-5-羟色胺血管运输疾病及其治疗

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摘要

We describe a disease encompassing infantile-onset movement disorder (including severe parkinsonism and nonambulation), mood disturbance, autonomic instability, and developmental delay, and we describe evidence supporting its causation by a mutation in SLC18A2 (which encodes vesicular monoamine transporter 2 [VMAT2]). VMAT2 translocates dopamine and serotonin into synaptic vesicles and is essential for motor control, stable mood, and autonomic function. Treatment with levodopa was associated with worsening, whereas treatment with direct dopamine agonists was followed by immediate ambulation, near-complete correction of the movement disorder, and resumption of development.
机译:我们描述了一种疾病,包括婴儿发作性运动障碍(包括严重的帕金森氏症和无行为感),情绪障碍,自主神经不稳定和发育迟缓,并且我们描述了SLC18A2(编码水泡单胺转运蛋白2 [VMAT2]的突变)支持其病因的证据。 )。 VMAT2将多巴胺和5-羟色胺转运到突触小泡中,对于运动控制,稳定的情绪和自主神经功能至关重要。左旋多巴的治疗与病情恶化相关,而直接多巴胺激动剂的治疗则是立即下床活动,运动障碍的接近完全矫正和恢复发育。

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