Institute of Neurogenetics, University of Lübeck, Lübeck, Germany; Department of Neurology, University of Lübeck, Lübeck, Germany.
Institute of Neurogenetics, University of Lübeck, Lübeck, Germany; Department of Neurology, University of Lübeck, Lübeck, Germany.
Parkinsonism Relat Disord. 2014 Apr;20(4):428-31. doi: 10.1016/j.parkreldis.2013.12.014. Epub 2014 Jan 9.
Dopa-responsive dystonia (DRD) is a young-onset neurometabolic disorder often presenting with a combination of parkinsonism and dystonia. The pathophysiology includes an impairment of dopaminergic and serotonergic neurotransmission. Uncontrolled reports suggest an increased frequency of neuropsychiatric abnormalities and sleep impairment.
In 23 GCH1 mutation-positive DRD patients and 26 healthy controls, non-motor features and their effect on the quality of life (QoL) were assessed. Six patients underwent polysomnography (PSG).
Depressive and anxiety symptoms were not more common among DRD patients. Average sleep quality was similar across groups. This was also true for self-reported mean sleep onset (27.5 vs. 27.1 min) and total sleep time (6.5 vs. 6.6 h). Upon PSG, the number of spontaneous arousals was increased in four patients. QoL was impaired with respect to physical health. Sleep impairment and depressive but not anxiety symptoms were associated with lower QoL.
The present results do not confirm the clinical impression and biologically plausible assumption of an increased frequency of non-motor symptoms in DRD. The impairment of QoL is associated with a decline of the physical condition only but not with other factors.
多巴反应性肌张力障碍（DRD）是一种青年起病的神经代谢疾病，常表现为帕金森病和肌张力障碍的组合。其病理生理学包括多巴胺能和 5-羟色胺能神经递质传递的损伤。未经控制的报告表明，神经精神异常和睡眠障碍的频率增加。
在 23 名 GCH1 基因突变阳性的 DRD 患者和 26 名健康对照者中，评估了非运动特征及其对生活质量（QoL）的影响。6 名患者接受了多导睡眠图（PSG）检查。
DRD 患者的抑郁和焦虑症状并不比对照组更常见。各组的平均睡眠质量相似。自我报告的平均入睡时间（27.5 分钟 vs. 27.1 分钟）和总睡眠时间（6.5 小时 vs. 6.6 小时）也是如此。在 PSG 检查中，4 名患者的自发性觉醒次数增加。与身体健康相比，QoL 受损。睡眠障碍和抑郁症状，但不是焦虑症状，与较低的 QoL 相关。
目前的结果并不证实 DRD 中非运动症状频率增加的临床印象和生物学假设。QoL 的损害仅与身体状况的下降有关，而与其他因素无关。
