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本文引用的文献

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Caffeine and the Dyskinesia Related to Mutations in the ADCY5 Gene.咖啡因与ADCY5基因突变相关的运动障碍
Ann Intern Med. 2019 Sep 17;171(6):439. doi: 10.7326/L19-0038. Epub 2019 Jun 11.
2
Depression and psychosis in ADCY5-related dyskinesia-part of the phenotypic spectrum?ADCY5相关运动障碍中的抑郁和精神病——表型谱的一部分?
J Clin Neurosci. 2018 Nov;57:167-168. doi: 10.1016/j.jocn.2018.08.049. Epub 2018 Aug 30.
3
The expanding spectrum of paroxysmal movement disorders: update from clinical features to therapeutics.阵发性运动障碍谱的不断扩大:从临床特征到治疗的最新进展。
Curr Opin Neurol. 2018 Aug;31(4):491-497. doi: 10.1097/WCO.0000000000000576.
4
Oculomotor apraxia and disrupted sleep with nocturnal ballistic bouts in ADCY5-related disease.ADCY5 相关疾病的动眼运动性失用和夜间球击样动作伴发的睡眠紊乱。
Parkinsonism Relat Disord. 2018 Sep;54:103-106. doi: 10.1016/j.parkreldis.2018.04.011. Epub 2018 Apr 10.
5
Expanding the phenotype toward spastic paraparesis: A mutation in the M2 domain.将表型扩展至痉挛性截瘫:M2结构域中的一个突变
Neurol Genet. 2018 Jan 24;4(1):e214. doi: 10.1212/NXG.0000000000000214. eCollection 2018 Feb.
6
Striatal adenosine A receptor neurons control active-period sleep via parvalbumin neurons in external globus pallidus.纹状体腺苷 A 受体神经元通过苍白球外侧部的 parvalbumin 神经元控制活跃期睡眠。
Elife. 2017 Oct 12;6:e29055. doi: 10.7554/eLife.29055.
7
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.与腺苷酸环化酶5相关的运动障碍:一组儿科患者的发病率、病程及表型变异性
Parkinsonism Relat Disord. 2017 Aug;41:37-43. doi: 10.1016/j.parkreldis.2017.05.004. Epub 2017 May 10.
8
ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.表现为家族性肌阵挛性肌张力障碍的腺苷酸环化酶5相关运动障碍
Neurogenetics. 2017 Apr;18(2):111-117. doi: 10.1007/s10048-017-0510-z. Epub 2017 Feb 22.
9
Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases.
J Pediatr. 2017 Feb;181:306-308.e1. doi: 10.1016/j.jpeds.2016.10.079. Epub 2016 Dec 6.
10
Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.早发性全身性肌张力障碍的临床外显子组测序和大规模重测序随访。
Mov Disord. 2017 Apr;32(4):549-559. doi: 10.1002/mds.26808. Epub 2016 Sep 26.

睡眠相关运动障碍:异常运动导致的长时间觉醒。

Sleep in -Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements.

机构信息

Department of Neurology, Pitié-Salpêtrière Hospital, Paris, France.

Faculty of Medicine of Sorbonne University, Institut du Cerveau et de la Moelle épinière, Paris, France.

出版信息

J Clin Sleep Med. 2019 Jul 15;15(7):1021-1029. doi: 10.5664/jcsm.7886.

DOI:10.5664/jcsm.7886
PMID:31383240
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6622513/
Abstract

STUDY OBJECTIVES

mutations cause early-onset hyperkinetic movement disorders comprising diurnal and nocturnal paroxysmal dyskinesia, and patient-reported sleep fragmentation. We aimed to characterize all movements occurring during sleep and in the transition from sleep to awakening, to ascertain if there is a primary sleep disorder, or if the sleep disturbance is rather a consequence of the dyskinesia.

METHODS

Using video polysomnography, we evaluated the nocturnal motor events and abnormal movements in 7 patients with -related dyskinesia and compared their sleep measures with those of 14 age- and sex-matched healthy controls.

RESULTS

We observed an increased occurrence of abnormal movements during wake periods compared to sleep in patients with -related dyskinesia. While asleep, abnormal movements occurred more frequently during stage N2 and REM sleep, in contrast with stage N3 sleep. Abnormal movements were also more frequent during morning awakenings compared to wake periods before falling asleep. The pattern of the nocturnal abnormal movements mirrored those observed during waking hours. Compared to controls, patients with -related dyskinesia had lower sleep efficiencies due to prolonged awakenings secondary to the abnormal movements, but no other differences in sleep measures. Notably, sleep onset latency was short and devoid of violent abnormal movements.

CONCLUSIONS

In this series of patients with -related dyskinesia, nocturnal paroxysmal dyskinesia were not associated with drowsiness or delayed sleep onset, but emerged during nighttime awakenings with subsequent delayed sleep, whereas sleep architecture was normal.

摘要

研究目的

突变导致早发性多动运动障碍,包括日间和夜间阵发性运动障碍,以及患者报告的睡眠碎片化。我们旨在描述睡眠期间和从睡眠到觉醒过渡期间发生的所有运动,以确定是否存在原发性睡眠障碍,或者睡眠障碍是否是运动障碍的结果。

方法

我们使用视频多导睡眠图评估了 7 例与相关的运动障碍患者的夜间运动事件和异常运动,并将他们的睡眠测量值与 14 名年龄和性别匹配的健康对照者进行了比较。

结果

与睡眠相比,我们观察到与相关的运动障碍患者在清醒期间异常运动的发生频率增加。在睡眠期间,异常运动在 N2 和 REM 睡眠期间比在 N3 睡眠期间更频繁地发生。与入睡前的清醒期相比,异常运动在早晨觉醒期间也更为频繁。夜间异常运动的模式与清醒期间观察到的模式相似。与对照组相比,与相关的运动障碍患者的睡眠效率较低,原因是异常运动导致觉醒时间延长,但睡眠测量值没有其他差异。值得注意的是,睡眠潜伏期短,且无剧烈的异常运动。

结论

在这一系列与相关的运动障碍患者中,夜间阵发性运动障碍与嗜睡或入睡延迟无关,但在夜间觉醒后出现,随后出现睡眠延迟,而睡眠结构正常。