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

Sleep in ADCY5-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements

Aurélie Méneret  1   2 , Emmanuel Roze  1   2 , Jean-Baptiste Maranci  3 , Pauline Dodet  3 , Diane Doummar  4 , Florence Riant  5   6 , Christine Tranchant  7   8   9 , Valérie Fraix  10 , Mathieu Anheim  7   8   9 , Asya Ekmen  2 , Eavan McGovern  1 , Marie Vidailhet  1   2 , Isabelle Arnulf  2   3 , Smaranda Leu-Semenescu  3
Affiliations

Sleep in ADCY5-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements

Aurélie Méneret et al. J Clin Sleep Med. .

Abstract

Study objectives: ADCY5 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 ADCY5-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 ADCY5-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 ADCY5-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 ADCY5-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.

Keywords: ADCY5; chorea; dyskinesia; dystonia; sleep.

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Figures

Figure 1
Figure 1. Hypnogram.
Difference in sleep efficacy between a patient (A) and a matched 38-year-old healthy control (B). Arrows show numerous awakenings (the sum is A2) due to abnormal movements and responsible for poor sleep efficacy in the patient (45%) compared to the control (97%) who presented only a few expected awakenings, devoid of abnormal movements. A1 = time awake before falling asleep (including 30 minutes before light extinction), A2 = total time awake after falling asleep and before waking in the morning (WASO), A3 = final awakening (time including 30 minutes of video analysis or more if presence of abnormal movements), N1 = stage N1 sleep, N2 = stage N2 sleep, N3 = stage N3 sleep, W = wake, WASO = wake after sleep onset.
Figure 2
Figure 2. Distribution of sleep and wake epochs containing movements.
Number and percentages of sleep and wake epochs containing movements type 1 (normal movements), type 2 (abnormal but not violent movements) and type 3 (abnormal prolonged and/or violent movements).
Figure 3
Figure 3. Distribution of wake epochs containing movements.
Number and percentages of the different wake epochs (A1, A2 and A3) containing movements type 1 (normal movements), type 2 (abnormal but not violent movements) and type 3 (abnormal prolonged and/or violent movements).
Figure 4
Figure 4. Distribution of sleep stage epochs containing movements.
Number and percentage of sleep stages epochs N1, N2, N3 and REM sleep containing movements type 1 (normal movements), type 2 (abnormal but not violent movements) and type 3 (abnormal prolonged and/or violent movements).
See this image and copyright information in PMC

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