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Volume 15 No. 07
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Accepted Papers

Scientific Investigations

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

Aurélie Méneret, MD, PhD1,2; Emmanuel Roze, MD, PhD1,2; Jean-Baptiste Maranci, MD3; Pauline Dodet, MD3; Diane Doummar, MD4; Florence Riant, PharmD5,6; Christine Tranchant, MD, PhD7,8,9; Valérie Fraix, MD, PhD10; Mathieu Anheim, MD, PhD7,8,9; Asya Ekmen2; Eavan McGovern, MD, PhD1; Marie Vidailhet, MD1,2; Isabelle Arnulf, MD, PhD2,3; Smaranda Leu-Semenescu, MD3
1Department of Neurology, Pitié-Salpêtrière Hospital, Paris, France; 2Faculty of Medicine of Sorbonne University, Institut du Cerveau et de la Moelle épinière, Paris, France; 3Sleep Disorders (Department “R3S”), Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France; 4Department of Pediatric Neurology, Hôpital Armand-Trousseau, Paris, France; 5Groupe hospitalier Lariboisière-Fernand Widal, Laboratoire de Génétique, Paris, France; 6Université Paris, Paris, France; 7Department of Neurology, Hautepierre Hospital, University Hospitals of Strasbourg, Strasbourg, France; 8Institute of Genetics and Molecular and Cellular Biology, University of Strasbourg, Illkirch, France; 9Strasbourg Federation of Translational Medicine, University of Strasbourg, Strasbourg, France; 10Service de Neurologie, Centre Hospitalier Universitaire Grenoble Alpes, Grenoble Institut des Neurosciences, Université Grenoble Alpes, Grenoble, France

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.


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.


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.


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.


Méneret A, Roze E, Maranci JB, Dodet P, Doummar D, Riant F, Tranchant C, Fraix V, Anheim M, Ekmen A, McGovern E, Vidailhet M, Arnulf I, Leu-Semenescu S. Sleep in ADCY5-related dyskinesia: prolonged awakenings caused by abnormal movements. J Clin Sleep Med. 2019;15(7):1021–1029.

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