Impaired glycinergic transmission in hyperekplexia: a model of parasomnia overlap disorder

Regis Lopez (1, 2) , Francois Rivier (3, 1) , Jamel Chelly (4) , Yves Dauvilliers (1, 2)

1 CHRU Montpellier - Centre Hospitalier Régional Universitaire [Montpellier]
2 PSNREC - Neuropsychiatrie : recherche épidémiologique et clinique
3 PhyMedExp - Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046]
4 IGBMC - Institut de Génétique et de Biologie Moléculaire et Cellulaire

We report sleep phenotypes and polysomnographic findings in two siblings with a novel homozygous variant of the GLRA1 gene causing hereditary hyperekplexia (HH). Both sisters had startles during wakefulness and sleep, sleep terrors, and one had symptoms of REM sleep behavior disorder (RBD). Frequent startles were found in NREM sleep associated with NREM parasomnias in deep sleep. In REM sleep, both had motor behaviors and increased phasic/tonic muscle activities confirming RBD. Clonazepam improved startles, motor behaviors, and muscle activities in REM sleep. Impaired glycinergic transmission in human HH could be involved in the pathophysiology of RBD and NREM parasomnias.

Domaines: Neurosciences [q-bio.NC]; Pharmacologie

Regis Lopez, Francois Rivier, Jamel Chelly, Yves Dauvilliers. Impaired glycinergic transmission in hyperekplexia: a model of parasomnia overlap disorder. Annals of Clinical and Translational Neurology, 2019, 6 (9), pp.1900-1904. ⟨10.1002/acn3.50866⟩. ⟨hal-02265333⟩