Impaired glycinergic transmission in hyperekplexia: a model of parasomnia overlap disorder.
Fiche publication
Date publication
août 2019
Journal
Annals of clinical and translational neurology
Auteurs
Membres identifiés du Cancéropôle Est :
Pr CHELLY Jamel
Tous les auteurs :
Lopez R, Rivier F, Chelly J, Dauvilliers Y
Lien Pubmed
Résumé
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.
Référence
Ann Clin Transl Neurol. 2019 Aug 7;: