Open AccessImpaired glycinergic transmission in hyperekplexia: a model of parasomnia overlap disorder
Author(s) -
Lopez Régis,
Rivier François,
Chelly Jamel,
Dauvilliers Yves
Publication year - 2019
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.50866
Subject(s) - non rapid eye movement sleep , medicine , clonazepam , parasomnia , sleepwalking , neuroscience , polysomnography , rem sleep behavior disorder , sleep (system call) , slow wave sleep , sleep disorder , insomnia , anesthesia , psychology , electroencephalography , psychiatry , operating system , computer science
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.