Impaired glycinergic transmission in hyperekplexia: a model of parasomnia overlap disorder.
Journal
Annals of clinical and translational neurology
ISSN: 2328-9503
Titre abrégé: Ann Clin Transl Neurol
Pays: United States
ID NLM: 101623278
Informations de publication
Date de publication:
09 2019
09 2019
Historique:
received:
29
06
2019
revised:
18
07
2019
accepted:
20
07
2019
pubmed:
9
8
2019
medline:
19
5
2020
entrez:
9
8
2019
Statut:
ppublish
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.
Identifiants
pubmed: 31392847
doi: 10.1002/acn3.50866
pmc: PMC6764621
doi:
Substances chimiques
GLRA1 protein, human
0
Receptors, Glycine
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1900-1904Informations de copyright
© 2019 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association.
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