Treatment of slow-channel congenital myasthenic syndrome in a Thai family with fluoxetine.
Fluoxetine
Slow-channel congenital myasthenic syndrome
Thai
Treatment
Journal
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
ISSN: 1532-2653
Titre abrégé: J Clin Neurosci
Pays: Scotland
ID NLM: 9433352
Informations de publication
Date de publication:
Feb 2022
Feb 2022
Historique:
received:
06
07
2021
revised:
11
11
2021
accepted:
12
12
2021
pubmed:
10
1
2022
medline:
8
2
2022
entrez:
9
1
2022
Statut:
ppublish
Résumé
The slow-channel congenital myasthenic syndrome is an autosomal dominant neuromuscular disorder caused by mutations in different subunits of the acetylcholine receptor. Fluoxetine, a common antidepressant and long-lived open-channel blocker of acetylcholine receptor, has been reported to be beneficial in the slow-channel congenital myasthenic syndrome. Here we report a prospective open label study of fluoxetine treatment in some affected members of a Thai family with slow-channel congenital myasthenic syndrome caused by a novel p.Gly153Ala (c.518G > C) mutation in CHRNA1 in the AChR α subunit. These patients showed significant clinical improvement following fluoxetine treatment but their respiratory function responded variably.
Identifiants
pubmed: 34999496
pii: S0967-5868(21)00610-X
doi: 10.1016/j.jocn.2021.12.016
pii:
doi:
Substances chimiques
Receptors, Cholinergic
0
Fluoxetine
01K63SUP8D
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
85-89Informations de copyright
Copyright © 2022 Elsevier Ltd. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.