Monozygotic twins concordant for narcolepsy-cataplexy without any detectable abnormality in the hypocretin (orexin) pathway.
Détails
ID Serval
serval:BIB_A96B1DD542A1
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Monozygotic twins concordant for narcolepsy-cataplexy without any detectable abnormality in the hypocretin (orexin) pathway.
Périodique
Lancet
ISSN
1474-547X[electronic]
Statut éditorial
Publié
Date de publication
2004
Volume
363
Numéro
9416
Pages
1199-1200
Langue
anglais
Résumé
Narcolepsy with cataplexy is thought to be a hypocretin ligand or hypocretin receptor deficiency syndrome caused by genetic and environmental factors. We looked for an abnormality of the hypocretin pathway in HLA-DQB1*0602-positive monozygotic twins who were concordant for narcolepsy-cataplexy. They had normal cerebrospinal fluid concentrations of hypocretin-1, and we found no mutation in the prepro-hypocretin gene or either hypocretin receptor gene. Our finding points to the existence of presumably genetic forms of narcolepsy with cataplexy without any demonstrable defect in the hypocretin pathway.
Mots-clé
Adult, Carrier Proteins, Diseases in Twins, Female, HLA-DQ Antigens, Humans, Intracellular Signaling Peptides and Proteins, Membrane Glycoproteins, Narcolepsy, Neuropeptides, Polysomnography, Twins, Monozygotic
Pubmed
Web of science
Création de la notice
24/01/2008 16:55
Dernière modification de la notice
20/08/2019 16:13