A series of 7 cases of patients with narcolepsy with hypocretin deficiency without the HLA DQB1*06:02 allele.
HLA
cataplexy
hypocretin
narcolepsy
orexin
Journal
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine
ISSN: 1550-9397
Titre abrégé: J Clin Sleep Med
Pays: United States
ID NLM: 101231977
Informations de publication
Date de publication:
01 Dec 2023
01 Dec 2023
Historique:
pmc-release:
01
12
2024
medline:
4
12
2023
pubmed:
4
8
2023
entrez:
4
8
2023
Statut:
ppublish
Résumé
We report data collected from 2 reference European sleep centers on a series of patients with narcolepsy with hypocretin-1 deficiency and absence of the human leukocyte antigens (HLA) DQB1*06:02 allele. Clinical data, HLA DQ markers, and cerebrospinal fluid assessments were collected retrospectively from Caucasian patients with a diagnosis of narcolepsy type 1 with cerebrospinal fluid hypocretin-1 deficiency (< 110 pg/ml) and absence of the HLA DQB1*06:02 allele, with follow-up with at least 1 visit within the last 4 years, consecutively admitted to 2 European sleep centers (Lugano, Switzerland and Montpellier, France). Seven patients (3 of 29 patients in Lugano and 4 of 328 in Montpellier) were diagnosed with narcolepsy with hypocretin-1 deficiency and absence of HLA DQB1*06:02 (ie, 2% of patients with narcolepsy type 1). Regarding the HLA-DQB1 genotyping, 4 cases were positive for HLA DQB1*03:01, 1 for DQB1*03:02, and 3 for DQB1*02:01. Three patients had atypical cataplexy and 1 had no cataplexy. Only 2 patients had both a mean sleep latency of less than 8 minutes and more than 2 sleep onset rapid eye movement periods on the Multiple Sleep Latency Test, indicative of a less severe condition. Although rare, this series of 7 cases confirms that hypocretin-deficient narcolepsy should not be excluded in the absence of HLA DQB1*06:02, especially if patients are carriers of other high-risk HLA-DQB1 alleles (DQB1*03:01, *03:02, *02:01). These data support the hypothesis that narcolepsy type 1 is a wider disease spectrum linked to the loss of hypocretin peptide. Miano S, Barateau L, De Pieri M, et al. A series of 7 cases of patients with narcolepsy with hypocretin deficiency without the HLA DQB1*06:02 allele.
Identifiants
pubmed: 37539640
pii: jcsm.10748
doi: 10.5664/jcsm.10748
pmc: PMC10692923
doi:
Substances chimiques
Orexins
0
HLA-DQB1 antigen
0
Neuropeptides
0
HLA-DQ beta-Chains
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2053-2057Informations de copyright
© 2023 American Academy of Sleep Medicine.
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