ArticleSleep2014
HLA DQB1*06:02 negative narcolepsy with hypocretin/orexin deficiency.
Article in Sleep, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 75 citations in OpenAlex.
- A Comprehensive Review of Current and Emerging Treatments for Narcolepsy Type 1.Journal of clinical medicine · 2025Review
- Alteration of Metabolic Profile in Patients with Narcolepsy Type 1.Metabolites · 2025Article
- Prevalence and Course of Idiopathic Hypersomnia in the Wisconsin Sleep Cohort Study.Neurology · 2024Article
- The immunopathogenesis of narcolepsy type 1.Nature reviews. Immunology · 2024Review
- A series of 7 cases of patients with narcolepsy with hypocretin deficiency without the HLA DQB1*06:02 allele.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2023Article
- LC-MS/MS-Based Proteomics Approach for the Identification of Candidate Serum Biomarkers in Patients with Narcolepsy Type 1.Biomolecules · 2023Article
- Article
- Reviewing the Clinical Implications of Treating Narcolepsy as an Autoimmune Disorder.Nature and science of sleep · 2021Review
- Central Disorders of Hypersomnolence.Continuum (Minneapolis, Minn.) · 2020Review
- Association between genetic risk scores and risk of narcolepsy: a case-control study.Annals of translational medicine · 2020Article
- Analyzing Functional Pathways and constructing gene-gene network for Narcolepsy based on candidate genes.International journal of medical sciences · 2020Article
- Meeting report narcolepsy and pandemic influenza vaccination: What we know and what we need to know before the next pandemic? A report from the 2nd IABS meeting.Biologicals : journal of the International Association of Biological Standardization · 2019Article
- HLA-DQB1*06:02 allele frequency and clinic-polysomnographic features in Saudi Arabian patients with narcolepsy.Sleep & breathing = Schlaf & Atmung · 2019Article
- CD8Nature communications · 2019Article
- Pandemrix-induced narcolepsy is associated with genes related to immunity and neuronal survival.EBioMedicine · 2019Article
- Autoimmunity to hypocretin and molecular mimicry to flu in type 1 narcolepsy.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- Neural network analysis of sleep stages enables efficient diagnosis of narcolepsy.Nature communications · 2018Article
- Prostaglandin D2 Receptor DP1 Antibodies Predict Vaccine-induced and Spontaneous Narcolepsy Type 1: Large-scale Study of Antibody Profiling.EBioMedicine · 2018Article
- Narcolepsy Type 1 as an Autoimmune Disorder: Evidence, and Implications for Pharmacological Treatment.CNS drugs · 2017Review
- Absence of anti-hypocretin receptor 2 autoantibodies in post pandemrix narcolepsy cases.PloS one · 2017Article
Corrections and comments
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Authors and funding
17 authors at 9 institutions in 7 countries.
Funding
Abstract
STUDY
objectivesTo identify rare allelic variants and HLA alleles in narcolepsy patients with hypocretin (orexin, HCRT) deficiency but lacking DQB1*06:02. SETTINGS: China (Peking University People's Hospital), Czech Republic (Charles University), Denmark (Golstrup Hospital), Italy (University of Bologna), Korea (Catholic University), and USA (Stanford University).
designCSF hypocretin-1, DQB1*06:02, clinical and polysomnographic data were collected in narcolepsy patients (552 with and 144 without cataplexy) from 6 sites. Numbers of cases with and without DQB1*06:02 and low CSF hypocretin-1 were compiled. HLA class I (A, B, C), class II (DRBs, DQA1, DQB1, DPA1, and DPB1), and whole exome sequencing were conducted in 9 DQB1*06:02 negative cases with low CSF hypocretin-1. Sanger sequencing of selected exons in DNMT1, HCRT, and MOG was performed to exclude mutations in known narcolepsy-associated genes. MEASUREMENTS AND
resultsClassic narcolepsy markers DQB1*06:02 and low CSF hypocretin-1 were found in 87.4% of cases with cataplexy, and in 20.0% without cataplexy. Nine cases (all with cataplexy) were DQB1*06:02 negative with low CSF hypocretin-1, constituting 1.7% [0.8%-3.4%] of all cases with cataplexy and 1.8% [0.8%-3.4%] of cases with low CSF hypocretin independent of cataplexy across sites. Five HLA negative subjects had severe cataplexy, often occurring without clear triggers. Subjects had diverse ethnic backgrounds and HLA alleles at all loci, suggesting no single secondary HLA association. The rare subtype DPB1*0901, and homologous DPB1*10:01 subtype, were present in 5 subjects, suggesting a secondary association with HLA-DP. Preprohypocretin sequencing revealed no mutations beyond one previously reported in a very early onset case. No new MOG or DNMT1 mutations were found, nor were suspicious or private variants in novel genes identified through exome sequencing.
conclusionsHypocretin, MOG, or DNMT1 mutations are exceptional findings in DQB1*06:02 negative cases with hypocretin deficiency. A secondary HLA-DP association may be present in these cases. These represent particularly difficult diagnostic challenges.
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