HLA DQB1∗06:02 negative narcolepsy with hypocretin/orexin deficiency

Sleep

Volumn 37, Issue 10, 2014, Pages 1601-1608

  Han, Fang ^a   Lin, Ling ^b   Schormair, Barbara ^c,d   Pizza, Fabio ^e   Plazzi, Giuseppe ^e   Ollila, Hanna M ^b   Nevsimalova, Sona ^f   Jennum, Poul ^g   Knudsen, Stine ^g,h   Winkelmann, Juliane ^b,c   Coquillard, Cristin ^b   Babrzadeh, Farbod ^b   Strom, Tim M ^c,d   Wang, Chunlin ^b   Mindrinos, Michael ^b   Vina, Marcelo Fernandez ^b   Mignot, Emmanuel ^b  

^a PEKING UNIVERSITY PEOPLE S HOSPITAL   (China)

^b STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^d INSTITUTE OF EPIDEMIOLOGY   (Germany)

^e UNIVERSITY OF BOLOGNA   (Italy)

^f CHARLES UNIVERSITY   (Czech Republic)

^g UNIVERSITY OF COPENHAGEN   (Denmark)

^h ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

Author keywords

Cataplexy; DNMT1; Exome sequencing; HLA; Hypocretin; MHC; MOG; Narcolepsy; Orexin

Indexed keywords

HLA DQB1 ANTIGEN; OREXIN A; DMAP1 PROTEIN, HUMAN; HCRT PROTEIN, HUMAN; HLA DQ ANTIGEN; HLA-DQB1 ANTIGEN; MOG PROTEIN, HUMAN; MYELIN OLIGODENDROCYTE GLYCOPROTEIN; NEUROPEPTIDE; OREXIN; REPRESSOR PROTEIN; SIGNAL PEPTIDE;

ALLELE; ARTICLE; CATAPLEXY; CEREBROSPINAL FLUID; CONTROLLED STUDY; DISEASE SEVERITY; EXOME; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; MAJOR CLINICAL STUDY; NARCOLEPSY; PROTEIN DEFICIENCY; SEQUENCE ANALYSIS; CLINICAL TRIAL; COHORT ANALYSIS; DEFICIENCY; DNA MUTATIONAL ANALYSIS; GENETICS; INTERNATIONAL COOPERATION; MULTICENTER STUDY; MUTATION;

ALLELES; CATAPLEXY; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; HLA-DQ BETA-CHAINS; HUMANS; INTERNATIONALITY; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MUTATION; MYELIN-OLIGODENDROCYTE GLYCOPROTEIN; NARCOLEPSY; NEUROPEPTIDES; OREXINS; REPRESSOR PROTEINS;

EID: 84901427814     PISSN: 01618105     EISSN: 15509109     Source Type: Journal    
DOI: 10.5665/sleep.4066     Document Type: Article

References (48)

1. Nishino S, Ripley B, Overeem S, Lammers GJ, Mignot E. Hypocretin (orexin) deficiency in human narcolepsy. Lancet 2000;355:39-40.
2. Mignot E, Lammers GJ, Ripley B, et al. The role of cerebrospinal fluid hypocretin measurement in the diagnosis of narcolepsy and other hypersomnias. Arch Neurol 2002;59:1553-62.
3. Peyron C, Faraco J, Rogers W, et al. A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains. Nat Med 2000;6:991-7.
4. Mahlios J, De la Herrán-Arita AK, Mignot E. The autoimmune basis of narcolepsy. Curr Opin Neurobiol 2013;23:767-73.
5. Han F, Lin L, Warby SC, et al. Narcolepsy onset is seasonal and increased following the 2009 H1N1 pandemic in China. Ann Neurol 2011;70:410-7.
6. Partinen M, Saarenpaa-Heikkila O, Ilveskoski I, et al. Increased incidence and clinical picture of childhood narcolepsy following the 2009 H1N1 pandemic vaccination campaign in Finland. PLoS One 2012;7:e33723.
7. Han F, Faraco J, Dong XS, et al. Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic. PLoS Genet 2013;9:e1003880-e.
8. Pelin Z, Guilleminault C, Risch N, Grumet FC, Mignot E. HLADQB1∗ 0602 homozygosity increases relative risk for narcolepsy but not disease severity in two ethnic groups. US Modafinil in Narcolepsy Multicenter Study Group. Tissue Antigens 1998;51:96-100.
9. Mignot E, Lin L, Rogers W, et al. Complex HLA-DR and -DQ interactions confer risk of narcolepsy-cataplexy in three ethnic groups. Am J Hum Genet 2001;68:686-99.
10. Han F, Lin L, Li J, et al. HLA-DQ association and allele competition in Chinese narcolepsy. Tissue Antigens 2012;80:328-35.
11. Alaez C, Lin L, Flores AH, et al. Association of narcolepsy-cataplexy with HLA-DRB1 and DQB1 in Mexican patients: a relationship between HLA and gender is suggested. BMC Med Genet 2008;9:79.
12. Roh EY, Park MH, Park H, et al. Association of HLA-DR and -DQ genes with narcolepsy in Koreans: comparison with two control groups, randomly selected subjects and DRB1∗1501-DQB1∗0602 - positive subjects. Hum Immunol 2006;67:749-55.
13. Hong SC, Lin L, Lo B, et al. DQB1∗0301 and DQB1∗0601 modulate narcolepsy susceptibility in Koreans. Hum Immunol 2007;68:59-68.
14. Hohjoh H, Terada N, Honda Y, Juji T, Tokunaga K. Negative association of the HLA-DRB1∗1502-DQB1∗0601 haplotype with human narcolepsy. Immunogenetics 2001;52:299-301.
15. Tafti M, Hor H, Dauvilliers Y, et al. DQB1 locus alone explains most of the risk and protection in narcolepsy with cataplexy in Europe. Sleep 2014;37:19-25.
16. Weiner Lachmi K, Lin L, Kornum BR, et al. DQB1∗06:02 allele-specific expression varies by allelic dosage, not narcolepsy status. Hum Immunol 2012;73:405-10.
17. Krahn LE, Pankratz VS, Oliver L, Boeve BF, Silber MH. Hypocretin (orexin) levels in cerebrospinal fluid of patients with narcolepsy: relationship to cataplexy and HLA DQB1∗0602 status. Sleep 2002;25:733-6.
18. Dauvilliers Y, Baumann CR, Carlander B, et al. CSF hypocretin-1 levels in narcolepsy, Kleine-Levin syndrome, and other hypersomnias and neurological conditions. J Neurol Neurosurg Psychiatry 2003;74:1667-73.
19. Hong SC, Lin L, Jeong JH, et al. A study of the diagnostic utility of HLA typing, CSF hypocretin-1 measurements, and MSLT testing for the diagnosis of narcolepsy in 163 Korean patients with unexplained excessive daytime sleepiness. Sleep 2006;29:1429-38.
20. Heier MS, Evsiukova T, Vilming S, Gjerstad MD, Schrader H, Gautvik K. CSF hypocretin-1 levels and clinical profiles in narcolepsy and idiopathic CNS hypersomnia in Norway. Sleep 2007;30:969-73.
21. Martinez-Rodriguez JE, Sabater L, Graus F, Iranzo A, Santamaria J. Evaluation of hypothalamic-specific autoimmunity in patients with narcolepsy. Sleep 2007;30:27-8.
22. Knudsen S, Jennum PJ, Alving J, Sheikh SP, Gammeltoft S. Validation of the ICSD-2 criteria for CSF hypocretin-1 measurements in the diagnosis of narcolepsy in the Danish population. Sleep 2010;33:169-76.
23. Billiard M, Bassetti C, Dauvilliers Y, et al. EFNS guidelines on management of narcolepsy. Eur J Neurol 2006;13:1035-48.
24. Bourgin P, Zeitzer JM, Mignot E. CSF hypocretin-1 assessment in sleep and neurological disorders. Lancet Neurol 2008;7:649-62.
25. Singh M, Drake CL, Roth T. The prevalence of multiple sleep-onset REM periods in a population-based sample. Sleep 2006;29:890-5.
26. Mignot E, Lin L, Finn L, et al. Correlates of sleep-onset REM periods during the Multiple Sleep Latency Test in community adults. Brain 2006;129:1609-23.
27. Aldrich MS, Chervin RD, Malow BA. Value of the multiple sleep latency test (MSLT) for the diagnosis of narcolepsy. Sleep 1997;20:620-9.
28. Trotti LM, Staab BA, Rye DB. Test-retest reliability of the multiple sleep latency test in narcolepsy without cataplexy and idiopathic hypersomnia. J Clin Sleep Med 2013;9:789-95.
29. Nevsimalova S, Roth B, Zouhar A, Zemanova H. The occurrence of narcolepsy-cataplexy and periodic hypersomnia in early childhood. In: Koella WP, Obal F, Schulz H, Visser P, eds. Sleep '86. New York: Gustav Fisher Verlag, 1988:399-401.
30. Dong XS, Ma SF, Cao CW, et al. Hypocretin (orexin) neuropeptide precursor gene, HCRT, polymorphisms in early-onset narcolepsy with cataplexy. Sleep Med 2013;14:482-7.
31. Olafsdottir BR, Rye DB, Scammell TE, Matheson JK, Stefansson K, Gulcher JR. Polymorphisms in hypocretin/orexin pathway genes and narcolepsy. Neurology 2001;57:1896-9.
32. Faraco J, Mignot E. Genetics of narcolepsy. In: Pack AI, ed. Genetics of sleep and its disorders. Philadelphia, PA: Saunders Elsevier, 2011:217-28.
33. Hor H, Bartesaghi L, Kutalik Z, et al. A missense mutation in myelin oligodendrocyte glycoprotein as a cause of familial narcolepsy with cataplexy. Am J Hum Genet 2011;89:474-9.
34. Eguibar JR, Cortes Mdel C. [The myelin mutant taiep as a model for abscence crisis]. Gac Med Mex 2010;146:11-8.
35. Prieto GJ, Urba-Holmgren R, Holmgren B. Sleep and EEG disturbances in a rat neurological mutant (taiep) with immobility episodes: a model of narcolepsy-cataplexy. Electroencephalogr Clin Neurophysiol 1991;79:141-7.
36. Eguibar JR, Cortes Mdel C, Lara-Lozano M. Presynaptic dopaminergic agonists increased gripping-generated immobility episodes in the myelinmutant taiep rat. Neurosci Lett 2010;483:189-92.
37. Winkelmann J, Lin L, Schormair B, et al. Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy. Hum Mol Genet 2012;21:2205-10.
38. Dalal MA, Schuld A, Pollmacher T. Undetectable CSF level of orexin A (hypocretin-1) in a HLA-DR2 negative patient with narcolepsy-cataplexy. J Sleep Res 2002;11:273.
39. Guilleminault C, Grumet C. HLA-DR2 and narcolepsy: not all narcolepticcataplectic patients are DR2. Hum Immunol 1986;17:1-2.
40. Knudsen S, Biering-Sorensen B, Kornum BR, et al. Early IVIg treatment has no effect on post-H1N1 narcolepsy phenotype or hypocretin deficiency. Neurology 2012;79:102-3.
41. Kanbayashi T, Shimohata T, Nakashima I, et al. Symptomatic narcolepsy in patients with neuromyelitis optica and multiple sclerosis: new neurochemical and immunological implications. Arch Neurol 2009;66:1563-6.
42. Wang C, Krishnakumar S, Wilhelmy J, et al. High-throughput, highfidelity HLA genotyping with deep sequencing. Proc Natl Acad Sci U S A 2012;109:8676-81.
43. Pedroso JL, Povoas Barsottini OG, Lin L, Melberg A, Oliveira AS, Mignot E. A novel de novo exon 21 DNMT1 mutation causes cerebellar ataxia, deafness, and narcolepsy in a Brazilian patient. Sleep 2013;36:1257-9.
44. Diaz-Pena R, Lopez-Vazquez A, Lopez-Larrea C. Old and new HLA associations with ankylosing spondylitis. Tissue Antigens 2012;80:205-13.
45. van Heel DA, Hunt K, Greco L, Wijmenga C. Genetics in coeliac disease. Best Pract Res Clin Gastroenterol 2005;19:323-39.
46. Kooy-Winkelaar Y, van Lummel M, Moustakas AK, et al. Gluten-specific T cells cross-react between HLA-DQ8 and the HLA-DQ2alpha/DQ8beta transdimer. J Immunol 2011;187:5123-9.
47. Kwok WW, Nepom GT. Structural and functional constraints on HLA class II dimers implicated in susceptibility to insulin dependent diabetes mellitus. Baillieres Clin Endocrinol Metab 1991;5:375-93.
48. Kwok WW, Kovats S, Thurtle P, Nepom GT. HLA-DQ allelic polymorphisms constrain patterns of class II heterodimer formation. J Immunol 1993;150:2263-72.