Narcolepsy with hypocretin/orexin deficiency, infections and autoimmunity of the brain

Current Opinion in Neurobiology

Volumn 21, Issue 6, 2011, Pages 897-903

  Kornum, Birgitte Rahbek ^a   Faraco, Juliette ^a   Mignot, Emmanuel ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOANTIBODY; HLA ANTIGEN CLASS 1; HLA ANTIGEN CLASS 2; HLA DQA1 ANTIGEN; HLA DQB1 ANTIGEN; INFLUENZA VACCINE; OREXIN; SUPERANTIGEN; T LYMPHOCYTE RECEPTOR;

ANTIGEN ANTIBODY REACTION; ANTIGEN PRESENTATION; ANTIGEN SPECIFICITY; AUTOIMMUNE DISEASE; AUTOIMMUNITY; BRAIN INFECTION; BYSTANDER EFFECT; CATAPLEXY; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE PREDISPOSITION; GENETIC POLYMORPHISM; GROUP A STREPTOCOCCAL INFECTION; HUMAN; HYPERSOMNIA; IMMUNOPATHOGENESIS; IMMUNOSURVEILLANCE; INFLUENZA A (H1N1); INFLUENZA VACCINATION; INFLUENZA VIRUS A H1N1; MOLECULAR BIOLOGY; NARCOLEPSY; NERVE CELL; NERVE CELL LESION; NONHUMAN; ONSET AGE; OREXIN DEFICIENCY; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN DEPLETION; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; PROTEIN TARGETING; REM SLEEP; REVIEW; SEASONAL VARIATION; SLEEP WAKING CYCLE; STREPTOCOCCUS PYOGENES; UPPER RESPIRATORY TRACT INFECTION; WINTER;

AUTOIMMUNE DISEASES; BRAIN; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; NARCOLEPSY; NEUROPEPTIDES;

EID: 84855479864     PISSN: 09594388     EISSN: 18736882     Source Type: Journal    
DOI: 10.1016/j.conb.2011.09.003     Document Type: Review

References (72)

1. Lin L., Faraco J., Li R., Kadotani H., Rogers W., Lin X., Qiu X., de Jong P.J., Nishino S., Mignot E. The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene. Cell 1999, 98:365-376.
2. Chemelli R.M., Willie J.T., Sinton C.M., Elmquist J.K., Scammell T., Lee C., Richardson J.A., Williams S.C., Xiong Y., Kisanuki Y., et al. Narcolepsy in orexin knockout mice: molecular genetics of sleep regulation. Cell 1999, 98:437-451.
3. Nishino S., Ripley B., Overeem S., Lammers G.J., Mignot E. Hypocretin (orexin) deficiency in human narcolepsy. The Lancet 2000, 355:39-40.
4. Mignot E., Lammers G.J., Ripley B., Okun M., Nevsimalova S., Overeem S., Vankova J., Black J., Harsh J., Bassetti C., et al. The role of cerebrospinal fluid hypocretin measurement in the diagnosis of narcolepsy and other hypersomnias. Archives of Neurology 2002, 59:1553-1562.
5. Peyron C., Faraco J., Rogers W., Ripley B., Overeem S., Charnay Y., Nevsimalova S., Aldrich M., Reynolds D., Albin R., et al. A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains. Nature Medicine 2000, 6:991-997.
6. Thannickal T.C., Moore R.Y., Nienhuis R., Ramanathan L., Gulyani S., Aldrich M., Cornford M., Siegel J.M. Reduced number of hypocretin neurons in human narcolepsy. Neuron 2000, 27:469-474.
7. Crocker A., España R.A., Papadopoulou M., Saper C.B., Faraco J., Sakurai T., Honda M., Mignot E., Scammell T.E. Concomitant loss of dynorphin, NARP, and orexin in narcolepsy. Neurology 2005, 65:1184-1188.
8. Bonnavion P., de Lecea L. Hypocretins in the control of sleep and wakefulness. Current Neurology and Neuroscience Reports 2010, 10:174-179.
9. Saper C.B., Fuller P.M., Pedersen N.P., Lu J., Scammell T.E. Sleep state switching. Neuron 2010, 68:1023-1042.
10. Bourgin P., Huitrón-Résendiz S., Spier A.D., Fabre V., Morte B., Criado J.R., Sutcliffe J.G., Henriksen S.J., de Lecea L. Hypocretin-1 modulates rapid eye movement sleep through activation of locus coeruleus neurons. The Journal of Neuroscience 2000, 20:7760-7765.
11. Kiyashchenko L.I., Mileykovskiy B.Y., Lai Y.Y., Siegel J.M. Increased and decreased muscle tone with orexin (hypocretin) microinjections in the locus coeruleus and pontine inhibitory area. Journal of Neurophysiology 2001, 85:2008-2016.
12. Carter M.E., Adamantidis A., Ohtsu H., Deisseroth K., de Lecea L. Sleep homeostasis modulates hypocretin-mediated sleep-to-wake transitions. The Journal of Neuroscience 2009, 29:10939-10949.
13. Mochizuki T., Arrigoni E., Marcus J.N., Clark E.L., Yamamoto M., Honer M., Borroni E., Lowell B.B., Elmquist J.K., Scammell T.E. Orexin receptor 2 expression in the posterior hypothalamus rescues sleepiness in narcoleptic mice. PNAS 2011, 108:4471-4476.
14. Ponz A., Khatami R., Poryazova R., Werth E., Boesiger P., Bassetti C.L., Schwartz S. Abnormal activity in reward brain circuits in human narcolepsy with cataplexy. Annals of Neurology 2010, 67:190-200.
15. Cao M., Guilleminault C. Hypocretin and its emerging role as a target for treatment of sleep disorders. Current Neurology and Neuroscience Reports 2011, 11:227-234.
16. Rubtsov A.V., Rubtsova K., Kappler J.W., Marrack P. Genetic and hormonal factors in female-biased autoimmunity. Autoimmunity Reviews 2010, 9:494-498.
17. Sfriso P., Ghirardello A., Botsios C., Tonon M., Zen M., Bassi N., Bassetto F., Doria A. Infections and autoimmunity: the multifaceted relationship. Journal of Leukocyte Biology 2010, 87:385-395.
18. Hor H., Kutalik Z., Dauvilliers Y., Valsesia A., Lammers G.J., Donjacour C.E.H.M., Iranzo A., Santamaria J., Peraita Adrados R., Vicario J.L., et al. Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy. Nature Genetics 2010, 42:786-789.
19. Mignot E., Lin L., Rogers W., Honda Y., Qiu X., Lin X., Okun M., Hohjoh H., Miki T., Hsu S., et al. Complex HLA-DR and -DQ interactions confer risk of narcolepsy-cataplexy in three ethnic groups. American Journal of Human Genetics 2001, 68:686-699.
20. Hallmayer J., Faraco J., Lin L., Hesselson S., Winkelmann J., Kawashima M., Mayer G., Plazzi G., Nevsimalova S., Bourgin P., et al. Narcolepsy is strongly associated with the T-cell receptor alpha locus. Nature Genetics 2009, 41:708-711.
21. Dauvilliers Y., Montplaisir J., Molinari N., Carlander B., Ondze B., Besset A., Billiard M. Age at onset of narcolepsy in two large populations of patients in France and Quebec. Neurology 2001, 57:2029-2033.
22. Mignot E. Genetic and familial aspects of narcolepsy. Neurology 1998, 50:0.
23. Dauvilliers Y., Arnulf I., Mignot E. Narcolepsy with cataplexy. Lancet 2007, 369:499-511.
24. Koepsell T.D., Longstreth W.T., Ton T.G.N. Medical exposures in youth and the frequency of narcolepsy with cataplexy: a population-based case-control study in genetically predisposed people. Journal of Sleep Research 2010, 19:80-86.
25. Aran A., Lin L., Nevsimalova S., Plazzi G., Hong S.C., Weiner K., Zeitzer J., Mignot E. Elevated anti-streptococcal antibodies in patients with recent narcolepsy onset. Sleep 2009, 32:979-983.
26. Lakemedelsverket Occurrence of narcolepsy with cataplexy among children and adolescents in relation to the H1N1 pandemic and Pandemrix vaccinations - results of a case inventory study by the MPA in Sweden during 2009-2010. MPA Report 2011, 1:1-20.
27. Finnish National Institute for Health and Welfare (THL) National Narcolepsy Task Force Interim Report on Narcolepsy. Report 2011.
28. Han F., Lin L., Warby S.C., Faraco J., Li J., Dong S.X., An P., Long Zhao L.H.W., Li Q.Y., Yan H., et al. Narcolepsy onset is seasonal and increased following the H1N1 pandemic in China. Annals of Neurology 2011, 70:410-417.
29. Mignot E., Hayduk R., Black J., Grumet F.C., Guilleminault C. HLA DQB1 * 0602 is associated with cataplexy in 509 narcoleptic patients. Sleep 1997, 20:1012-1020.
30. Hong S.-C., Lin L., Lo B., Jeong J.-H., Shin Y.-K., Kim S.-Y., Kweon Y., Zhang J., Einen M., Smith A., et al. DQB1 * 0301 and DQB1 * 0601 modulate narcolepsy susceptibility in Koreans. Human Immunology 2007, 68:59-68.
31. Krangel M.S. Mechanics of T cell receptor gene rearrangement. Current Opinion in Immunology 2009, 21:133-139.
32. Kornum B.R., Kawashima M., Faraco J., Lin L., Rico T.J., Hesselson S., Axtell R.C., Kuipers H., Weiner K., Hamacher A., et al. Common variants in P2RY11 are associated with narcolepsy. Nature Genetics 2011, 43:66-71.
33. Neumann H., Cavalié A., Jenne D.E., Wekerle H. Induction of MHC class I genes in neurons. Science 1995, 269:549-552.
34. Syken J., Shatz C.J. Expression of T cell receptor beta locus in central nervous system neurons. PNAS 2003, 100:13048-13053.
35. Moore D.J., Chambers J.K., Wahlin J.P., Tan K.B., Moore G.B., Jenkins O., Emson P.C., Murdock P.R. Expression pattern of human P2Y receptor subtypes: a quantitative reverse transcription-polymerase chain reaction study. Biochimica et Biophysica Acta 2001, 1521:107-119.
36. Glynn M.W., Elmer B.M., Garay P.A., Liu X.B., Needleman L.A., El-Sabeawy F., McAllister A.K. MHCI negatively regulates synapse density during the establishment of cortical connections. Nature Neuroscience 2011, 14:442-451.
37. Shatz C.J. MHC class I: an unexpected role in neuronal plasticity. Neuron 2009, 64:40-45.
38. Stevens B., Allen N.J., Vazquez L.E., Howell G.R., Christopherson K.S., Nouri N., Micheva K.D., Mehalow A.K., Huberman A.D., Stafford B., et al. The classical complement cascade mediates CNS synapse elimination. Cell 2007, 131:1164-1178.
39. Boulanger L.M. Immune proteins in brain development and synaptic plasticity. Neuron 2009, 64:93-109.
40. Mueller D.L. Mechanisms maintaining peripheral tolerance. Nature Immunology 2010, 11:21-27.
41. Overeem S., Black J.L., Lammers G.J. Narcolepsy: immunological aspects. Sleep Medicine Reviews 2008, 12:95-107.
42. Tanaka S., Honda M. IgG abnormality in narcolepsy and idiopathic hypersomnia. PLoS ONE 2010, 5:e9555.
43. Deloumeau A., Bayard S., Coquerel Q., Déchelotte P., Bole-Feysot C., Carlander B., Cochen De Cock V., Fetissov S.O., Dauvilliers Y. Increased immune complexes of hypocretin autoantibodies in narcolepsy. PLoS ONE 2010, 5:e13320.
44. Cvetkovic-Lopes V., Bayer L., Dorsaz S., Maret S., Pradervand S., Dauvilliers Y., Lecendreux M., Lammers G.J., Donjacour C.E.H.M., Du Pasquier R.A., et al. Elevated Tribbles homolog 2-specific antibody levels in narcolepsy patients. The Journal of Clinical Investigation 2010, 120:713-719.
45. Kawashima M., Lin L., Tanaka S., Jennum P., Knudsen S., Nevsimalova S., Plazzi G., Mignot E. Anti-Tribbles homolog 2 (TRIB2) autoantibodies in narcolepsy are associated with recent onset of cataplexy. Sleep 2010, 33:869-874.
46. Toyoda H., Tanaka S., Miyagawa T., Honda Y., Tokunaga K., Honda M. Anti-Tribbles homolog 2 autoantibodies in Japanese patients with narcolepsy. Sleep 2010, 33:875-878.
47. Sung H.Y., Francis S.E., Crossman D.C., Kiss-Toth E. Regulation of expression and signalling modulator function of mammalian tribbles is cell-type specific. Immunology Letters 2006, 104:171-177.
48. Eder K., Guan H., Sung H.Y., Ward J., Angyal A., Janas M., Sarmay G., Duda E., Turner M., Dower S.K., et al. Tribbles-2 is a novel regulator of inflammatory activation of monocytes. International Immunology 2008, 20:1543-1550.
49. Roberts W.K., Darnell R.B. Neuroimmunology of the paraneoplastic neurological degenerations. Current Opinion in Immunology 2004, 16:616-622.
50. Dauvilliers Y., Montplaisir J., Cochen V., Desautels A., Einen M., Lin L., Kawashima M., Bayard S., Monaca C., Tiberge M., et al. Post-H1N1 narcolepsy-cataplexy. Sleep 2010, 33:1428-1430.
51. Picchioni D., Hope C.R., Harsh J.R. A case-control study of the environmental risk factors for narcolepsy. Neuroepidemiology 2007, 29:185-192.
52. Ton T.G.N., Longstreth W.T., Koepsell T. Active and passive smoking and risk of narcolepsy in people with HLA DQB1 * 0602: a population-based case-control study. Neuroepidemiology 2009, 32:114-121.
53. Snider L.A., Swedo S.E. Post-streptococcal autoimmune disorders of the central nervous system. Current Opinion in Neurology 2003, 16:359-365.
54. Dale R.C., Church A.J., Surtees R.a.H., Lees A.J., Adcock J.E., Harding B., Neville B.G.R., Giovannoni G. Encephalitis lethargica syndrome: 20 new cases and evidence of basal ganglia autoimmunity. Brain 2004, 127:21-33.
55. Sundberg E.J., Deng L., Mariuzza R.a. TCR recognition of peptide/MHC class II complexes and superantigens. Seminars in Immunology 2007, 19:262-271.
56. Petersson K., Pettersson H., Skartved N.J., Walse B., Forsberg G. Staphylococcal enterotoxin H induces V alpha-specific expansion of T cells. Journal of Immunology 2003, 170:4148-4154.
57. Andersen P.S., Lavoie P.M., Sékaly R.P., Churchill H., Kranz D.M., Schlievert P.M., Karjalainen K., Mariuzza R.a. Role of the T cell receptor alpha chain in stabilizing TCR-superantigen-MHC class II complexes. Immunity 1999, 10:473-483.
58. Abbott N.J. Inflammatory mediators and modulation of blood-brain barrier permeability. Cellular and Molecular Neurobiology 2000, 20:131-147.
59. Sharma H.S, Hoopes P.J. Hyperthermia induced pathophysiology of the central nervous system. International Journal of Hyperthermia 2003, 19:325-354.
60. Morel S., Didierlaurent A., Bourguignon P., Delhaye S., Baras B., Jacob V., Planty C., Elouahabi A., Harvengt P., Carlsen H., et al. Adjuvant System AS03 containing α-tocopherol modulates innate immune response and leads to improved adaptive immunity. Vaccine 2011, 29:2461-2473.
61. Tsai T.F., Crucitti A., Nacci P., Nicolay U., Cioppa G.D., Ferguson J., Clemens R. Explorations of clinical trials and pharmacovigilance databases of MF59(®)-adjuvanted influenza vaccines for associated cases of narcolepsy. Scandinavian Journal of Infectious Diseases 2011, 10.3109/00365548.2011.580777.
62. Carmona A., Omeñaca F., Tejedor J.C., Merino J.M., Vaman T., Dieussaert I., Gillard P., Arístegui J. Immunogenicity and safety of AS03-adjuvanted 2009 influenza A H1N1 vaccine in children 6-35 months. Vaccine 2010, 28:5837-5844.
63. Meier S., Bel M., L'huillier A., Crisinel P.-A., Combescure C., Kaiser L., Grillet S., Pósfay-Barbe K., Siegrist C.-A. Antibody responses to natural influenza A/H1N1/09 disease or following immunization with adjuvanted vaccines, in immunocompetent and immunocompromised children. Vaccine 2011, 29:3548-3557.
64. von Economo C. Encephalitis litargica. Translated by Newman KO 1931, Oxford University Press.
65. Ravenholt R.T., Foege W.H. 1918 influenza, encephalitis lethargica, parkinsonism. Lancet 1982, 2:860-864.
66. Kleitman N. Sleep and Wakefulness 1987, The University of Chicago Press.
67. Lopez-Alberola R., Georgiou M., Sfakianakis G.N., Singer C., Papapetropoulos S. Contemporary Encephalitis Lethargica: phenotype, laboratory findings and treatment outcomes. Journal of Neurology 2009, 256:396-404.
68. Dale R.C., Church A.J., Cardoso F., Goddard E., Cox T.C., Chong W.K., Williams A., Klein N.J., Neville B.G., Thompson E.J., et al. Poststreptococcal acute disseminated encephalomyelitis with basal ganglia involvement and auto-reactive antibasal ganglia antibodies. Annals of Neurology 2001, 50:588-595.
69. Hamza T.H., Zabetian C.P., Tenesa A., Laederach A., Montimurro J., Yearout D., Kay D.M., Doheny K.F., Paschall J., Pugh E., et al. Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. Nature Genetics 2010, 42:781-785.
70. Stefansson H., Ophoff R.A., Steinberg S., Andreassen O.A., Cichon S., Rujescu D., Werge T., Pietiläinen O.P.H., Mors O., Mortensen P.B., et al. Common variants conferring risk of schizophrenia. Nature 2009, 460:744-747.
71. von Economo C. Sleep as a problem of localization. The Journal of Nervous and Mental Disease 1930, 71:249-259.
72. Allen Mouse Brain Atlas [Internet]. Seattle (WA): Allen Institute for Brain Science. ©2009. Available from: http://mouse.brain-map.org/.