Sleepiness that cannot be overcome: Narcolepsy and cataplexy

Respirology

Volumn 17, Issue 8, 2012, Pages 1157-1165

  Han, Fang ^a  

^a PEKING UNIVERSITY PEOPLE S HOSPITAL   (China)

Author keywords

human leucocyte antigen; hypocretin; narcolepsy; sleep apnoea; sleepiness

Indexed keywords

ALPHA TOCOPHEROL; ANTIDEPRESSANT AGENT; CENTRAL STIMULANT AGENT; HYPNOTIC AGENT; INFLUENZA VACCINE; MODAFINIL; OREXIN; OXYBATE SODIUM; SQUALENE;

ADJUVANT THERAPY; CATAPLEXY; CLINICAL FEATURE; CLINICAL PRACTICE; DIAGNOSTIC TEST; DISEASE SEVERITY; EXERCISE; GENETIC RISK; HUMAN; INFLUENZA; INFLUENZA VACCINATION; NARCOLEPSY; NARCOLEPSY CATAPLEXY SYNDROME; NONHUMAN; PATHOPHYSIOLOGY; PRIORITY JOURNAL; RESPIRATION CONTROL; REVIEW; SLEEP DISORDER; SLEEP DISORDERED BREATHING; SLEEP TIME; SOMNOLENCE; TREATMENT PLANNING;

ANIMALS; CATAPLEXY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HLA-DQ BETA-CHAINS; HUMANS; HYPOTHALAMUS; INCIDENCE; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MICE; NARCOLEPSY; NEUROPEPTIDES; PREVALENCE; RESPIRATORY TRACT INFECTIONS; SLEEP APNEA SYNDROMES;

EID: 84866644681     PISSN: 13237799     EISSN: 14401843     Source Type: Journal    
DOI: 10.1111/j.1440-1843.2012.02178.x     Document Type: Review

References (79)

1. The International Classification of Sleep Disorders: Diagnostic and Coding Manual, 2nd edn. American Academy of Sleep Medicine, Westchester, 2005.
2. Hublin C, Kaprio J, Partinem M, et al,. Daytime sleepiness in an adult, Finnish population. J. Intern. Med. 1996; 239: 417-23.
3. Douglas NJ,. 'Why am I sleepy?': sorting the somnolent. Am. J. Respir. Crit. Care Med. 2001; 163: 1310-3.
4. Lin L, Faraco J, Li R, et al,. The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene. Cell 1999; 98: 365-76.
5. Chemelli RM, Willie JT, Sinton CM, et al,. Narcolepsy in orexin knockout mice: molecular genetics of sleep regulation. Cell 1999; 98: 437-51.
6. Nishino S, Ripley B, Overeem S, et al,. Hypocretin (orexin) deficiency in human narcolepsy. Lancet 2000; 355: 39-40.
7. Thannickal TC, Moore RY, Nienhuis R, et al,. Reduced number of hypocretin neurons in human narcolepsy. Neuron 2000; 27: 469-74.
8. 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.
9. Nishino S,. The hypocretin/orexin system in health and disease. Biol. Psychiatry 2003; 54: 87-95.
10. Williams RH, Burdakov D,. Hypothalamic orexins/hypocretins as regulators of breathing. Expert Rev. Mol. Med. 2008; 2: e28.
11. Kuwaki T,. Orexinergic modulation of breathing across vigilance states. Respir. Physiol. Neurobiol. 2008; 164: 204-12.
12. Kuwaki T, Li A, Nattie E,. State-dependent central chemoreception: a role of orexin. Respir. Physiol. Neurobiol. 2010; 173: 223-9.
13. Nattie E, Li A,. Central chemoreception in wakefulness and sleep: evidence for a distributed network and a role for orexin. J. Appl. Physiol. 2010; 108: 1417-24.
14. Han F, Mignot E, Wei YC, et al,. Ventilatory chemoresponsiveness, narcolepsy-cataplexy, and human leukocyte antigen DQB1*0602 status. Eur. Respir. J. 2010; 36: 577-83.
15. Han F,. Narcolepsy, orexins and respiratory regulation. Sleep Biol. Rhythms 2011; 9: 44-51.
16. Pataka AD, Frangulyan RR, Mackay TW, et al,. Narcolepsy and sleep-disordered breathing. Eur. J. Neurol. 2011. [Epub ahead of print]. doi: 10.1111/j.1468-1331.2011.03610.x
17. Dauvilliers Y, Arnulf I, Mignot E,. Narcolepsy with cataplexy. Lancet 2007; 369: 499-511.
18. Hublin C, Kaprio J, Partinen M, et al,. The prevalence of narcolepsy: an epidemiological study of the Finnish Twin Cohort. Ann. Neurol. 1994; 35: 709-16.
19. Ohayon MM, Priest RG, Zulley J, et al,. Prevalence of narcolepsy symptomatology and diagnosis in the European general population. Neurology 2002; 58: 1826-33.
20. Wing YK, Li RH, Lam CW, et al,. The prevalence of narcolepsy among Chinese in Hong Kong. Ann. Neurol. 2002; 51: 578-84.
21. Silber MH, Krahn LE, Olson EJ, et al,. The epidemiology of narcolepsy in Olmsted County, Minnesota: a population-based study. Sleep 2002; 25: 197-202.
22. Longstreth WT Jr, Koepsell TD, Ton TG, et al,. The epidemiology of narcolepsy. Sleep 2007; 30: 13-26.
23. Dauvilliers Y, Montplaisir J, Molinari N, et al,. Age at onset of narcolepsy in two large populations of patients in France and Quebec. Neurology 2001; 57: 2029-33.
24. Han F, Lin L, Li J, et al,. Presentations of primary hypersomnia in Chinese children. Sleep 2011; 34: 627-32.
25. Mignot E,. Genetic and familial aspects of narcolepsy. Neurology 1998; 50: S16-22.
26. Poryazova R, Siccoli M, Werth E, et al,. Unusually prolonged rebound cataplexy after withdrawal of fluoxetine. Neurology 2005; 65: 967-8.
27. Guilleminault C,. Cataplexy. In:, Guilleminault C, Dement W, Passouant P, (eds) Narcolepsy. Spectrum, New York, 1976; 125-43.
28. Overeem S, Reijntjes R, Huyser W, et al,. Corticospinal excitability during laughter: implications for cataplexy and the comparison with REM sleep atonia. J. Sleep Res. 2004; 13: 257-64.
29. Ohayon MM,. Prevalence of hallucinations and their pathological associations in the general population. Psychiatry Res. 2000; 97: 153-64.
30. Wierzbicka A, Wichniak A, Waliniowska E, et al,. REM sleep behaviour disorder in narcolepsy. Neurol. Neurochir. Pol. 2009; 43: 421-7.
31. Plazzi G, Ferri R, Antelmi E, et al,. Restless legs syndrome is frequent in narcolepsy with cataplexy patients. Sleep 2010; 33: 689-94.
32. Goswami M., The influence of clinical symptoms on quality of life in patients with narcolepsy. Neurology 1998; 50: S31-6.
33. Bourgin P, Zeitzer JM, Mignot E,. CSF hypocretin-1 assessment in sleep and neurological disorders. Lancet Neurol. 2008; 7: 649-62.
34. Dauvilliers Y,. Differential diagnosis in hypersomnia. Curr. Neurol. Neurosci. Rep. 2006; 6: 156-62.
35. 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.
36. Hor H, Kutalik Z, Dauvilliers Y, et al,. Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy. Nat. Genet. 2010; 42: 786-9.
37. Chabas D, Taheri S, Renier C, et al,. The genetics of narcolepsy. Annu. Rev. Genomics Hum. Genet. 2003; 4: 459-83.
38. Taheri S, Mignot E,. The genetics of sleep disorders. Lancet Neurol. 2002; 1: 242-50.
39. Tafti M, Maret S, Dauvilliers Y,. Genes for normal sleep and sleep disorders. Ann. Med. 2005; 37: 580-9.
40. de Lecea L, Kilduff TS, Peyron C, et al,. The hypocretins: hypothalamus-specific peptides with neuroexcitatory activity. Proc. Natl Acad. Sci. U.S.A. 1998; 95: 322-7.
41. Sakurai T, Amemiya A, Ishii M, et al,. Orexins and orexin receptors: a family of hypothalamic neuropeptides and G protein-coupled receptors that regulate feeding behavior. Cell 1998; 92: 573-85.
42. Peyron C, Tighe DK, van den Pol AN, et al,. Neurons containing hypocretin (orexin) project to multiple neuronal systems. J. Neurosci. 1998; 18: 9996-10015.
43. Mieda M, Sakurai T,. Integrative physiology of orexins and orexin receptors. CNS Neurol. Disord. Drug Targets 2009; 8: 281-95.
44. Willie JT, Chemelli RM, Sinton CM, et al,. Distinct narcolepsy syndromes in Orexin receptor-2 and Orexin null mice: molecular genetic dissection of non-REM and REM sleep regulatory processes. Neuron 2003; 38: 715-30.
45. Hara J, Beuckmann CT, Nambu T, et al,. Genetic ablation of orexin neurons in mice results in narcolepsy, hypophagia, and obesity. Neuron 2001; 30: 345-54.
46. Beuckmann CT, Sinton CM, Williams SC, et al,. Expression of a poly-glutamine-ataxin-3 transgene in orexin neurons induces narcolepsy-cataplexy in the rat. J. Neurosci. 2004; 24: 4469-77.
47. 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.
48. Heier MS, Evsiukova T, Vilming S, et al,. CSF hypocretin-1 levels and clinical profiles in narcolepsy and idiopathic CNS hypersomnia in Norway. Sleep 2007; 30: 969-73.
49. 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.
50. Krahn LE, Pankratz VS, Oliver L, et al,. Hypocretin (orexin) levels in cerebrospinal fluid of patients with narcolepsy: relationship to cataplexy and HLA DQB1*0602 status. Sleep 2002; 25: 733-6.
51. 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.
52. Cvetkovic-Lopes V, Bayer L, Dorsaz S, et al,. Elevated Tribbles homolog 2-specific antibody levels in narcolepsy patients. J. Clin. Invest. 2010; 120: 713-9.
53. Kornum BR, Kawashima M, Faraco J, et al,. Common variants in P2RY11 are associated with narcolepsy. Nat. Genet. 2011; 43: 66-71.
54. Hallmayer J, Faraco J, Lin L, et al,. Narcolepsy is strongly associated with the T-cell receptor alpha locus. Nat. Genet. 2009; 41: 708-11.
55. Han F, Lin L, Li J, et al,. TCRA, P2RY11, and CPT1B/CHKB associations in Chinese narcolepsy. Sleep Med. 2012; 13: 269-72.
56. Aran A, Lin L, Nevsimalova S, et al,. Elevated anti-streptococcal antibodies in patients with recent narcolepsy onset. Sleep 2009; 32: 979-83.
57. 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.
58. Dauvilliers Y, Montplaisir J, Cochen V, et al,. Post-H1N1 narcolepsy-cataplexy. Sleep 2010; 33: 1428-30.
59. Dauvilliers Y, Carlander B, Rivier F, et al,. Successful management of cataplexy with intravenous immunoglobulins at narcolepsy onset. Ann. Neurol. 2004; 56: 905-8.
60. Chen W, Black J, Call P, et al,. Late-onset narcolepsy presenting as rapidly progressing muscle weakness: response to plasmapheresis. Ann. Neurol. 2005; 58: 489-90.
61. Donjacour CE, Lammers GJ,. A remarkable effect of alemtuzumab in a patient suffering from narcolepsy with cataplexy. J. Sleep Res. 2011. [Epub ahead of print]. doi: 10.1111/j.1365-2869.2011.00985.x
62. Dauvilliers Y, Abril B, Mas E, et al,. Normalization of hypocretin-1 in narcolepsy after intravenous immunoglobulin treatment. Neurology 2009; 73: 1333-4.
63. Picchioni D, Hope CR, Harsh JR,. A case control study of the environmental risk factors for narcolepsy. Neuroepidemiology 2007; 29: 185-92.
64. Koepsell TD, Longstreth WT, Ton TG,. Medical exposures in youth and the frequency of narcolepsy with cataplexy: a population based case-control study in genetically predisposed people. J. Sleep Res. 2009; 19: 80-6.
65. 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 Rep. 2011; 1: 1-20.
66. Finnish National Institute for Health and Welfare (THL). National Narcolepsy Task Force Interim Report on Narcolepsy. Report 2011.
67. Zarocostas J,. WHO backs further probes into possible link between H1N1 vaccine and narcolepsy in children. BMJ 2011; 342: d909.
68. Swedish Medical Agency. Swedish Medical Products Agency publishes report from a case inventory study on Pandemrix vaccination and development of narcolepsy with cataplexy. Euro Surveill. 2011; 16: 19904.
69. Von Economo C,. Encephalitis Lethargica. Newman KO, translator. Humphrey Milford: Oxford University Press, London, 1931.
70. Kornum BR, Faraco J, Mignot E,. Narcolepsy with hypocretin/orexin deficiency,infections and autoimmunity of the brain. Curr. Opin. Neurobiol. 2011; 21: 897-903.
71. Ohayon MM, Ferini-Strambi L, Plazzi G, et al,. Frequency of narcolepsy symptoms and other sleep disorders in narcoleptic patients and their first-degree relatives. J. Sleep Res. 2005; 14: 437-45.
72. Schuld A, Hebebrand J, Geller F, et al,. Increased body-mass index in patients with narcolepsy. Lancet 2000; 355: 1274-5.
73. Kuwaki T,. Hypothalamic modulation of breathing. Adv. Exp. Med. Biol. 2010; 669: 243-7.
74. Strohl KP, Cherniack NS, Gothe B,. Physiologic basis of therapy for sleep apnea. Am. Rev. Respir. Dis. 1986; 134: 791-802.
75. Han F, Chen E, Wei H, et al,. Treatment effects on carbon dioxide retention in patients with obstructive sleep apnea-hypopnea syndrome. Chest 2001; 119: 1814-9.
76. Plazzi G, Serra L, Ferri R,. Nocturnal aspects of narcolepsy with cataplexy. Sleep Med. Rev. 2008; 12: 109-28.
77. Ferrillo F, Donadio S, De Carli F, et al,. A model-based approach to homeostatic and ultradian aspects of nocturnal sleep structure in narcolepsy. Sleep 2007; 30: 157-65.
78. 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.
79. Feldman NT,. Clinical perspective: monitoring sodium oxybate-treated narcolepsy patients for the development of sleep-disordered breathing. Sleep Breath. 2010; 14: 77-9.