Narcolepsy pp 309-319 | Cite as

Spectrum of Narcolepsy



The debate about the borderland of narcolepsy and the existence of different forms of narcolepsy started early after the description of the disease and lasts until today.


Narcolepsy without cataplexy Secondary narcolepsy Monosymptomatic narcolepsy Familial narcolepsy Pseudocataplexy 


  1. 1.
    Adie WJ. Idiopathic narcolepsy: a disease sui generis: with remarks on the mechanism of sleep. Brain. 1926;49:257–306.CrossRefGoogle Scholar
  2. 2.
    Wilson SA. The narcolepsies. Brain. 1928;51:63–109.CrossRefGoogle Scholar
  3. 3.
    Yoss RE, Daly DD. Narcolepsy. Med Clin North Am. 1960;44:955–68.Google Scholar
  4. 4.
    Roth B. Narkolepsie. In: Narkolepsie und Hypersomnie. Berlin: VEB Verlag; 1962. p. 130–80.Google Scholar
  5. 5.
    Parkes JD, Baraitser M, Marsden CD, Asselman P. Natural history, symptoms and treatment of the narcoleptic syndrome. Acta Neurol Scand. 1975;52(5):337–53.PubMedCrossRefGoogle Scholar
  6. 6.
    Roth B. Narcolepsy and hypersomnia. Basel: Karger Libri; 1980.Google Scholar
  7. 7.
    Aldrich M. The clinical spectrum of narcolepsy and idiopathic hypersomnia. Neurology. 1996;46:393–401.PubMedCrossRefGoogle Scholar
  8. 8.
    Bassetti C, Aldrich M. Idiopathic hypersomnia. A study of 42 patients. Brain. 1997;120:1423–35.PubMedCrossRefGoogle Scholar
  9. 9.
    Billiard M. Diagnosis of narcolepsy and idiopathic hypersomnia. An update based on the International Classification of Sleep Disorders, 2nd edition. Sleep Med Rev. 2007;11:377–88.PubMedCrossRefGoogle Scholar
  10. 10.
    Silber MH, Krahn LE, Olson EJ, Pankratz VS. The epidemiology of narcolepsy in Olmsted County, Minnesota: a population-based study. Sleep. 2002;25:197–202.PubMedGoogle Scholar
  11. 11.
    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.PubMedCrossRefGoogle Scholar
  12. 12.
    Billiard M, Besset A, Cadilhac J. The clinical and polygraphic development of narcolepsy. In: Guilleminault C, Lugaresi E, editors. Sleep/wake disorders: natural history, epidemiology, and long-term evolution. New York: Raven Press; 1983. p. 171–85.Google Scholar
  13. 13.
    Yoss RE, Daly DD. Criteria for the diagnosis of the narcoleptic syndrome. Mayo Clin Proc. 1957;32:320–8.Google Scholar
  14. 14.
    Sturzenegger C, Bassetti C. The clinical spectrum of narcolepsy with cataplexy: a reappraisal. J Sleep Res. 2004;13:395–406.PubMedCrossRefGoogle Scholar
  15. 15.
    Nevsimalova S, Mignot E, Sonka K, Arrigoni JL. Familial aspects of narcolepsy-cataplexy in the Czech republic. Sleep. 1997;20:1021–6.PubMedGoogle Scholar
  16. 16.
    Baumann CR, Dauvilliers Y, Mignot E, Bassetti CL. Normal CSF hypocretin-1 (orexin A) levels in dementia with Lewy bodies associated with excessive daytime sleepiness. Eur Neurol 2004;52:73–6.Google Scholar
  17. 17.
    American Academy of Sleep Medicine. The international classification of sleep disorders. 2nd ed. Westchester, IL: American Academy of Sleep Medicine; 2005.Google Scholar
  18. 18.
    Mignot E, Hajduk R, Black J, Grumet FC, Guilleminault C. HLA DQB1*0602 is associated with cataplexy in 509 narcoleptic patients. Sleep. 1997;20(11):1012–20.PubMedGoogle Scholar
  19. 19.
    Dauvilliers Y, Baumann CR, Maly FE, Billiard M, Bassetti C. CSF hypocretin-1 levels in narcolepsy, Kleine-Levin syndrome, other hypersomnias and neurological conditions. J Neurol Neurosurg Psychiatry. 2003;74:1667–73.PubMedCrossRefGoogle Scholar
  20. 20.
    Krahn LE, Pankratz VS, Olivier L, Boeve BF, Silber M. Hypocretin (orexin) levels in cerebrospinal fluid of patients with narcolepsy: relationship to cataplexy and HLA DQB1*0602 status. Sleep. 2002;25(7):733–6.PubMedGoogle Scholar
  21. 21.
    Thannickal TC, Nienhuis R, Siegel JM. Localized loss of hypocretin (orexin) cells in narcolepsy without cataplexy. Sleep. 2009;32(8):993–8.PubMedGoogle Scholar
  22. 22.
    Guilleminault C, Mignot E, Partinen M. Controversies in the diagnosis of narcolepsy. Sleep. 1994;17:S1–6.PubMedGoogle Scholar
  23. 23.
    Challamel MJ, Mazzola ME, Nevsimalova S, Cannard C, Louis J, Revol M. Narcolepsy in children. Sleep. 1994;17:17–20.Google Scholar
  24. 24.
    Nishino S, Kanbayashi T. Symptomatic narcolepsy, cataplexy, and hypersomnia, and their implications in the hypothalamic hypocretin/orexin system. Sleep Med Rev. 2005;9:269–310.PubMedCrossRefGoogle Scholar
  25. 25.
    Westphal C. Eigentümliche mit Einschlafen verbundene Anfälle. Arch Psychiat Nervenkr. 1877;7:631–5.Google Scholar
  26. 26.
    Billiard M, Pasquié-Magnetto V, Heckmann M, et al. Family studies in narcolepsy. Sleep. 1994;17:S54–9.PubMedGoogle Scholar
  27. 27.
    Guilleminault C, Mignot E, Grumet FC. Familial patterns of narcolepsy. Lancet. 1989;335:1376–9.CrossRefGoogle Scholar
  28. 28.
    Daly DD, Yoss RE. A family with narcolepsy. Mayo Clin Proc. 1959;34:313–9.Google Scholar
  29. 29.
    Nevsimalova-Bruhova S, Roth B. Heredofamilial aspects of narcolepsy and hypersomnia. Schweiz Arch Neurol Neurochir Psychiatr. 1972;110:45–54.PubMedGoogle Scholar
  30. 30.
    Mayer G, Lattermann A, Mueller-Echardt G, Sbanborg E, Meier-Ewert K. Segregation of HLA genes in multicase narcolepsy families. J Sleep Res. 1998;7:127–33.PubMedCrossRefGoogle Scholar
  31. 31.
    Mignot E. Genetic and familial aspects of narcolepsy. Neurology. 1998;50 Suppl 1:S16–22.PubMedCrossRefGoogle Scholar
  32. 32.
    Schrader H, Gotlibsen OB, Skomedal GN. Multiple sclerosis and narcolepsy/cataplexy in a monozygotic twin. Neurology. 1980;30(1):105–8.PubMedCrossRefGoogle Scholar
  33. 33.
    Melberg A, Dahl N, Hetta J, Valind S. Neuroimaging study in autosomal dominant cerebellar ataxia, deafness, and narcolepsy. Neurology. 1999;53:2190–2.PubMedCrossRefGoogle Scholar
  34. 34.
    Melberg A, Ripley B, Lin L, Hetta J, Mignot E, Nishino H. Hypocretin deficiency in familial symptomatic narcolepsy. Ann Neurol. 2001;49(1):136–7.PubMedCrossRefGoogle Scholar
  35. 35.
    Roth B, Bruhova S, Berkova L. Familial sleep paralysis. Schweiz Arch Neurol Neurochir Psychiatr. 1968;102:321–30.PubMedGoogle Scholar
  36. 36.
    Gelardi JAM, Brown JW. Hereditary cataplexy. J Neurol Neurosurg Psychiatr. 1967;30:455–7.PubMedCrossRefGoogle Scholar
  37. 37.
    Dahlitz M, Parkes JD. Sleep paralysis. Lancet. 1993;341:406–7.PubMedCrossRefGoogle Scholar
  38. 38.
    Hartse KM, Zorick F, Sicklesteel J, Roth T. Isolated cataplexy: a familial study. Henry Ford Hosp Med J. 1988;36:24–7.PubMedGoogle Scholar
  39. 39.
    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.PubMedCrossRefGoogle Scholar
  40. 40.
    Partinen M, Hublin C, Kaprio J, Koskenvuo M, Guilleminault C. Twin studies in narcolepsy. Sleep. 1994;17:S13–6.PubMedGoogle Scholar
  41. 41.
    Kaprio J, Hublin C, Partinen M, Heikkilä K, Koskenvuo M. Narcolepsy-like symptoms among adult twins. J Sleep Res. 1996;5(1):55–60.PubMedCrossRefGoogle Scholar
  42. 42.
    Honda M, Honda Y, Uchida S, Miyazaki S, Tokunaga K. Monozygotic twins incompletely concordant for narcolepsy. Biol Psychiatry. 2001;49:943–7.PubMedCrossRefGoogle Scholar
  43. 43.
    Khatami R, Maret S, Werth E, et al. A monozygotic twin pair concordant for narcolepsy-cataplexy without any detectable abnormality in the hypocretin (orexin) pathway. Lancet. 2004;363:1199–200.PubMedCrossRefGoogle Scholar
  44. 44.
    Dauvilliers Y, Maret S, Bassetti CL, et al. A monozygotic twin pair discordant for narcolepsy and CSF hypocretin-1. Neurology. 2004;62:2137–8.PubMedCrossRefGoogle Scholar
  45. 45.
    Anic-Labat S, Guilleminault C, Kraemer HC, Meehan J, Arrigoni J, Mignot E. Validation of a cataplexy questionnaire in 983 sleep-disorders patients. Sleep. 1999;22:77–87.PubMedGoogle Scholar
  46. 46.
    Lankford DA, Wellmann JJ, O’Hara C. Posttraumatic narcolepsy in mild to moderate closed head injury. Sleep. 1994;17:25–8.Google Scholar
  47. 47.
    Roehrs TA, Roth A. Chronic insufficient sleep and its recovery. Sleep Med. 2003;4(1):5–6.PubMedCrossRefGoogle Scholar
  48. 48.
    Bishop C, Rosenthal L, Helmus T, Roehrs T, Roth T. The frequency of multiple sleep onset REM periods among subjects with no excessive daytime sleepiness. Sleep. 1996;19(9):727–30.PubMedGoogle Scholar
  49. 49.
    Aldrich MS, Chervin RD, Malow BA. Value of the multiple sleep latency test (MSLT) for the diagnosis of narcolepsy. Sleep. 1997;20(8):620–9.PubMedGoogle Scholar
  50. 50.
    Dyken ME, Yamada M, Lin-Dyken DC, Seaba P, Yeh M. Diagnosing narcolepsy through the simultaneous clinical and electrophysiologic analysis of cataplexy. Arch Neurol. 1996;53:456–60.PubMedCrossRefGoogle Scholar
  51. 51.
    Rubboli G, d’Orsi G, Zaniboni A, et al. A video-polygraphic analysis of the cataplectic attack. Clin Neurophysiol. 2000;111 Suppl 2:S120–8.PubMedCrossRefGoogle Scholar
  52. 52.
    Paskind HA. Effect of laughter on muscle tone. Arch Neurol Psychiatry. 1932;28:623–8.CrossRefGoogle Scholar
  53. 53.
    Partinen M. Sleeping habits and sleep disorders of Finnish men before, during and after military service. Ann med Milit Fenn. 1982;57:1–96.Google Scholar
  54. 54.
    Overeem S, Lammers GJ, van Dijk JG. Weak with laughter. Lancet. 1999;354:838.PubMedGoogle Scholar
  55. 55.
    Rosenthal C. Ueber das Auftreten von halluzinatorisch-­kataplektischen Angstsyndrom, Wachanfällen und ähnlichen Störungen bei Schizophrenen. Monatsschr Psychiatr Neurologie. 1939;102:11–38.CrossRefGoogle Scholar
  56. 56.
    Krahn LE, Hansen MR, Shepard JW. Pseudocataplexy. Psychosomatics. 2001;42:356–8.PubMedCrossRefGoogle Scholar
  57. 57.
    Kishi Y, Konishi S, Koizumi S, et al. Schizophrenia and narcolepsy: a review with a case report. Psychiatry Clin Neurosci. 2004;58:117–24.PubMedCrossRefGoogle Scholar
  58. 58.
    Krahn LE. Reevaluating spells initially identified as cataplexy. Sleep Med. 2005;6:537–42.PubMedCrossRefGoogle Scholar
  59. 59.
    Ohayon MM, Zulley J, Guilleminault C, Smirne S. Prevalence and pathologic associations of sleep paralysis in the general population. Neurology. 1999;52(6):1194–200.PubMedCrossRefGoogle Scholar
  60. 60.
    Ohayon M. Prevalence of hallucinations and their pathological associations in the general population. Psychiatry Res. 2000;97:153–64.PubMedCrossRefGoogle Scholar
  61. 61.
    Nissen C, Feige B, Nofzinger EA, et al. Transient narcolepsy-cataplexy syndrome after discontinuation of the antidepressant venlafaxine. J Sleep Res. 2005;14(2):207–8.PubMedCrossRefGoogle Scholar
  62. 62.
    Plazzi G, Khatami R, Serra L, Pizza F, Bassetti CL. Pseudocataplexy in narcolepsy with cataplexy. Sleep Med 2010;11:591–4.Google Scholar
  63. 63.
    Oppenheim H. Ueber Lachschlag. Monatsschr Psychiatr Neurologie. 1902;11:242–7.Google Scholar
  64. 64.
    Totah AR, Benbadis SR. Gelastic syncope mistaken for cataplexy. Sleep Med. 2002;3:77–8.PubMedCrossRefGoogle Scholar
  65. 65.
    Bellman M, Pathan AH, Sinclair L. A girl who laughed and fell down. Lancet. 2000;355:2216.PubMedCrossRefGoogle Scholar
  66. 66.
    Khatami R, Birkmann S, Bassetti CL. Absence of aversive startle reflex potentiation in human narcolepsy-cataplexy: implications for amygdala dysfunction. J Sleep Res. 2007;16:226–9.PubMedCrossRefGoogle Scholar
  67. 67.
    Schwartz S, Ponz A, Poryazova R, Werth E, Bösiger P, Bassetti CL. Abnormal activity in hypothalamus and amygdala during humour processing in humany narcolepsy with cataplexy. Brain. 2008;131:514–22.PubMedCrossRefGoogle Scholar
  68. 68.
    Ponz A, Khatami R, Poryazova R, et al. Abnormal activity in reward brain circuits in human narcolepsy with cataplexy. Ann Neurol. 2010;67:190–200.PubMedCrossRefGoogle Scholar
  69. 69.
    Ponz A, Khatami R, Poryazova R, et al. Reduced amygdala activity during aversive conditioning in human narcolepsy. Ann Neurol. 2010;67:394–8.PubMedCrossRefGoogle Scholar
  70. 70.
    Overeem N, Van Hilten JJ, Ripley B, Mignot E, Nishino H, Lammers C. Normal hypocretin-1 levels in Parkinson’s disease patients with excessive daytime sleepiness. Neurology. 2002;58:498–9.PubMedCrossRefGoogle Scholar
  71. 71.
    Baumann CR, Scammell TE, Bassetti CL. Parkinson’s disease, sleepinesss and hypocretin/orexin. Brain. 2008;131:e91.PubMedCrossRefGoogle Scholar
  72. 72.
    Fronczeck R, Overeem S, Lee SY, et al. Hypocretin (orexin) loss in Parkinson’s disease. Brain. 2007;130:1577–85.CrossRefGoogle Scholar
  73. 73.
    Nishino S, Kanbayashi T, Fujiki N, et al. CSF hypocretin levels in Guillain-Barré syndrome and other inflammatory neuropathies. Neurology. 2003;61:823–5.PubMedCrossRefGoogle Scholar
  74. 74.
    Overeem N, Dalmau J, Bataller L, et al. Hypocretin-1 CSF levels in anti-Ma2 associated encephalitis. Neurology. 2004;62(1):138–40.PubMedCrossRefGoogle Scholar
  75. 75.
    Baumann CR, Stocker R, Imhof HG, et al. Hypocretin-1 (orexin A) deficiency in acute traumatic brain injury. Neurology. 2005;65:147–9.PubMedCrossRefGoogle Scholar
  76. 76.
    Baumann CR, Werth E, Stocker R, Luwid S, Bassetti CL. Sleep-wake disturbances 6 months after traumatic brain injury. Brain. 2007;130:1873–83.PubMedCrossRefGoogle Scholar
  77. 77.
    Baumann CR, Bassetti CL, Valko PO, Haybaeck J, Keller M, Clark E, Stocker R, Tolnay M, Scammell TE. Loss of hypocretin (orexin) neurons with traumatic brain injury. Ann Neurol 2009;66:555–9.Google Scholar

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© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  1. 1.Department of NeurologyNeurocenter EOC of Southern SwitzerlandLuganoSwitzerland

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