Narkolepsja - czy poznaliśmy wszystkie tajemnice choroby?

• Authors: Aleksandra Wierzbicka , Adam Wichniak , Wojciech Jernajczyk

Title variants

EN

Narcolepsy - have we found all mysteries of the illness?

• Languages of publication: PL EN

Abstracts

PL

Narkolepsja jest przewlekłą chorobą neurologiczną, charakteryzującą się nadmierną sennością w ciągu dnia, katapleksją oraz zaburzeniami snu REM. Związana jest z niedoborem hipokretyny w ośrodkowym układzie nerwowym. Za przyczynę utraty komórek hipokretynowych odpowiada prawdopodobnie reakcja autoimmunologiczna, czego dowodzą prowadzone w ostatnich latach badania. Niniejszy artykuł przedstawia charakterystykę kliniczną choroby, metody diagnostyczne i terapeutyczne oraz najnowsze doniesienia na temat etiologii choroby.

EN

Narcolepsy is a chronic neurological disorder, characterized by excessive daytime sleepiness, cataplexy and disorders of REM sleep. Narcolepsy is linked with hypocretin deficiency in central nervous system. There is ongoing evidence that loss of hypocretin neurons is caused most probably by autoimmune process. This paper presents clinical characteristics of narcolepsy, diagnostic and therapeutic management in narcolepsy, as well as the most recent data on etiology of the disorder.

• Journal: Kosmos
• Year: 2014
• Volume: 63
• Issue: 2
• Pages: 245-252

Dates

published

2014

Contributors

author

Aleksandra Wierzbicka

• Zakład Neurofizjologii Klinicznej, Instytut Psychiatrii i Neurologii w Warszawie, Sobieskiego 9 02-957 Warszawa, Polska

author

Adam Wichniak

• III Klinika Psychiatryczna, Instytut Psychiatrii i Neurologii w Warszawie, Sobieskiego 9, 02-957 Warszawa, Polska

author

Wojciech Jernajczyk

• Zakład Neurofizjologii Klinicznej, Instytut Psychiatrii i Neurologii w Warszawie, Sobieskiego 9 02-957 Warszawa, Polska

References

• Aasm (American Academy of Sleep Medicine), 2014. Central disorders of hypersomnolence. [W:] International Classification of Sleep Disorders (ICSD-3). Darien, IL., 146-161.
• Aran A., Lin L., Nevsimalova S., Plazzi G., Hong S. C., Weiner K., Zeitzer J., Mignot E., 2009. Elevated anti-streptococcal antibodies in patients with recent narcolepsy onset. Sleep 32, 979-983.
• Baumann C. R., Bassetti C. L., Valko P. O., Haybaeck J., Keller M., Clark E., Stocker R., Tolnay M., Scammell T. E., 2009. Loss of hypocretin (orexin) neurons with traumatic brain injury. Ann. Neurol. 66, 555-559.
• Billiard M., Pasquie-Magnetto V., Heckman M., Carlander B., Besset A., Zachariev Z., Eliaou J. F., Malafosse A., 1994. Family studies in narcolepsy. Sleep 17, S54-S59.
• Blouin A. M., Thannickal T. C., Worley P. F., Baraban J. M., Reti I. M., Siegel J. M., 2005. Narp immunostaining of human hypocretin (orexin) neurons: loss in narcolepsy. Neurology 65, 1189-1192.
• Bonnavion P., De L. L., 2010. Hypocretins in the control of sleep and wakefulness. Curr. Neurol. Neurosci. Rep. 10, 174-179.
• Boscolo-Berto R., Viel G., Montagnese S., Raduazzo D. I., Ferrara S. D., Dauvilliers Y., 2012. Narcolepsy and effectiveness of gamma-hydroxybutyrate (GHB): a systematic review and meta-analysis of randomized controlled trials. Sleep Med. Rev. 16, 431-443.
• 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., Fitch T. E., Nakazato M., Hammer R. E., Saper C. B., Yanagisawa M., 1999. Narcolepsy in orexin knockout mice: molecular genetics of sleep regulation. Cell 98, 437-451.
• Chiu H. F., Wing Y. K., Lam L. C., Li S. W., Lum C. M., Leung T., Ho C. K., 2000. Sleep-related injury in the elderly - an epidemiological study in Hong Kong. Sleep 23, 513-517.
• Cvetkovic-Lopes V., Bayer L., Dorsaz S., Maret S., Pradervand S., Dauvilliers Y., Lecendreux M., Lammers G. J., Donjacour C. E., Du Pasquier R. A., Pfister C., Petit B., Hor H., Muhlethaler M., Tafti M., 2010. Elevated Tribbles homolog 2-specific antibody levels in narcolepsy patients. J. Clin. Invest. 120, 713-719.
• Dauvilliers Y., Carlander B., Rivier F., Touchon J., Tafti M., 2004. Successful management of cataplexy with intravenous immunoglobulins at narcolepsy onset. Ann. Neurol. 56, 905-908.
• Dauvilliers Y., Bassetti C., Lammers G. J., Arnulf I., Mayer G., Rodenbeck A., Lehert P., Ding C. L., Lecomte J. M., Schwartz J. C., 2013. Pitolisant versus placebo or modafinil in patients with narcolepsy: a double-blind, randomised trial. Lancet Neurol. 12, 1068-1075.
• De Lecea L., Kilduff T. S., Peyron C., Gao X., Foye P. E., Danielson P. E., Fukuhara C., Battenberg E. L., Gautvik V. T., Bartlett F. S., Frankel W. N., Van Den Pol A. N., Bloom F. E., Gautvik K. M., Sutcliffe J. G., 1998. The hypocretins: hypothalamus-specific peptides with neuroexcitatory activity. Proc. Natl. Acad. Sci. USA 95, 322-327.
• Fontana A., Gast H., Reith W., Recher M., Birchler T., Bassetti C. L., 2010. Narcolepsy: autoimmunity, effector T cell activation due to infection, or T cell independent, major histocompatibility complex class II induced neuronal loss? Brain 133, 1300-1311.
• Fronczek R., Overeem S., Lee S. Y., Hegeman I. M., Van P. J., Van Duinen S. G., Lammers G. J., Swaab D. F., 2008. Hypocretin (orexin) loss and sleep disturbances in Parkinson's Disease. Brain 131, e88.
• Hallmayer J., Faraco J., Lin L., Hesselson S., Winkelmann J., Kawashima M., Mayer G., Plazzi G., Nevsimalova S., Bourgin P., Hong S. C., Honda Y., Honda M., Hogl B., Longstreth W. T., Jr. i współaut, 2009. Narcolepsy is strongly associated with the T-cell receptor alpha locus. Nat. Genet. 41, 708-711.
• Han F., Lin L., Warby S. C., Faraco J., Li J., Dong S. X., An P., Zhao L., Wang L. H., Li Q. Y., Yan H., Gao Z. C., Yuan Y., Strohl K. P., Mignot E., 2011. Narcolepsy onset is seasonal and increased following the 2009 H1N1 pandemic in China. Ann. Neurol. 70, 410-417.
• Hublin C., Partinen M., Kaprio J., Koskenvuo M., Guilleminault C., 1994. Epidemiology of narcolepsy. Sleep 17, S7-S12.
• Inocente C., Arnulf I., Bastuji H., Thibault-Stoll A., Raoux A., Reimao R., Lin J. S., Franco P., 2012. Pitolisant, an inverse agonist of the histamine H3 receptor: an alternative stimulant for narcolepsy-cataplexy in teenagers with refractory sleepiness. Clin. Neuropharmacol. 35, 55-60.
• Kawashima M., Lin L., Tanaka S., Jennum P., Knudsen S., Nevsimalova S., Plazzi G., Mignot E., 2010. Anti-Tribbles homolog 2 (TRIB2) autoantibodies in narcolepsy are associated with recent onset of cataplexy. Sleep 33, 869-874.
• Knudsen S., Biering-Sorensen B., Kornum B. R., Petersen E. R., Ibsen J. D., Gammeltoft S., Mignot E., Jennum P. J., 2012. Early IVIg treatment has no effect on post-H1N1 narcolepsy phenotype or hypocretin deficiency. Neurology 79, 102-103.
• Lavie P., Peled R., 1987. Narcolepsy is a rare disease in Israel. Sleep 10, 608-609.
• Lin L., Faraco J., Li R., Kadotani H., Rogers W., Lin X., Qiu X., De Jong P. J., Nishino S., Mignot E., 1998. Genetic and familial aspects of narcolepsy. Neurology 50, S16-S22.
• Mignot E., 1999. The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene. Cell 98, 365-376.
• Mignot E. J., 2012. A practical guide to the therapy of narcolepsy and hypersomnia syndromes. Neurotherapeutics 9, 739-752.
• Mignot E., Lin X., Hesla P. E., Dement W. C., Guilleminault C., Grumet F. C., 1993. A novel HLA DR17,DQ1 (DQA1-0102/DQB1-0602 positive) haplotype predisposing to narcolepsy in Caucasians. Sleep 16, 764-765.
• Mignot E., Lin X., Arrigoni J., Macaubas C., Olive F., Hallmayer J., Underhill P., Guilleminault C., Dement W. C., Grumet F. C., 1994. DQB1*0602 and DQA1*0102 (DQ1) are better markers than DR2 for narcolepsy in Caucasian and black Americans. Sleep 17, S60-S67.
• Mignot E., Lammers G. J., Ripley B., Okun M., Nevsimalova S., Overeem S., Vankova J., Black J., Harsh J., Bassetti C., Schrader H., Nishino S., 2002. The role of cerebrospinal fluid hypocretin measurement in the diagnosis of narcolepsy and other hypersomnias. Arch. Neurol. 59, 1553-1562.
• Nightingale S., Orgill J. C., Ebrahim I. O., De Lacy S. F., Agrawal S., Williams A. J., 2005. The association between narcolepsy and REM behavior disorder (RBD). Sleep Med. 6, 253-258.
• Nishino S., Ripley B., Overeem S., Lammers G. J., Mignot E., 2000. Hypocretin (orexin) deficiency in human narcolepsy. Lancet 355, 39-40.
• Overeem S., Mignot E., Van Dijk J. G., Lammers G. J., 2001. Narcolepsy: clinical features, new pathophysiologic insights, and future perspectives. J. Clin. Neurophysiol. 18, 78-105.
• Partinen M., Saarenpaa-Heikkila O., Ilveskoski I., Hublin C., Linna M., Olsen P., Nokelainen P., Alen R., Wallden T., Espo M., Rusanen H., Olme J., Satila H., Arikka H., Kaipainen P., Julkunen I., Kirjavainen T., 2012. Increased incidence and clinical picture of childhood narcolepsy following the 2009 H1N1 pandemic vaccination campaign in Finland. PLoS One 7, e33723.
• Peyron C., Faraco J., Rogers W., Ripley B., Overeem S., Charnay Y., Nevsimalova S., Aldrich M., Reynolds D., Albin R., Li R., Hungs M., Pedrazzoli M., Padigaru M., Kucherlapati M., Fan J., Maki R., Lammers G. J., Bouras C., Kucherlapati R., Nishino S., Mignot E., 2000. A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains. Nat. Med. 6, 991-997.
• Plazzi G., Poli F., Franceschini C., Parmeggiani A., Pirazzoli P., Bernardi F., Mignot E., Cicognani A., Montagna P., 2008. Intravenous high-dose immunoglobulin treatment in recent onset childhood narcolepsy with cataplexy. J. Neurol. 255, 1549-1554.
• Sakurai T., Amemiya A., Ishii M., Matsuzaki I., Chemelli R. M., Tanaka H., Williams S. C., Richardson J. A., Kozlowski G. P., Wilson S., Arch J. R., Buckingham R. E., Haynes A. C., Carr S. A., Annan R. S., Mcnulty D. E., Liu W. S., Terrett J. A., Elshourbagy N. A., Bergsma D. J., Yanagisawa M., 1998. Orexins and orexin receptors: a family of hypothalamic neuropeptides and G protein-coupled receptors that regulate feeding behavior. Cell 92, 573-585.
• Sasai T., Inoue Y., Komada Y., Sugiura T., Matsushima E., 2009. Comparison of clinical characteristics among narcolepsy with and without cataplexy and idiopathic hypersomnia without long sleep time, focusing on HLA-DRB1( *)1501/DQB1( *)0602 finding. Sleep Med. 10, 961-966.
• Schenck C. H., Mahowald M. W., 1992. Motor dyscontrol in narcolepsy: rapid-eye-movement (REM) sleep without atonia and REM sleep behavior disorder. Ann. Neurol. 32, 3-10.
• Schenck C. H., Mahowald M. W., 2002. REM sleep behavior disorder: clinical, developmental, and neuroscience perspectives 16 years after its formal identification in SLEEP. Sleep 25, 120-138.
• Scrima L., Hartman P. G., Johnson F. H., Jr., Hiller F. C., 1989. Efficacy of gamma-hydroxybutyrate versus placebo in treating narcolepsy-cataplexy: double-blind subjective measures. Biol. Psychiat. 26, 331-343.
• Silber M. H., Krahn L. E., Olson E. J., Pankratz V. S., 2002. The epidemiology of narcolepsy in Olmsted County, Minnesota: a population-based study. Sleep 25, 197-202.
• Thannickal T. C., Moore R. Y., Nienhuis R., Ramanathan L., Gulyani S., Aldrich M., Cornford M., Siegel J. M., 2000. Reduced number of hypocretin neurons in human narcolepsy. Neuron 27, 469-474.
• Thannickal T. C., Nienhuis R., Siegel J. M., 2009. Localized loss of hypocretin (orexin) cells in narcolepsy without cataplexy. Sleep 32, 993-998.
• Valko P. O., Khatami R., Baumann C. R., Bassetti C. L., 2008. No persistent effect of intravenous immunoglobulins in patients with narcolepsy with cataplexy. J. Neurol. 255, 1900-1903.
• Wierzbicka A., Wichniak A., Szatkowska E., Musińska I., Czasak K., Waliniowska E., Jakubczyk T., Jernajczyk W., 2006. Różnicowanie narkolepsji z innymi hipersomniami na podstawie obrazu klinicznego i badań neurofizjologicznych. Sen 2, 47-53.
• Wierzbicka A., Wichniak A., Waliniowska E., Szatkowska E., Czasak K., Musińska I., Jernajczyk W., 2007. Ocena nasilenia objawów klinicznych, stopnia niepełnosprawności oraz jakości życia w narkolepsji i innych hipersomniach. Sen 7, 88-93.
• Wierzbicka A., Wichniak A., Waliniowska E., Czasak K., Musinska I., Szatkowska E., Ryglewicz D., Jernajczyk W., 2009. REM sleep behaviour disorder in narcolepsy. Neurol. Neurochir. Pol. 43, 421-427.
• Wijnans L., Lecomte C., De V. C., Weibel D., Sammon C., Hviid A., Svanstrom H., Molgaard-Nielsen D., Heijbel H., Dahlstrom L. A., Hallgren J., Sparen P., Jennum P., Mosseveld M. i współaut., 2013. The incidence of narcolepsy in Europe: before, during, and after the influenza A(H1N1)pdm09 pandemic and vaccination campaigns. Vaccine 31, 1246-1254.
• Wing Y. K., Chen L., Lam S. P., Li A. M., Tang N. L., Ng M. H., Cheng S. H., Ho C. K., Mok V., Leung H. W., Lau A., Chan M. H., Chan H. S., Chan P. S., 2011. Familial aggregation of narcolepsy. Sleep Med. 12, 947-951.
• Zawilska J. B., Woldan-Tambor A., Plocka A., Kuzajska K., Wojcieszak J., 2012. [Narcolepsy: etiology, clinical features, diagnosis and treatment]. Pos. Hig. Med. Dosw. 66, 771-786.