Narkolepsi
Senast uppdaterad: Senast reviderad:
Sakkunnig:Anna Nager
Definition:
Kronisk neurologisk störning av sömn- vakenhetsregleringen med uttalad sömnighet under dagen.
Förekomst:
Prevalens anges ofta till 0,05 %, det vill säga cirka 4 500 till 5 000 patienter i Sverige.
Symtom:
Generellt uttalad sömnighet på dagtid med anfall med abnormt sömnbehov. Typiskt är också kataplexi, hypnagogiska hallucinationer och sömnparalys.
Kliniska fynd:
Fysisk undersökning är normal.
Diagnos:
Typisk anamnes. Tillståndet verifieras med undersökning i ett sömnlaboratorium/neurofysologiskt laboratorium.
Behandling:
Behandlingen består av information och anpassningar på jobbet eller i skolan. Läkemedelsbehandling ges mot sömnighet, kataplexi och hypnagogiska hallucinationer.
- Scammell TE. Narcolepsy. N Engl J Med. 2015; Dec 31;373(27): 2654-62. pmid:26716917 PubMed
- Zeman A, Britton T, Douglas N, Hansen A, Hicks J, Howard R, Meredith A, Smith I, Stores G, Wilson S, Zaiwalla Z. Narcolepsy and excessive daytime sleepiness. BMJ. 2004 Sep 25;329(7468):724-8. doi: 10.1136/bmj.329.7468.724. PMID: 15388615 PubMed
- Bassetti CLA, Adamantidis A, Burdakov D, Han F, Gay S, Kallweit U, Khatami R, Koning F, Kornum BR, Lammers GJ, Liblau RS, Luppi PH, Mayer G, Pollmächer T, Sakurai T, Sallusto F, Scammell TE, Tafti M, Dauvilliers Y. Narcolepsy - clinical spectrum, aetiopathophysiology, diagnosis and treatment. Nat Rev Neurol. 2019 Sep;15(9):519-539. doi: 10.1038/s41582-019-0226-9. Epub 2019 Jul 19. PMID: 31324898 PubMed
- Britton T, Douglas N, Hansen A, Hicks J, Howard R, Meredith A, et al. Guidelines on the diagnosis and management of narcolepsy in adults and children. Ashtead: Taylor Patten Communications, 2002 (available at www.sleeping.org.uk or www.primarycaresleep.com).
- Overeem S, Mignot E, van Dijk JG, Lammers GJ. Narcolepsy: clinical features, new pathophysiologic insights and future perspectives. J Clin Neurophysiol 2001; 18: 78-105. PubMed
- 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(5): 377–88. www.ncbi.nlm.nih.gov
- Judd BG, Sateia MJ. Classification of sleep disorders. UpToDate 2017 - last updated may 2015. www.uptodate.com
- Silber MH, Krahn LE, Pankratz VS. The epidemiology of narcolepsy in Olmstead County, Minnesota: a population-based study. . Sleep 2002; 25: 197-202. pmid:11902429 PubMed
- Longstreth WT Jr, Koepsell TD, Ton TG. The epidemiology of narcolepsy. Sleep 2007; 30: 13. pmid:17310860 PubMed
- Sand T, Schrader H. Narkolepsi og andre hypersomnier. Oversiktsartikkel. Tidsskr Nor Legeforen 2009; 129: 2007-10. Tidsskrift for Den norske legeforening
- Mignot E. Genetic and familial aspects of narcolepsy. Neurology 1998; 50(suppl 1): 516-22.
- Narkolepsi. Sällsynta hälsotillstånd. Socialstyrelsen. hämtad 210726 www.socialstyrelsen.se
- National institute for health and welfare. Association between Pandemrix and narcolepsy confirmed among Finnish children and adolescents. Sept. 1, 2011.
- Sarkanen T, Alakuijala A, Partinen M. Clinical course of H1N1-vaccine-related narcolepsy. Sleep Med 2016; 19: 17-22. pmid:27198942 PubMed
- Hobson JA, Pace-Schott EF. The cognitive neuroscience of sleep. Nat Rev Neurosci 2002; 3: 670-93. PubMed
- Pace-Schott EF, Hobson JA. The neurobiology of sleep. Nat Rev Neurosci 2002; 3: 591-605. PubMed
- Nishino S, Ripley B, Overeem S, Lammers GJ, Mignot E. Hypocretin (orexin) deficiency in human narcolepsy letter. Lancet 2000; 355: 39-40. PubMed
- Peyron C, Faraco J, Rogers W, Ripley B, Overeem S, Charnay Y, et al. A mutation in a case of early onset narcolepsy and a generalised absence of hypocretin peptides in human narcoleptic brains. Nat Med 2000; 6: 991-7. PubMed
- Thannickal TC, Moore RY, Nienhuls R, Ramanathan L, Gulyani S, Aldrich M, et al. Reduced numbers of hypocretin neurons in human narcolepsy. Neuron 2000; 27: 469-74. PubMed
- Mignot E, Lammers GJ, Ripley B, Okun M, Nevsimalova S, Overeem S, et al. The role of cerebrospinal fluid hypocretin measurement in the diagnosis of narcolepsy and other hypersomnias. Arch Neurol 2002; 59: 1553-62. PubMed
- Scammell T. The neurobiology, diagnosis and treatment of narcolepsy. Ann Neurol 2003; 53: 154-66. PubMed
- 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. pmid:24381371 PubMed
- Miyagawa T, Tokunaga K. Genetics of narcolepsy. Hum Genome Var 2019; 8: eCollection 2019. pmid:30652006 PubMed
- Mignot E, Hayduk R, Black J, Grumet FC, Guilleminault C. HLA DQB1*0602 is associated with cataplexy in 509 narcoleptic patients. Sleep 1997; 20: 1012-20. PubMed
- Kim J, Lee GH, Sung SM, Jung DS, Pak K. Prevalence of attention deficit hyperactivity disorder symptoms in narcolepsy: a systematic review. Sleep Med. 2020 Jan;65:84-88. doi: 10.1016/j.sleep.2019.07.022. Epub 2019 Aug 3. PMID: 31739230. PubMed
- Ruge Møller L, Østergaard JR. Narkolepsi hos børn - en overset diagnose. Ugeskr Læger 2005; 167: 2390-3. PubMed
- Guilleminault C, Pelayo R. Nacolepsy in children. Paediatr Drugs 2000; 2-9.
- Merrill S, Wise MD. Childhood narcolepsy. Neurology 1998; 50(suppl 1): S37-S42.
- Guilleminault C. Narcolepsy in prepubertal children. Ann Neurol 1998; 43: 135-42. PubMed
- McKenna L, McNicholas F. Childhood onset narcolepsy. Eur Child Adolesc Psychiatry 2003; 12: 43-7. PubMed
- Babiker MO, Prasad M. Narcolepsy in children: a diagnostic and management approach. Pediatr Neurol 2015; 52: 557-65. pmid:25838042 PubMed
- Stores G. Recognition and management of narcolepsy. Arch Dis Child 1998; 81: 519-24. PubMed
- Daniels E, King MA, Smith IE, Shneerson JM. Health-related quality of life in narcolepsy. J Sleep Res 2001; 10: 75-81. PubMed
- Johns MJ. A new method for measuring daytime sleepiness: the Epworth sleepiness scale. Sleep 1991; 6: 540-5. PubMed
- Standard of Practice Committee, American Academy of Sleep Medicine. Practice parameters for the treatment of narcolepsy. Sleep 2001; 24: 451-66. PubMed
- Dauvilliers Y, Lecendreux M, Lammers GJ, et al. Safety and efficacy of pitolisant in children aged 6 years or older with narcolepsy with or without cataplexy: a double-blind, randomised, placebo-controlled trial. Lancet Neurol 2023; 22: 303-311. pmid:36931805 PubMed
- Rogers AE, Aldrich MS, Lin X. A comparison of three different sleep schedules for reducing daytime sleepiness in narcolepsy. Sleep 2001; 24: 385-91. PubMed
- Riktlinje för behandling av narkolepsi hos barn och vuxna. NPO Nervsystemets sjukdomar. Nationellt system för kunskapsstyrning Hälso- och sjukvård. Sveriges regioner i samverkan (hämtad 2022-04-11) nationelltklinisktkunskapsstod.se
- US Modafinil in Narcolepsy Multicenter Study Group. Randomized trial of modafinil as a treatment for the excessive daytime somnolence of narcolepsy. Neurology 2000; 54: 1166-75. Neurology
- Scammell TE, Benca R. Treatment of narcolepsy. UpToDate 2013 UpToDate
- Vignatelli L, D'Alessandro R, Candelise L. Antidepressant drugs for narcolepsy. Cochrane Database of Systematic Reviews 2008, Issue 1. Art. No.: CD003724. DOI: 10.1002/14651858.CD003724.pub3. DOI
- Alshaikh MK, Tricco AC, Tashkandi M, et al. Sodium oxybate for narcolepsy with cataplexy: systematic review and meta-analysis. J Clin Sleep Med 2012; 8: 451-8. pmid:22893778 PubMed
- Transportstyrelsens författningssamling 2013:2 www.transportstyrelsen.se
- Anna Nager, docent och specialist i allmänmedicin, Karolinska institutet
Tidigare sakkunniga
- Bjørn Bjorvatn, professor dr.med., Institutt for global helse og samfunnsmedisin, Universitetet i Bergen, og leder av Nasjonal kompetansetjeneste for søvnsykdommer, Haukeland Universitetssykehus
- Ingard Løge, spesialist allmennmedisin, redaktør NEL