KEGG   DISEASE: Narcolepsy
Entry
H01293                      Disease                                

Name
Narcolepsy
Description
Narcolepsy is a disabling sleep disorder characterized by irresistible excessive daytime sleepiness and cataplexy, a condition triggered by strong emotions leading to a sudden loss of muscle tone. Narcolepsy is a rare and mainly sporadic disorder. Familial narcolepsy accounts for less than 10% of all narcolepsy cases, and causative mutations have not been identified to date. The discovery of hypocretin-1 (HCRT) deficiency shed light on the underlying pathophysiology of the disease. The hypocretin neurotransmission system was shown to play a major role in controlling vigilance states. Because of the strong HLA association, hypocretin deficiency is believed to be caused by an autoimmune attack. It has also been reported that a missense mutation in myelin oligodendrocyte glycoprotein (MOG) is the cause of narcolepsy.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H01293  Narcolepsy
Human diseases in ICD-11 classification [BR:br08403]
 07 Sleep-wake disorders
  Hypersomnolence disorders
   7A20  Narcolepsy
    H01293  Narcolepsy
Gene
HCRT [HSA:3060] [KO:K05246]
MOG [HSA:4340] [KO:K17270]
Drug
Sodium oxybate [DR:D05866]
Amphetamine sulfate [DR:D02074]
Dextroamphetamine sulfate [DR:D02078]
Methylphenidate hydrochloride [DR:D01296]
Modafinil [DR:D01832]
Armodafinil [DR:D03215]
Solriamfetol hydrochloride [DR:D11328]
Pitolisant hydrochloride [DR:D11490]
Other DBs
ICD-11: 7A20
ICD-10: G47.4
MeSH: D009290
OMIM: 161400 614250
Reference
  Authors
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 GJ, Bouras C, Kucherlapati R, Nishino S, Mignot E
  Title
A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains.
  Journal
Nat Med 6:991-7 (2000)
DOI:10.1038/79690
Reference
  Authors
Hor H, Bartesaghi L, Kutalik Z, Vicario JL, de Andres C, Pfister C, Lammers GJ, Guex N, Chrast R, Tafti M, Peraita-Adrados R
  Title
A missense mutation in myelin oligodendrocyte glycoprotein as a cause of familial narcolepsy with cataplexy.
  Journal
Am J Hum Genet 89:474-9 (2011)
DOI:10.1016/j.ajhg.2011.08.007
Reference
  Authors
Kornum BR, Faraco J, Mignot E
  Title
Narcolepsy with hypocretin/orexin deficiency, infections and autoimmunity of the brain.
  Journal
Curr Opin Neurobiol 21:897-903 (2011)
DOI:10.1016/j.conb.2011.09.003
Reference
  Authors
Hirai N, Nishino S
  Title
Recent advances in the treatment of narcolepsy.
  Journal
Curr Treat Options Neurol 13:437-57 (2011)
DOI:10.1007/s11940-011-0137-6
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