Narcolepsy.
Narcolepsy is a chronic sleep disorder that has a typical onset in adolescence and is characterized by excessive daytime sleepiness, which can have severe consequences for the patient. Problems faced by patients with narcolepsy include social stigma associated with this disease, difficulties in obtaining an education and keeping a job, a reduced quality of life and socioeconomic consequences. Two subtypes of narcolepsy have been described (narcolepsy type 1 and narcolepsy type 2), both of which have similar clinical profiles, except for the presence of cataplexy, which occurs only in patients with narcolepsy type 1. The pathogenesis of narcolepsy type 1 is hypothesized to be the autoimmune destruction of the hypocretin-producing neurons in the hypothalamus; this hypothesis is supported by immune-related genetic and environmental factors associated with the disease. However, direct evidence in support of the autoimmune hypothesis is currently unavailable. Diagnosis of narcolepsy encompasses clinical, electrophysiological and biological evaluations, but simpler and faster procedures are needed. Several medications are available for the symptomatic treatment of narcolepsy, all of which have quite good efficacy and safety profiles. However, to date, no treatment hinders or slows disease development. Improved diagnostic tools and increased understanding of the pathogenesis of narcolepsy type 1 are needed and might lead to therapeutic or even preventative interventions.
Molecular Sleep Laboratory, Department of Clinical Biochemistry, Rigshospitalet, Forskerparken, Nordre Ringvej 69, 2600 Glostrup, Denmark.|Danish Center for Sleep Medicine, Department of Clinical Neurophysiology, Rigshospitalet, Glostrup, Denmark.
Birgitte R
BR
Kornum
Norwegian Centre of Expertise for Neurodevelopmental Disorders and Hypersomnias, Oslo University Hospital, Oslo, Norway.
Stine
S
Knudsen
Department of Psychiatry and Behavioral Sciences, Center for Sleep Sciences, Stanford University, Stanford, California, USA.
Hanna M
HM
Ollila
Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.|IRCCS Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, AUSL di Bologna, Bologna, Italy.
Fabio
F
Pizza
Danish Center for Sleep Medicine, Department of Clinical Neurophysiology, Rigshospitalet, Glostrup, Denmark.
Poul J
PJ
Jennum
Sleep Unit, Narcolepsy Reference Center, Department of Neurology, Gui de Chauliac Hospital, INSERM 1061, Montpellier, France.
Yves
Y
Dauvilliers
Sleep Medicine Center Kempenhaeghe, Heeze, The Netherlands.|Department of Industrial Design, Eindhoven University of Technology, Eindhoven, The Netherlands.
Sebastiaan
S
Overeem
D000759:Adjuvants, Anesthesia / Q000494:pharmacology / Q000627:therapeutic use; D001559:Benzhydryl Compounds / Q000494:pharmacology / Q000627:therapeutic use; D015415:Biomarkers / Q000032:analysis; D002385:Cataplexy / Q000150:complications / Q000209:etiology; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D059866:HLA-DQ beta-Chains / Q000032:analysis; D006801:Humans; D000077408:Modafinil; D009290:Narcolepsy / Q000150:complications* / Q000453:epidemiology / Q000503:physiopathology*; D000068797:Orexins / Q000172:deficiency; D011788:Quality of Life / Q000523:psychology; D012307:Risk Factors; D000068760:Serotonin and Noradrenaline Reuptake Inhibitors / Q000494:pharmacology / Q000627:therapeutic use; D012893:Sleep Wake Disorders / Q000150:complications / Q000453:epidemiology; D012978:Sodium Oxybate / Q000494:pharmacology / Q000627:therapeutic use; D064690:Wakefulness-Promoting Agents / Q000494:pharmacology / Q000627:therapeutic use
D000759:Adjuvants, Anesthesia; D001559:Benzhydryl Compounds; D015415:Biomarkers; D059866:HLA-DQ beta-Chains; C069051:HLA-DQB1 antigen; D000068797:Orexins; D000068760:Serotonin and Noradrenaline Reuptake Inhibitors; D064690:Wakefulness-Promoting Agents; D012978:Sodium Oxybate; D000077408:Modafinil