Narcolepsy
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Narcolepsy. / Kornum, Birgitte R; Knudsen, Stine; Ollila, Hanna M; Pizza, Fabio; Jennum, Poul J; Dauvilliers, Yves; Overeem, Sebastiaan.
In: Nature Reviews. Disease Primers, Vol. 3, 16100, 2017.Research output: Contribution to journal › Review › Research › peer-review
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TY - JOUR
T1 - Narcolepsy
AU - Kornum, Birgitte R
AU - Knudsen, Stine
AU - Ollila, Hanna M
AU - Pizza, Fabio
AU - Jennum, Poul J
AU - Dauvilliers, Yves
AU - Overeem, Sebastiaan
PY - 2017
Y1 - 2017
N2 - 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.
AB - 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.
U2 - 10.1038/nrdp.2016.100
DO - 10.1038/nrdp.2016.100
M3 - Review
C2 - 28179647
VL - 3
JO - Nature Reviews. Disease Primers
JF - Nature Reviews. Disease Primers
SN - 2056-676X
M1 - 16100
ER -
ID: 196134598