Narcolepsy - clinical spectrum, aetiopathophysiology, diagnosis and treatment - PubMed (original) (raw)
Review
. 2019 Sep;15(9):519-539.
doi: 10.1038/s41582-019-0226-9. Epub 2019 Jul 19.
Antoine Adamantidis 2, Denis Burdakov 3 4 5, Fang Han 6, Steffen Gay 7, Ulf Kallweit 2 8, Ramin Khatami 2 9, Frits Koning 10, Brigitte R Kornum 11, Gert Jan Lammers 12 13, Roland S Liblau 14, Pierre H Luppi 15 16, Geert Mayer 17, Thomas Pollmächer 18, Takeshi Sakurai 19, Federica Sallusto 20 21, Thomas E Scammell 22, Mehdi Tafti 23 24, Yves Dauvilliers 25 26 27
Affiliations
- PMID: 31324898
- DOI: 10.1038/s41582-019-0226-9
Review
Narcolepsy - clinical spectrum, aetiopathophysiology, diagnosis and treatment
Claudio L A Bassetti et al. Nat Rev Neurol. 2019 Sep.
Abstract
Narcolepsy is a rare brain disorder that reflects a selective loss or dysfunction of orexin (also known as hypocretin) neurons of the lateral hypothalamus. Narcolepsy type 1 (NT1) is characterized by excessive daytime sleepiness and cataplexy, accompanied by sleep-wake symptoms, such as hallucinations, sleep paralysis and disturbed sleep. Diagnosis is based on these clinical features and supported by biomarkers: evidence of rapid eye movement sleep periods soon after sleep onset; cerebrospinal fluid orexin deficiency; and positivity for HLA-DQB1*06:02. Symptomatic treatment with stimulant and anticataplectic drugs is usually efficacious. This Review focuses on our current understanding of how genetic, environmental and immune-related factors contribute to a prominent (but not isolated) orexin signalling deficiency in patients with NT1. Data supporting the view of NT1 as a hypothalamic disorder affecting not only sleep-wake but also motor, psychiatric, emotional, cognitive, metabolic and autonomic functions are presented, along with uncertainties concerning the 'narcoleptic borderland', including narcolepsy type 2 (NT2). The limitations of current diagnostic criteria for narcolepsy are discussed, and a possible new classification system incorporating the borderland conditions is presented. Finally, advances and obstacles in the symptomatic and causal treatment of narcolepsy are reviewed.
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