Journal ArticleDOI
Narcolepsy - clinical spectrum, aetiopathophysiology, diagnosis and treatment.
Claudio L. Bassetti,Antoine Roger Adamantidis,Denis Burdakov,Denis Burdakov,Denis Burdakov,Fang Han,Ulf Kallweit,Ramin Khatami,Frits Koning,Brigitte R. Kornum,Gert Jan Lammers,Roland S. Liblau,Pierre H. Luppi,Pierre H. Luppi,Geert Mayer,T. Pollmacher,Takeshi Sakurai,Federica Sallusto,Federica Sallusto,Thomas E. Scammell,Mehdi Tafti,Yves Dauvilliers,Yves Dauvilliers +22 more
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TLDR
Current understanding of how genetic, environmental and immune-related factors contribute to a prominent orexin signalling deficiency in patients with NT1 are focused on, along with uncertainties concerning the ‘narcoleptic borderland’, including narcolepsy type 2 (NT2).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.read more
Citations
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Narcolepsy as an autoimmune disease: the role of H1N1 infection and vaccination
Markku Partinen,Birgitte Rahbek Kornum,Giuseppe Plazzi,Poul Jennum,Ilkka Julkunen,Ilkka Julkunen,Outi Vaarala +6 more
TL;DR: In this paper, an H1N1 virus-derived antigen might be the trigger for narcolepsy, which is a sleep disorder characterized by loss of hypothalamic hypocretin (orexin) neurons and other risk genes such as T-cell-receptor α chain and purinergic receptor subtype 2Y11.
Journal ArticleDOI
Diagnosis of central disorders of hypersomnolence: A reappraisal by European experts.
Gert Jan Lammers,Claudio L. Bassetti,Leja Dolenc-Groselj,Poul Jennum,Ulf Kallweit,Ramin Khatami,Michel Lecendreux,Mauro Manconi,Geert Mayer,Markku Partinen,Giuseppe Plazzi,Paul Reading,Joan Santamaria,Karel Sonka,Yves Dauvilliers +14 more
TL;DR: The creation of a new consistent, complaint driven, hierarchical classification for central disorders of hypersomnolence is suggested; containing levels of certainty, and giving diagnostic tests, particularly the MSLT, a weighting based on its specificity and sensitivity in the diagnostic context.
Journal ArticleDOI
Sleep disorders and cancer: State of the art and future perspectives
TL;DR: The objective of this review is to assess the evidence highlighted in the research of the last ten years on the correlation between each specific category of sleep disorder according to the International Classification of Sleep Disorders 3rd Ed.
Journal ArticleDOI
Recent advances in treatment for narcolepsy.
Lucie Barateau,Yves Dauvilliers +1 more
TL;DR: Given the different clinical, biological and genetic profiles, narcolepsy may provide a nice example for developing personalized medicine in orphan diseases, that could ultimately aid in similar research and clinical efforts for other conditions.
Journal ArticleDOI
European guideline and expert statements on the management of narcolepsy in adults and children.
Claudio L. Bassetti,Ulf Kallweit,Luca Vignatelli,Giuseppe Plazzi,Michel Lecendreux,Elisa Baldin,Leja Dolenc-Groselj,Leja Dolenc-Groselj,Poul Jennum,Ramin Khatami,Mauro Manconi,Mauro Manconi,Geert Mayer,Markku Partinen,Thomas Pollmächer,Paul Reading,Joan Santamaria,Karel Sonka,Yves Dauvilliers,Gert J. Lammers +19 more
TL;DR: In this paper, the authors provide evidence-based guidelines for the management of narcolepsy in both adults and children, based on a systematic review of the literature (performed in 2018 and updated in July 2020).
References
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Journal ArticleDOI
Orexins and Orexin Receptors: A Family of Hypothalamic Neuropeptides and G Protein-Coupled Receptors that Regulate Feeding Behavior
Takeshi Sakurai,Akira Amemiya,Makoto Ishii,Ichiyo Matsuzaki,Richard M. Chemelli,Hirokazu Tanaka,S. Clay Williams,James A. Richardson,Gerald P. Kozlowski,Shelagh Wilson,Jonathan R.S. Arch,Robin E. Buckingham,Andrea C. Haynes,Steven A. Carr,Roland S. Annan,Dean E. McNulty,Wu Schyong Liu,Jonathan A. Terrett,Nabil Elshourbagy,Derk J. Bergsma,Masashi Yanagisawa +20 more
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