title: [Narcolepsy: etiology, clinical features, diagnosis and treatment].
abstract: Narcolepsy is a chronic hypersomnia characterized by excessive daytime sleepiness (EDS) and manifestations of disrupted rapid eye movement sleep stage (cataplexy, sleep paralysis, and hypnagogic/hypnopompic hallucinations). Mechanisms underlying narcolepsy are not fully understood. Experimental data indicate that the disease is caused by a loss of hypocretin neurons in the hypothalamus, likely due to an autoimmune process triggered by environmental factors in susceptible individuals. Most patients with narcolepsy and cataplexy have very low hypocretin-1 levels in the cerebrospinal fluid. An appropriate clinical history, polysomnogram, and multiple sleep latency test are necessary for diagnosis of the disease. Additionally, two biological markers, i.e., cerebrospinal fluid hypocretin-1 levels and expression of the DQB1*0602 gene, are used. The treatment of narcolepsy is aimed at the different symptoms that the patient manifests. Excessive daytime sleepiness is treated with psychostimulants (amphetamine-like, modafinil and armodafinil). Cataplexy is treated with sodium oxybate (GHB), tricyclic antidepressants, or selective serotonin and noradrenaline reuptake inhibitors. Sleep paralysis, hallucinations, and fragmented sleep may be treated with sodium oxybate. Patients with narcolepsy should follow proper sleep hygiene and avoid strong emotions.
authors.affiliation: Zakład Farmakodynamiki Uniwersytetu Medycznego w Łodzi, ul. Muszyńskiego 1, 90-151 Łódź, Poland. jolanta.zawilska@umed.lodz.pl
authors.forename: Jolanta B
authors.initials: JB
authors.lastname: Zawilska
authors.forename: Agata
authors.initials: A
authors.lastname: Woldan-Tambor
authors.forename: Anna
authors.initials: A
authors.lastname: Płocka
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Kużajska
authors.forename: Jakub
authors.initials: J
authors.lastname: Wojcieszak
mesh_terms: D000929:Antidepressive Agents, Tricyclic / Q000627:therapeutic use; D015415:Biomarkers / Q000134:cerebrospinal fluid; D002385:Cataplexy / Q000175:diagnosis; D000697:Central Nervous System Stimulants / Q000627:therapeutic use*; D003937:Diagnosis, Differential; D059866:HLA-DQ beta-Chains / Q000235:genetics; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000134:cerebrospinal fluid; D009290:Narcolepsy / Q000134:cerebrospinal fluid / Q000175:diagnosis* / Q000188:drug therapy* / Q000209:etiology / Q000235:genetics; D009479:Neuropeptides / Q000134:cerebrospinal fluid; D000068797:Orexins; D012893:Sleep Wake Disorders / Q000175:diagnosis
chemical_list: D000929:Antidepressive Agents, Tricyclic; D015415:Biomarkers; D000697:Central Nervous System Stimulants; C000596229:HCRT protein, human; D059866:HLA-DQ beta-Chains; C069051:HLA-DQB1 antigen; D047908:Intracellular Signaling Peptides and Proteins; D009479:Neuropeptides; D000068797:Orexins