title: [Diagnostic and therapeutic update in narcolepsy].
abstract: Narcolepsy is an emblematic, unique disease within sleep disorders that is characterised by excessive daytime sleepiness, cataplexy and other abnormal manifestations of REM sleep. In the last 14 years truly spectacular progress has been made in our knowledge of this disease, since the discovery of its cause, i.e. a loss of the hypothalamic neurons that synthesise hypocretin, a previously unknown neurotransmitter, and its probable aetiopathogenic mechanisms, i.e. an autoimmune process in a patient with very precise immunological characteristics - a specific type of HLA and a specific type of T-cell receptor. The cause of this autoimmune process remains unknown. The definitive treatment - the administration of hypocretin, which is the substance missing in the organism - is still unavailable, but there are powerful drugs for treating its main symptoms, the sleepiness and the cataplexy. Some of these are classic compounds (methylphenidate, clomipramine), while others are more recent (modafinil, venlafaxine, sodium oxybate), but together they allow many patients to experience significant improvements. Lack of knowledge about the disease, both on the part of patients and their relatives as well as physicians, is the reason for the great delay in its diagnosis, with even more dramatic consequences when the disease begins in infancy.
authors.affiliation: Servicio de Neurología, Unidad Multidisciplinar de Trastornos del Sueño, Hospital Clinic de Barcelona, Villaroel 170, Barcelona, Spain. jsantama@clinic.ub.es
authors.forename: Joan
authors.initials: J
authors.lastname: Santamaria-Cano
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000818:Animals; D001327:Autoimmune Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology / Q000235:genetics / Q000276:immunology; D001559:Benzhydryl Compounds / Q000627:therapeutic use; D002385:Cataplexy / Q000188:drug therapy / Q000209:etiology; D002648:Child; D002997:Clomipramine / Q000627:therapeutic use; D003511:Cyclohexanols / Q000627:therapeutic use; D057210:Delayed Diagnosis; D004195:Disease Models, Animal; D004285:Dogs; D020022:Genetic Predisposition to Disease; D006683:HLA-DQ Antigens / Q000235:genetics; D059866:HLA-DQ beta-Chains / Q000235:genetics; D017442:Histamine Agonists / Q000627:therapeutic use; D006801:Humans; D007031:Hypothalamus / Q000378:metabolism / Q000473:pathology; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D047908:Intracellular Signaling Peptides and Proteins / Q000172:deficiency / Q000378:metabolism; D008774:Methylphenidate / Q000627:therapeutic use; D000077408:Modafinil; D009290:Narcolepsy / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy* / Q000453:epidemiology / Q000235:genetics / Q000276:immunology / Q000473:pathology; D009479:Neuropeptides / Q000172:deficiency / Q000378:metabolism; D000068797:Orexins; D017286:Polysomnography; D011948:Receptors, Antigen, T-Cell / Q000235:genetics; D012978:Sodium Oxybate / Q000627:therapeutic use; D000069470:Venlafaxine Hydrochloride
chemical_list: D001559:Benzhydryl Compounds; D003511:Cyclohexanols; D006683:HLA-DQ Antigens; D059866:HLA-DQ beta-Chains; C069051:HLA-DQB1 antigen; D017442:Histamine Agonists; D016756:Immunoglobulins, Intravenous; D047908:Intracellular Signaling Peptides and Proteins; D009479:Neuropeptides; D000068797:Orexins; D011948:Receptors, Antigen, T-Cell; D008774:Methylphenidate; D000069470:Venlafaxine Hydrochloride; D012978:Sodium Oxybate; D002997:Clomipramine; D000077408:Modafinil