title: [Hypocretin (orexin) deficiency in narcolepsy-cataplexy].
abstract: A mutation in the HCRT locus was proved in 18-yrs old male suffering from narcolepsy-cataplexy. He has demonstrated cataplectic attacks (brief spells of head dropping provoked by laughter) as well as imperative sleep in spells of several minutes up to one hour since the age of six months. He has suffered from severe bulimia since five years; later hypnagogic hallucinations, sleep paralysis and unquiet nocturnal sleep accompanied by periodic limb movements appeared. Symptoms are partially controlled with methylphenidate and either imipramine, clomipramine or fluoxetine. Periodic leg movements poorly responded to L-DOPA and clonazepam treatment. He is HLA-DQB1*0602 negative. Repeated MSLT (over 16 years followed-up period) showed extremely short latency with predominant SOREMPs and also nocturnal PSG recordings revealed fragmented sleep with SOREMPs. This case report demonstrates that hypocretin (orexin) mutations in human can produce the full narcolepsy phenotype and validates data recently reported in dog and mouse models suggesting a role for hypocretin (orexin) in the pathophysiology of narcolepsy and the regulation of REM sleep.
authors.affiliation: Neurologická klinika 1. lékarské fakulty, Univerzity Karlovy a Vseobecné fakultní nemocnice, Katerinská 30, 120 00 Praha 2, Czech Republic. snevsi@lf1.cuni.cz
authors.forename: S
authors.initials: S
authors.lastname: Nevsímalová
authors.forename: J
authors.initials: J
authors.lastname: Vanková
authors.forename: K
authors.initials: K
authors.lastname: Sonka
authors.forename: J
authors.initials: J
authors.lastname: Faraco
authors.forename: W
authors.initials: W
authors.lastname: Rogers
authors.forename: S
authors.initials: S
authors.lastname: Overeem
authors.forename: E
authors.initials: E
authors.lastname: Mignot
mesh_terms: D000293:Adolescent; D002352:Carrier Proteins / Q000134:cerebrospinal fluid; D002385:Cataplexy / Q000188:drug therapy / Q000378:metabolism; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D009290:Narcolepsy / Q000188:drug therapy / Q000378:metabolism*; D009479:Neuropeptides / Q000134:cerebrospinal fluid / Q000172:deficiency*; D018377:Neurotransmitter Agents / Q000134:cerebrospinal fluid / Q000172:deficiency*; D000068797:Orexins
chemical_list: D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; D009479:Neuropeptides; D018377:Neurotransmitter Agents; D000068797:Orexins