title: CSF hypocretin-1 (orexin-A) concentrations in narcolepsy with and without cataplexy and idiopathic hypersomnia.
abstract: We measured cerebrospinal fluid (CSF) hypocretin-1 levels in 11 patients with narcolepsy-cataplexy, five with narcolepsy without cataplexy and 12 with idiopathic hypersomnia (IHS). All patients were Japanese. As reported in Caucasian patients, undetectable or very low hypocretin-1 levels were observed in most (9 out of 11) Japanese narcolepsy--cataplexy patients. Our hypocretin-deficient narcoleptics included three prepubertal cases within few months after the disease onset. All nine hypocretin-deficient patients were human leuckocyte antigen (HLA) DR2 positive, while two who had normal CSF hypocretin-1 levels were HLA DR2 negative. In contrast, none of the narcolepsy without cataplexy and IHS subjects had undetectable low levels. Low CSF hypocretin-1 is therefore very specific for HLA DR2 positive narcolepsy-cataplexy, and the deficiency is likely to be established at the early stage of the disease.
authors.affiliation: Department of Neuropsychiatry, Akita University School of Medicine, Hondo, Akita, Japan.takashik@psy.med.akita-u.ac.jp
authors.forename: Takashi
authors.initials: T
authors.lastname: Kanbayashi
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Inoue
authors.forename: Shigeru
authors.initials: S
authors.lastname: Chiba
authors.forename: Rika
authors.initials: R
authors.lastname: Aizawa
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Saito
authors.forename: Haruko
authors.initials: H
authors.lastname: Tsukamoto
authors.forename: Yukiharu
authors.initials: Y
authors.lastname: Fujii
authors.forename: Seiji
authors.initials: S
authors.lastname: Nishino
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Shimizu
mesh_terms: D000328:Adult; D000368:Aged; D002352:Carrier Proteins / Q000134:cerebrospinal fluid*; D002648:Child; D005260:Female; D006801:Humans; D020177:Idiopathic Hypersomnia / Q000134:cerebrospinal fluid*; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008875:Middle Aged; D009290:Narcolepsy / Q000134:cerebrospinal fluid*; D009479:Neuropeptides / Q000134:cerebrospinal fluid*; D000068797:Orexins
chemical_list: D002352:Carrier Proteins; C000596229:HCRT protein, human; D047908:Intracellular Signaling Peptides and Proteins; D009479:Neuropeptides; D000068797:Orexins