CSF hypocretin-1 (orexin-A) concentrations in narcolepsy with and without cataplexy and idiopathic hypersomnia.
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.
Kanbayashi
Takashi
T
Department of Neuropsychiatry, Akita University School of Medicine, Hondo, Akita, Japan.takashik@psy.med.akita-u.ac.jp
Inoue
Yuichi
Y
Chiba
Shigeru
S
Aizawa
Rika
R
Saito
Yasushi
Y
Tsukamoto
Haruko
H
Fujii
Yukiharu
Y
Nishino
Seiji
S
Shimizu
Tetsuo
T
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
D002352:Carrier Proteins; C000596229:HCRT protein, human; D047908:Intracellular Signaling Peptides and Proteins; D009479:Neuropeptides; D000068797:Orexins