Undetectable levels of CSF hypocretin-1 (orexin-A) in two prepubertal boys with narcolepsy.
We report on two prepubertal narcoleptic boys with undetectable levels of hypocretin-1 (orexin-A) in their cerebrospinal fluid (CSF). The disease onset times were 6 and 8 years, and CSF was collected 8 and 20 months after the onset, respectively. The initial symptoms were excessive daytime sleepiness, cataplexy and disrupted nocturnal sleep. Both subjects are DRB1*1501 and DQB1*0602 positive. The measurement of CSF hypocretin-1 is valuable for the decisive diagnosis of narcolepsy and for selecting the type of treatment in prepubertal children. Our results suggest that a significant degree of hypocretin deficiency is already present at the disease onset.
Tsukamoto
H
H
Department of Pediatrics, Nagoya City University Medical School, Nagoya, Japan. Harukot@aol.com
Ishikawa
T
T
Fujii
Y
Y
Fukumizu
M
M
Sugai
K
K
Kanbayashi
T
T
D000367:Age Factors; D002352:Carrier Proteins / Q000134:cerebrospinal fluid*; D002648:Child; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; 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