Subscribe to RSS
DOI: 10.1055/s-2002-23601
Georg Thieme Verlag Stuttgart · New York
Undetectable Levels of CSF Hypocretin-1 (Orexin-A) in Two Prepubertal Boys with Narcolepsy
Publication History
Publication Date:
03 April 2002 (online)

Abstract
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.
Key words
Narcolepsy - Cataplexy - Hypocretin (Orexin) - Human leukocyte antigen - Child - Sleep disorder
References
- 1 Chemelli R M, Willie J T, Sinton C M, Elmquist J K, Scammell T, Lee C. et al . Narcolepsy in orexin knockout mice: molecular genetics of sleep regulation. Cell. 1999; 98 437-451
- 2 Kanbayashi T, Yano T, Ishiguro H, Aizawa R, Sawaishi Y, Watanabe A. et al . Hypocretin (orexin) levels in human lumbar CSF in different age groups. Sleep. 2001; 24 A330
- 3 Lin L, Faraco J, Li R, Kadotani H, Rogers W, Lin X. et al . The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene. Cell. 1999; 98 365-376
- 4 Nishino S, Ripley B, Overeem S, Lammers G J, Mignot E. Hypocretin (orexin) deficiency in human narcolepsy. Lancet. 2000; 355 39-40
- 5 Nishino S, Ripley B, Overeem S, Nevsimalova S, Lammers G J, Vankova J. et al . Low cerebrospinal fluid hypocretin (orexin) and altered energy homeostasis in human narcolepsy. Ann Neurol. 2001; 50 381-388
- 6 Peyron C, Faraco J, Rogers W, Ripley B, Overeem S, Charnay Y. et al . A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains. Nature Medicine. 2000; 6 991-997
- 7 Thannickal T C, Nienhuis R, Ramanathan L, Corbford M, Siegel J M. Reduced number of hypocretin neurons in human narcolepsy. Neuron. 2000; 27 469-474
- 8 Wise M S. Childhood narcolepsy. Neurology. 1998; 50 37-42
- 9 Yoss R E, Daly D D. Narcolepsy in children. Pediatrics. 1960; 25 1025-1033
M.D. Haruko Tsukamoto
Department of Pediatrics, Nagoya City University Medical School
Kawasumi, Mizuho-cho, Mizuho-ku
Nagoya 467 - 8601
Japan
Email: Harukot@aol.com