Undetectable levels of CSF hypocretin-1 (orexin-A) in two prepubertal boys with narcolepsy

被引:17
作者
Tsukamoto, H
Ishikawa, T
Fujii, Y
Fukumizu, M
Sugai, K
Kanbayashi, T
机构
[1] Nagoya City Univ, Sch Med, Dept Pediat, Mizuho Ku, Nagoya, Aichi 4678601, Japan
[2] Natl Ctr Hosp Mental Nervous & Muscular Disorders, Natl Ctr Neurol & Psychiat, Dept Pediat Neurol, Kodaira, Tokyo, Japan
[3] Akita Univ, Sch Med, Dept Neuropsychiat, Akita 010, Japan
关键词
narcolepsy; cataplexy; hypocretin (orexin); human leukocyte antigen; child; sleep disorder;
D O I
10.1055/s-2002-23601
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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.
引用
收藏
页码:51 / 52
页数:2
相关论文
共 9 条
[1]   Narcolepsy in orexin knockout mice:: Molecular genetics of sleep regulation [J].
Chemelli, RM ;
Willie, JT ;
Sinton, CM ;
Elmquist, JK ;
Scammell, T ;
Lee, C ;
Richardson, JA ;
Williams, SC ;
Xiong, YM ;
Kisanuki, Y ;
Fitch, TE ;
Nakazato, M ;
Hammer, RE ;
Saper, CB ;
Yanagisawa, M .
CELL, 1999, 98 (04) :437-451
[2]  
Kanbayashi T, 2001, SLEEP, V24, pA330
[3]   The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene [J].
Lin, L ;
Faraco, J ;
Li, R ;
Kadotani, H ;
Rogers, W ;
Lin, XY ;
Qiu, XH ;
de Jong, PJ ;
Nishino, S ;
Mignot, E .
CELL, 1999, 98 (03) :365-376
[4]   Low cerebrospinal fluid hypocretin (orexin) and altered energy homeostasis in human narcolepsy [J].
Nishino, S ;
Ripley, B ;
Overeem, S ;
Nevsimalova, S ;
Lammers, GJ ;
Vankova, J ;
Okun, M ;
Rogers, W ;
Brooks, S ;
Mignot, E .
ANNALS OF NEUROLOGY, 2001, 50 (03) :381-388
[5]   Hypocretin (orexin) deficiency in human narcolepsy [J].
Nishino, S ;
Ripley, B ;
Overeem, S ;
Lammers, GJ ;
Mignot, E .
LANCET, 2000, 355 (9197) :39-40
[6]   A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains [J].
Peyron, C ;
Faraco, J ;
Rogers, W ;
Ripley, B ;
Overeem, S ;
Charnay, Y ;
Nevsimalova, S ;
Aldrich, M ;
Reynolds, D ;
Albin, R ;
Li, R ;
Hungs, M ;
Pedrazzoli, M ;
Padigaru, M ;
Kucherlapati, M ;
Fan, J ;
Maki, R ;
Lammers, GJ ;
Bouras, C ;
Kucherlapati, R ;
Nishino, S ;
Mignot, E .
NATURE MEDICINE, 2000, 6 (09) :991-997
[7]   Reduced number of hypocretin neurons in human narcolepsy [J].
Thannickal, TC ;
Moore, RY ;
Nienhuis, R ;
Ramanathan, L ;
Gulyani, S ;
Aldrich, M ;
Cornford, M ;
Siegel, JM .
NEURON, 2000, 27 (03) :469-474
[8]   Childhood narcolepsy [J].
Wise, MS .
NEUROLOGY, 1998, 50 (02) :S37-S42
[9]  
YOSS R E, 1960, Pediatrics, V25, P1025