Low cerebrospinal fluid hypocretin levels found in familial narcolepsy

被引:10
作者
Hartwig, Geoffrey [1 ]
Harsh, John [1 ,2 ]
Ripley, Beth [3 ]
Nishino, Seiji [3 ]
Mignot, Emmanuel [3 ]
机构
[1] Forrest Gen Hosp, Sleep Disorders Ctr, Hattiesburg, MS 39404 USA
[2] Univ So Mississippi, Dept Psychol, Hattiesburg, MS 39406 USA
[3] Stanford Univ, Ctr Narcolepsy, Dept Psychiat & Behav Sci, Stanford, CA 94305 USA
关键词
Narcolepsy; Cataplexy; Families; Hypocretin; Genetic; Human Leukocyte Antigen (HLA);
D O I
10.1016/S1389-9457(01)00077-6
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Objective: This report describes abnormal hypocretin neurotransmission in a case of familial narcolepsy. Background: Narcolepsy is a chronic, often-disabling central nervous system disorder characterized by excessive daytime sleepiness and abnormal rapid eye movement (REM) sleep features including cataplexy, a loss of muscle tone triggered by emotion. The cause of human narcolepsy is unknown. Several familial cases have been described, but most cases are sporadic (95%). An abnormality of hypocretin neurotransmission has been found in a majority of sporadic cases. Methods: Hypocretin-1 levels were measured in the cerebrospinal fluid of the narcoleptic proband of a family with several affected members. Results: The proband was found to have a hypocretin-1 deficiency. Conclusion: Abnormal hypocretin neurotransmission is found in familial, as well as sporadic, narcolepsy. (C) 2001 Elsevier Science B.V. All rights reserved.
引用
收藏
页码:451 / 453
页数:3
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