Low cerebrospinal fluid hypocretin levels found in familial narcolepsy
被引:10
作者:
Hartwig, Geoffrey
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机构:
Forrest Gen Hosp, Sleep Disorders Ctr, Hattiesburg, MS 39404 USAForrest Gen Hosp, Sleep Disorders Ctr, Hattiesburg, MS 39404 USA
Hartwig, Geoffrey
[1
]
Harsh, John
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机构:
Forrest Gen Hosp, Sleep Disorders Ctr, Hattiesburg, MS 39404 USA
Univ So Mississippi, Dept Psychol, Hattiesburg, MS 39406 USAForrest Gen Hosp, Sleep Disorders Ctr, Hattiesburg, MS 39404 USA
Harsh, John
[1
,2
]
Ripley, Beth
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机构:
Stanford Univ, Ctr Narcolepsy, Dept Psychiat & Behav Sci, Stanford, CA 94305 USAForrest Gen Hosp, Sleep Disorders Ctr, Hattiesburg, MS 39404 USA
Ripley, Beth
[3
]
Nishino, Seiji
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机构:
Stanford Univ, Ctr Narcolepsy, Dept Psychiat & Behav Sci, Stanford, CA 94305 USAForrest Gen Hosp, Sleep Disorders Ctr, Hattiesburg, MS 39404 USA
Nishino, Seiji
[3
]
Mignot, Emmanuel
论文数: 0引用数: 0
h-index: 0
机构:
Stanford Univ, Ctr Narcolepsy, Dept Psychiat & Behav Sci, Stanford, CA 94305 USAForrest Gen Hosp, Sleep Disorders Ctr, Hattiesburg, MS 39404 USA
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
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.