Low Cerebrospinal Fluid Hypocretin Levels Found in Familial Narcolepsy
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.
Harsh, J. R.,
(2001). Low Cerebrospinal Fluid Hypocretin Levels Found in Familial Narcolepsy. Sleep Medicine, 2(5), 451-453.
Available at: http://aquila.usm.edu/fac_pubs/3794