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This report describes abnormal hypocretin neurotransmission in a case of familial narcolepsy.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.Hypocretin-1 levels were measured in the cerebrospinal fluid of the narcoleptic proband of a family with several affected members.The proband was found to have a hypocretin-1 deficiency.Abnormal hypocretin neurotransmission is found in familial, as well as sporadic, narcolepsy.
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