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.


CONCLUSIONS
Abnormal hypocretin neurotransmission is found in familial, as well as sporadic, narcolepsy.
Sleep Disorders Center, Forrest General Hospital, Hattiesburg, MS, USA.
G
G
Hartwig
J
J
Harsh
B
B
Ripley
S
S
Nishino
E
E
Mignot