CSF hypocretin-1 levels and clinical profiles in narcolepsy and idiopathic CNS hypersomnia in Norway.
OBJECTIVE
To evaluate the relationship between CSF hypocretin-1 levels and clinical profiles in narcolepsy and CNS hypersomnia in Norwegian patients.


METHODS
CSF hypocretin-1 was measured by a sensitive radioimmunoassay in 47 patients with narcolepsy with cataplexy, 7 with narcolepsy without cataplexy, 10 with idiopathic CNS hypersomnia, and a control group.


RESULTS
Low hypocretin-1 values were found in 72% of the HLA DQB1*0602 positive patients with narcolepsy and cataplexy. Patients with low CSF hypocretin-1 levels reported more extensive muscular involvement during cataplectic attacks than patients with normal levels. Hypnagogic hallucinations and sleep paralysis occurred more frequently in patients with cataplexy than in the other patient groups, but with no correlation to hypocretin-1 levels.


CONCLUSIONS
About three quarters of the HLA DQB1*0602 positive patients with narcolepsy and cataplexy had low CSF hypocretin-1 values, and appear to form a distinct clinical entity. Narcolepsy without cataplexy could not be distinguished from idiopathic CNS hypersomnia by clinical symptoms or biochemical findings.
Heier
Mona Skard
MS
Department of Neurology, Ullevål University Hospital, Oslo, Norway. msheier@online.no
Evsiukova
Tatiana
T
Vilming
Steinar
S
Gjerstad
Michaela D
MD
Schrader
Harald
H
Gautvik
Kaare
K
D000293:Adolescent; D000328:Adult; D000368:Aged; D002385:Cataplexy / Q000134:cerebrospinal fluid* / Q000175:diagnosis / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006683:HLA-DQ Antigens / Q000235:genetics; D059866:HLA-DQ beta-Chains; D006212:Hallucinations / Q000134:cerebrospinal fluid / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D020177:Idiopathic Hypersomnia / Q000134:cerebrospinal fluid* / Q000175:diagnosis / Q000235:genetics; D047908:Intracellular Signaling Peptides and Proteins / Q000134:cerebrospinal fluid* / Q000235:genetics; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D009290:Narcolepsy / Q000134:cerebrospinal fluid* / Q000175:diagnosis / Q000235:genetics; D009479:Neuropeptides / Q000134:cerebrospinal fluid* / Q000235:genetics; D000068797:Orexins; D011863:Radioimmunoassay; D012016:Reference Values; D012307:Risk Factors; D020188:Sleep Paralysis / Q000134:cerebrospinal fluid / Q000175:diagnosis / Q000235:genetics
C000596229:HCRT protein, human; D006683:HLA-DQ Antigens; D059866:HLA-DQ beta-Chains; C069051:HLA-DQB1 antigen; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; D009479:Neuropeptides; D000068797:Orexins
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