Traditional biomarkers in narcolepsy: experience of a Brazilian sleep centre.
This study was thought to characterized clinical and laboratory findings of a narcoleptic patients in an out patients unit at São Paulo, Brazil.


METHODS
28 patients underwent polysomnographic recordings (PSG) and Multiple Sleep Latency Test (MSLT) were analyzed according to standard criteria. The analysis of HLADQB1*0602 allele was performed by PCR. The Hypocretin-1 in cerebral spinal fluid (CSF) was measured using radioimmunoassay. Patients were divided in two groups according Hypocretin-1 level: Normal (N) - Hypocretin-1 higher than 110 pg/ml and Lower (L) Hypocretin-1 lower than 110 pg/ml.


RESULTS
Only 4 patients of the N group had cataplexy when compared with 14 members of the L group (p = 0.0002).


CONCLUSIONS
This results were comparable with other authors, confirming the utility of using specific biomarkers (HLA-DQB1*0602 allele and Hypocretin-1 CSF level) in narcolepsy with cataplexy. However, the HLADQB1*0602 allele and Hypocretin-1 level are insufficient to diagnose of narcolepsy without cataplexy.
Departamento de Psicobiologia, Universidade Federal de São Paulo, São Paulo, SP, Brazil. fernandomorgadinho@hotmail.com
Fernando Morgadinho Santos
FM
Coelho
Márcia
M
Pradella-Hallinan
Mario
M
Pedrazzoli
Carlos Augusto Senne
CA
Soares
Gustavo Bruniera Peres
GB
Fernandes
André Leite
AL
Gonçalves
Sergio
S
Tufik
Lia Rita Azeredo
LR
Bittencourt
D000328:Adult; D000368:Aged; D000483:Alleles; D015415:Biomarkers; D002385:Cataplexy / Q000134:cerebrospinal fluid / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006683:HLA-DQ Antigens / Q000235:genetics*; D059866:HLA-DQ beta-Chains; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000134:cerebrospinal fluid*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D009290:Narcolepsy / Q000134:cerebrospinal fluid / Q000175:diagnosis* / Q000235:genetics; D009479:Neuropeptides / Q000134:cerebrospinal fluid*; D000068797:Orexins; D016133:Polymerase Chain Reaction; D017286:Polysomnography; D011863:Radioimmunoassay
D015415:Biomarkers; 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