Monozygotic twins concordant for narcolepsy-cataplexy without any detectable abnormality in the hypocretin (orexin) pathway.
Narcolepsy with cataplexy is thought to be a hypocretin ligand or hypocretin receptor deficiency syndrome caused by genetic and environmental factors. We looked for an abnormality of the hypocretin pathway in HLA-DQB1*0602-positive monozygotic twins who were concordant for narcolepsy-cataplexy. They had normal cerebrospinal fluid concentrations of hypocretin-1, and we found no mutation in the prepro-hypocretin gene or either hypocretin receptor gene. Our finding points to the existence of presumably genetic forms of narcolepsy with cataplexy without any demonstrable defect in the hypocretin pathway.
Khatami
Ramin
R
Neurology Department, University Hospital, CH 8091, Zurich, Switzerland.
Maret
Stéphanie
S
Werth
Esther
E
Rétey
Julia
J
Schmid
Dagmar
D
Maly
Friedrich
F
Tafti
Mehdi
M
Bassetti
Claudio L
CL
D000328:Adult; D002352:Carrier Proteins / Q000134:cerebrospinal fluid*; D004200:Diseases in Twins; D005260:Female; D006683:HLA-DQ Antigens / Q000032:analysis; D059866:HLA-DQ beta-Chains; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins / Q000032:analysis; D009290:Narcolepsy / Q000134:cerebrospinal fluid / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D009479:Neuropeptides / Q000134:cerebrospinal fluid* / Q000172:deficiency; D000068797:Orexins; D017286:Polysomnography; D014430:Twins, Monozygotic
D002352:Carrier Proteins; 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