title: Hypocretin deficiency develops during onset of human narcolepsy with cataplexy.
abstract: OBJECTIVE
  Although hypothesized through animal studies, a temporal and causal association between hypocretin deficiency and the onset of narcolepsy with cataplexy (NC) has never been proven in humans.
  
  
  METHODS
  Paediatric Department, Blekinge Hospital, Sweden, and Danish Center for Sleep Medicine, Glostrup Hospital, Denmark.
  
  
  RESULTS
  Two weeks after his second Pandemrix-vaccination, a 10 year old HLA-DQB1*0602-positive boy developed NC. The CSF hypocretin-1 level was 10 pg/ml. However, CSF saved from a pre-narcolepsy episode of Lyme disease revealed a normal hypocretin-1 level (318 pg/ml).
  
  
  CONCLUSIONS
  We confirm that hypocretin deficiency develops in parallel to the onset of human narcolepsy with cataplexy.
authors.affiliation: Paediatric Department, Blekinge Hospital, Karlskrona, Sweden.
authors.forename: Andri
authors.initials: A
authors.lastname: Savvidou
authors.forename: Stine
authors.initials: S
authors.lastname: Knudsen
authors.forename: Mia
authors.initials: M
authors.lastname: Olsson-Engman
authors.forename: Steen
authors.initials: S
authors.lastname: Gammeltoft
authors.forename: Poul
authors.initials: P
authors.lastname: Jennum
authors.forename: Lars
authors.initials: L
authors.lastname: Palm
mesh_terms: D015415:Biomarkers / Q000134:cerebrospinal fluid; D002385:Cataplexy / Q000134:cerebrospinal fluid* / Q000150:complications* / Q000378:metabolism*; D002648:Child; D003937:Diagnosis, Differential; D006801:Humans; D007027:Hypothalamic Diseases / Q000134:cerebrospinal fluid / Q000150:complications* / Q000175:diagnosis; D047908:Intracellular Signaling Peptides and Proteins / Q000134:cerebrospinal fluid / Q000172:deficiency*; D008297:Male; D009290:Narcolepsy / Q000134:cerebrospinal fluid* / Q000150:complications* / Q000175:diagnosis; D009479:Neuropeptides / Q000134:cerebrospinal fluid / Q000172:deficiency*; D000068797:Orexins; D017286:Polysomnography / Q000379:methods; D013548:Sweden
chemical_list: D015415:Biomarkers; C000596229:HCRT protein, human; D047908:Intracellular Signaling Peptides and Proteins; D009479:Neuropeptides; D000068797:Orexins