Hypocretin deficiency develops during onset of human narcolepsy with cataplexy

Sleep. 2013 Jan 1;36(1):147-8. doi: 10.5665/sleep.2320.

Abstract

Study objectives: 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.

Setting: Paediatric Department, Blekinge Hospital, Sweden, and Danish Center for Sleep Medicine, Glostrup Hospital, Denmark.

Patient and 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.

Publication types

  • Case Reports

MeSH terms

  • Biomarkers / cerebrospinal fluid
  • Cataplexy / cerebrospinal fluid*
  • Cataplexy / complications*
  • Cataplexy / metabolism*
  • Child
  • Diagnosis, Differential
  • Humans
  • Hypothalamic Diseases / cerebrospinal fluid
  • Hypothalamic Diseases / complications*
  • Hypothalamic Diseases / diagnosis
  • Intracellular Signaling Peptides and Proteins / cerebrospinal fluid
  • Intracellular Signaling Peptides and Proteins / deficiency*
  • Male
  • Narcolepsy / cerebrospinal fluid*
  • Narcolepsy / complications*
  • Narcolepsy / diagnosis
  • Neuropeptides / cerebrospinal fluid
  • Neuropeptides / deficiency*
  • Orexins
  • Polysomnography / methods
  • Sweden

Substances

  • Biomarkers
  • HCRT protein, human
  • Intracellular Signaling Peptides and Proteins
  • Neuropeptides
  • Orexins