Narcolepsy: clinical features, new pathophysiologic insights, and future perspectives

J Clin Neurophysiol. 2001 Mar;18(2):78-105. doi: 10.1097/00004691-200103000-00002.


Narcolepsy is characterized by excessive daytime sleepiness and abnormal manifestations of rapid eye movement sleep such as cataplexy. The authors review the clinical features of narcolepsy, including epidemiology, symptoms, diagnosis, and treatment, in detail. Recent findings show that a loss of hypocretin-producing neurons lies at the root of the signs and symptoms of narcolepsy. The authors review the current state of knowledge on hypocretin anatomy, physiology, and function with special emphasis on the research regarding the hypocretin deficiency in narcolepsy, which may also explain associated features of the disorder, such as obesity. Lastly, they discuss some future perspectives for research into the pathophysiology of sleep/wake disorders, and the potential impact of the established hypocretin deficiency on the diagnosis and treatment of narcolepsy.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Age of Onset
  • Animals
  • Carrier Proteins / genetics
  • Carrier Proteins / metabolism
  • Cataplexy / diagnosis
  • Cataplexy / physiopathology
  • Diagnosis, Differential
  • Disease Models, Animal
  • Disorders of Excessive Somnolence / diagnosis
  • Disorders of Excessive Somnolence / physiopathology
  • Dogs
  • Fatigue / etiology
  • Female
  • Hallucinations / diagnosis
  • Hallucinations / physiopathology
  • Humans
  • Intracellular Signaling Peptides and Proteins*
  • Male
  • Mice
  • Narcolepsy / diagnosis*
  • Narcolepsy / etiology
  • Narcolepsy / physiopathology*
  • Neuropeptides / genetics
  • Neuropeptides / metabolism
  • Orexins
  • Polysomnography
  • Prevalence
  • Sleep Apnea Syndromes / diagnosis
  • Sleep Initiation and Maintenance Disorders / diagnosis
  • Sleep Initiation and Maintenance Disorders / physiopathology
  • Sleep Paralysis / diagnosis
  • Sleep Paralysis / physiopathology


  • Carrier Proteins
  • Intracellular Signaling Peptides and Proteins
  • Neuropeptides
  • Orexins