M. Zarowski, T. Ali-Dinar, S. V. Kothare

Research output: Contribution to journalReview articlepeer-review

1 Scopus citations


Narcolepsy is a life-long neurological, rapid eye movement (REM) sleep disorder characterized by excessive daytime sleepiness, REM intrusions in wakefulness and sleep, and abnormal sleep-wake cycle regulation. Additional symptoms include sleep maintenance insomnia, REM sleep behavior disorders, obstructive sleep apnea, periodic limb movement, weight gain, migraines, and depression. Narcolepsy is not an uncommon disorder, but is underrecognized. It has an estimated prevalence of 0.05%. The age of onset shows two peaks of presentation: in childhood and in adults. Both genetics and environmental factors may be involved in the development of narcolepsy. The history, combined with polysomnography and Multiple Sleep Latency Test, remain the current gold standard in the diagnosis of narcolepsy. Human leukocyte antigen (HLA) typing shows an association with HLA DQB1*0602 in more than 92% of cases. The levels of Hypocretin-1 are undetectable in the cerebrospinal fluid in most patients with narcolepsy with cataplexy. It is highly specific (99.1%) and sensitive (88.5%) for narcolepsy with cataplexy but can also be positive in the normal population (25-30%). Early recognition and treatment can greatly improve the quality of life of patients with narcolepsy. Treatment of narcolepsy includes non-pharmacological (life style changes) and pharmacological (stimulants, modafinil, sodium oxybate) treatment against hypersomnia and anti-cataplectic drugs (antidepressants and sodium oxybate). A detail review of the epidemiology, pathophysiology, clinical features, diagnostic evaluations and management of narcolepsy is presented.

Original languageEnglish (US)
Pages (from-to)345-375
Number of pages31
JournalMinerva Pneumologica
Issue number4
StatePublished - Dec 2009
Externally publishedYes


  • Cataplexy
  • Narcolepsy, diagnosis
  • Narcolepsy, epidemiology
  • Narcolepsy, therapy
  • Sleep

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine


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