Current concepts in the etiology, diagnosis and treatment of narcolepsy

Research output: Contribution to journalArticle

65 Citations (Scopus)

Abstract

Background and purpose: Narcolepsy is the most common neurologic cause of excessive daytime sleepiness. Rapid eye movement (REM) sleep phenomena such as cataplexy, sleep paralysis and hypnagogic hallucinations can also occur. Cataplexy, a sudden bilateral loss of muscle tone usually brought on by emotional reactions such as excitement, is essentially unique to narcolepsy. Narcolepsy, which has a prevalence of 0.02-0.05% in the US, has a profound influence on the quality of life and safety of affected individuals. Patients and methods: The most characteristic and striking physiological abnormality observed in narcolepsy is the sleep-onset REM, or the occurrence of REM sleep at, or within 20 min of, the onset of sleep. The diagnosis is established by nocturnal polysomnography, and the Multiple Sleep Latency Test (MSLT). Results: Familial cases of narcolepsy have been reported, with the risk to first-degree relatives estimated at 1-2%; however, most cases are sporadic and the syndrome is generally believed to involve environmental factors acting on a specific genetic background. The observation of an HLA association in narcolepsy suggests that autoimmunity may play a role in the disorder. However, extensive studies have failed to find convincing evidence of an autoimmune process. Patients with narcolepsy have recently been shown to be deficient in hypocretin, also called orexin, in the cerebrospinal fluid and have a reduction in hypocretin cells in the lateral hypothalamus. This suggests that hypocretins could potentially provide a novel therapeutic approach to the treatment of narcolepsy. Conclusions: Although non-pharmacologic measures can be helpful in treating narcolepsy, most patients require pharmacotherapy that includes psychostimulants or modafinil. Cataplexy is controlled by tricyclic antidepressants or selective serotonin reuptake inhibitors.

Original languageEnglish (US)
Pages (from-to)5-17
Number of pages13
JournalSleep Medicine
Volume2
Issue number1
DOIs
StatePublished - 2001

Fingerprint

Narcolepsy
Cataplexy
Sleep
REM Sleep
Therapeutics
Sleep Paralysis
Lateral Hypothalamic Area
Polysomnography
Tricyclic Antidepressive Agents
Hallucinations
Serotonin Uptake Inhibitors
Autoimmunity
Nervous System
Cerebrospinal Fluid
Quality of Life
Observation
Safety
Drug Therapy
Muscles

Keywords

  • CNS stimulants
  • Diagnosis
  • Drug treatment
  • Epidemiology
  • Etiology
  • Modafinil
  • Narcolepsy
  • Quality of life

ASJC Scopus subject areas

  • Dentistry(all)
  • Ophthalmology
  • Pulmonary and Respiratory Medicine
  • Neurology

Cite this

Current concepts in the etiology, diagnosis and treatment of narcolepsy. / Thorpy, Michael J.

In: Sleep Medicine, Vol. 2, No. 1, 2001, p. 5-17.

Research output: Contribution to journalArticle

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abstract = "Background and purpose: Narcolepsy is the most common neurologic cause of excessive daytime sleepiness. Rapid eye movement (REM) sleep phenomena such as cataplexy, sleep paralysis and hypnagogic hallucinations can also occur. Cataplexy, a sudden bilateral loss of muscle tone usually brought on by emotional reactions such as excitement, is essentially unique to narcolepsy. Narcolepsy, which has a prevalence of 0.02-0.05{\%} in the US, has a profound influence on the quality of life and safety of affected individuals. Patients and methods: The most characteristic and striking physiological abnormality observed in narcolepsy is the sleep-onset REM, or the occurrence of REM sleep at, or within 20 min of, the onset of sleep. The diagnosis is established by nocturnal polysomnography, and the Multiple Sleep Latency Test (MSLT). Results: Familial cases of narcolepsy have been reported, with the risk to first-degree relatives estimated at 1-2{\%}; however, most cases are sporadic and the syndrome is generally believed to involve environmental factors acting on a specific genetic background. The observation of an HLA association in narcolepsy suggests that autoimmunity may play a role in the disorder. However, extensive studies have failed to find convincing evidence of an autoimmune process. Patients with narcolepsy have recently been shown to be deficient in hypocretin, also called orexin, in the cerebrospinal fluid and have a reduction in hypocretin cells in the lateral hypothalamus. This suggests that hypocretins could potentially provide a novel therapeutic approach to the treatment of narcolepsy. Conclusions: Although non-pharmacologic measures can be helpful in treating narcolepsy, most patients require pharmacotherapy that includes psychostimulants or modafinil. Cataplexy is controlled by tricyclic antidepressants or selective serotonin reuptake inhibitors.",
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