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Related Concept Videos

Narcolepsy01:07

Narcolepsy

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Narcolepsy is a chronic sleep disorder characterized by pervasive, uncontrolled sleepiness and other sleep disturbances. One of its hallmark symptoms is an abrupt transition to REM sleep upon falling asleep, which causes symptoms typically associated with this phase to occur unexpectedly during wakefulness. These include the following symptoms, which typically last from a minute or two to half an hour.
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Sleep-Wake Cycles01:24

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Substance Use Disorders Affecting Sleep01:24

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Substance use disorders involve a pattern of using drugs more extensively than intended and continuing use despite harmful consequences. This includes legal substances like alcohol and nicotine, as well as illegal drugs. These disorders often involve both physical and psychological dependence, reflecting compulsive use of substances that significantly alter thoughts, feelings, and behaviors, contributing to a major public health issue.
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REM Sleep Behavior Disorder (RBD) is a sleep disorder characterized by the absence of muscle paralysis that normally occurs during the REM phase of sleep. This absence allows individuals to physically act out their dreams, which are often vivid and disturbing. Common behaviors exhibited during episodes include kicking, punching, and yelling. These actions can be dangerous, potentially leading to injuries for the person with RBD or their bed partner.
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Collecting Hair Samples for Hair Cortisol Analysis in African Americans
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Narcolepsy in African Americans.

Makoto Kawai1,2, Ruth O'Hara1,2, Mali Einen3

  • 1Department of Psychiatry and Behavioral Sciences, Stanford University, School of Medicine, Stanford, CA.

Sleep
|July 10, 2015
PubMed
Summary

Narcolepsy presentation varies by ethnicity. African Americans with narcolepsy show earlier onset, higher sleepiness scores, and distinct HLA and hypocretin-1 levels, often without cataplexy.

Keywords:
African AmericanAsianCaucasianHLA DQB1*06:02Latinocataplexyhypocretin-1narcolepsy

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Area of Science:

  • Neurology
  • Sleep Medicine
  • Genetics

Background:

  • Narcolepsy affects 0.02-0.05% of the population across diverse ethnic groups.
  • Previous research has not fully characterized the clinical presentation of narcolepsy across different ethnicities.
  • Understanding ethnic variations is crucial for accurate diagnosis and management of narcolepsy.

Purpose of the Study:

  • To investigate and compare the phenotypic expression of narcolepsy across various ethnic groups in the United States.
  • To identify differences in clinical presentation, genetic markers, and biomarker levels among ethnic groups diagnosed with narcolepsy.

Main Methods:

  • A retrospective study analyzed narcolepsy cases from 1992 to 2013 from the Stanford Center for Narcolepsy Research database.
  • Patients were classified using International Classification of Sleep Disorders, Third Edition criteria for narcolepsy type 1 and type 2.
  • Data collected included demographics, ethnicity, HLA-DQB1*06:02 status, polysomnography (PSG), multiple sleep latency test (MSLT), and cerebrospinal fluid (CSF) hypocretin-1 levels.

Main Results:

  • While PSG and MSLT findings were consistent across ethnicities, African Americans reported earlier onset of sleepiness and higher Epworth Sleepiness Scale (ESS) scores.
  • HLA-DQB1*06:02 positivity was significantly higher in African Americans (91.0%) compared to other groups.
  • Low CSF hypocretin-1 levels (≤ 110 pg/ml) were more frequent in African Americans (93.9%). Notably, African Americans with low hypocretin-1 were more likely to lack cataplexy (28.3%) than Caucasians (8.1%).

Conclusions:

  • Narcolepsy in African Americans is distinguished by earlier symptom onset, elevated ESS scores, increased HLA-DQB1*06:02 positivity, and low CSF hypocretin-1 levels, often without cataplexy.
  • A higher proportion of African Americans with low hypocretin-1 levels present with type 1 narcolepsy despite the absence of cataplexy.
  • These findings highlight significant ethnic variations in narcolepsy presentation, particularly in African Americans.