Etiology and Genetics of Human Narcolepsy



Low levels of the neuropeptide hypocretin-1 (hcrt-1, also called orexin-A) are found in the cerebrospinal fluid (CSF) of most people with narcolepsy with cataplexy and in some without cataplexy [1–6]. As a result, in the most recent revision of the International Classification of Sleep Disorders (ICSD), narcolepsy with cataplexy and narcolepsy without cataplexy have been separated [7]. In this chapter, we will discuss the etiology of narcolepsy/hcrt deficiency, as there is a strong suggestion of homogeneity based on the very high association with human leukocyte antigen (HLA) DQB1*0602 and low CSF hcrt-1. References to narcolepsy without cataplexy, defined by sleepiness and a positive multiple sleep latency test (MSLT), will also be made, although the condition likely represents a constellation of problems and pathologies. We will also briefly discuss secondary narcolepsy cases.


Human leukocyte antigen Mutation Autoimmunity Genetics Prevalence Narcolepsy 


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© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  1. 1.Stanford Center for Sleep SciencesStanford University School of MedicinePalo AltoUSA

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