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Neurology 2001;57:1893-1895
© 2001 American Academy of Neurology
Brief Communications

Polymorphisms in the vicinity of the hypocretin/orexin are not associated with human narcolepsy

Marcel Hungs, MD PhD;, Ling Lin, MD PhD;, Michele Okun, MA and Emmanuel Mignot, MD PhD

From the Stanford Center for Narcolepsy, Department of Psychiatry and Behavioral Sciences, Stanford University Medical Center, CA.

Address correspondence and reprint requests to Dr. E. Mignot, Stanford Center for Narcolepsy, Department of Psychiatry and Behavioral Sciences, Stanford University Medical Center, 1201 Welch Road, Rm. P-114, Stanford, CA 94305-5485; e-mail: mignot{at}stanford.edu

Human narcolepsy/cataplexy is associated with reduced hypocretin (orexin) transmission. A common preprophypocretin (HCRT) polymorphism (-909C/T) was identified and tested in 502 subjects (105 trio families, 80 Caucasian narcolepsy cases, and 107 Caucasian control subjects). This polymorphism was not associated with the disease. The promoter and 5' untranslated (5'URT) regions of the HCRT gene (-320 to +21 from ATG) were also sequenced in 281 subjects. None of the subjects carried -22T, a rare 5'UTR polymorphism previously reported to be associated with narcolepsy. The HCRT locus is not a major narcolepsy susceptibility locus.




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K. Stiasny-Kolster, S.-C. Clever, J. C. Moller, W. H. Oertel, and G. Mayer
Olfactory dysfunction in patients with narcolepsy with and without REM sleep behaviour disorder
Brain, February 1, 2007; 130(2): 442 - 449.
[Abstract] [Full Text] [PDF]


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