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Most cases of human narcolepsy cases are not caused by hypocretin gene mutations. Only one hypocretin mutation was found, in a case with unsually early narcolepsy onset at 6 months of
age.
This finding demonstrates that hypocretin mutations can cause narcolepsy in humans as they do in animals. This manuscript also extends on the human CSF study by showing that human narcolepsy brain tissues have no hypocretin-1 and 2 peptides. It also reports that human narcolepsy cases have no preprohypocretin transcripts in their hypothalami, an area containing the hypocretin cells. First publication indicating that human narcolepsy is caused by a destruction of hypocretin-containing cells, published in Nature Medicine, September 1st 2000.
SOURCE: Stanford School of Medicine Center for Narcolepsy -Peyron C, Faraco J, Rogers W, Ripley B, Overeem S, Charnay Y, Nevsimalova S, Aldrich M, Reynolds D, Albin R, Li R, Hungs
M, Pedrazzoli M, Padigaru M, Kucherlapati M, Fan J, Maki R, Lammers GJ, Bouras C, Kucherlapati R, Nishino S, Mignot E. Research
The Stanford University Sleep Clinic was the first medical clinic ever established to specialize in sleep disorders. It was founded in the early 1970s by Dr. William Dement to diagnose and treat narcoleptic patients. The Stanford Center for Narcolepsy was established in the 1980s and is now directed by Drs. Emmanuel Mignot and Seiji Nishino. The Center for Narcolepsy is part of the Department of Psychiatry and Behavioral Sciences and has published more than 100 articles on narcolepsy. It is the world leader in narcolepsy research.Several hundred patients with the disorder are currently treated at the Center or participate in various research protocols. Other research protocols are conducted in animals models of narcolespy. The Stanford Center for narcolepsy was the first to report that narcolepsy-cataplexy is caused by hypocretin (orexin) abnormalities in both animal models and humans.
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