Author: ["Christelle Peyron","Juliette Faraco","William Rogers","Beth Ripley","Sebastiaan Overeem","Yves Charnay","Sona Nevsimalova","Michael Aldrich","David Reynolds","Roger Albin","Robin Li","Marcel Hungs","Mario Pedrazzoli","Muralidhara Padigaru","Melanie Kucherlapati","Jun Fan","Richard Maki","Gert Jan Lammers","Constantin Bouras","Raju Kucherlapati","Seiji Nishino","Emmanuel Mignot"]
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Abstract
We explored the role of hypocretins in human narcolepsy through histopathology of six narcolepsy brains and mutation screening of Hcrt, Hcrtr1 and Hcrtr2 in 74 patients of various human leukocyte antigen and family history status. One Hcrt mutation, impairing peptide trafficking and processing, was found in a single case with early onset narcolepsy. In situ hybridization of the perifornical area and peptide radioimmunoassays indicated global loss of hypocretins, without gliosis or signs of inflammation in all human cases examined. Although hypocretin loci do not contribute significantly to genetic predisposition, most cases of human narcolepsy are associated with a deficient hypocretin system.Cite this article
Peyron, C., Faraco, J., Rogers, W. et al. A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains. Nat Med 6, 991–997 (2000). https://doi.org/10.1038/79690 