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TY - JOUR AU - Peyron, Christelle AU - Faraco, Juliette AU - Rogers, William AU - Ripley, Beth AU - Overeem, Sebastiaan AU - Charnay, Yves AU - Nevsimalova, Sona AU - Aldrich, Michael AU - Reynolds, David AU - Albin, Roger AU - Li, Robin AU - Hungs, Marcel AU - Pedrazzoli, Mario AU - Padigaru, Muralidhara AU - Kucherlapati, Melanie AU - Fan, Jun AU - Maki, Richard AU - Lammers, Gert Jan AU - Bouras, Constantin AU - Kucherlapati, Raju AU - Nishino, Seiji AU - Mignot, Emmanuel PY - 2000 DA - 2000/09/01 TI - A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains JO - Nature Medicine SP - 991 EP - 997 VL - 6 IS - 9 AB - 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. SN - 1546-170X UR - https://doi.org/10.1038/79690 DO - 10.1038/79690 ID - Peyron2000 ER -