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      A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains.

      Nature medicine

      Tissue Distribution, Adult, genetics, Receptors, Neuropeptide, Receptors, G-Protein-Coupled, Protein Processing, Post-Translational, chemistry, Pons, Orexin Receptors, Neurotransmitter Agents, analysis, Neuropeptides, Narcolepsy, Mutation, Molecular Sequence Data, Middle Aged, Male, Intracellular Signaling Peptides and Proteins, cytology, Hypothalamus, Humans, Genetic Testing, Female, European Continental Ancestry Group, Cerebral Cortex, Carrier Proteins, Brain Chemistry, Aged, 80 and over, Aged, Age of Onset

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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.

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          Journal
          10.1038/79690
          10973318

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