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

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

  • Nat Med. 2000 Sep;6(9):991-7. doi: 10.1038/79690.
C Peyron 1,  J Faraco,  W Rogers,  B Ripley,  S Overeem,  Y Charnay,  S Nevsimalova,  M Aldrich,  D Reynolds,  R Albin,  R Li,  M Hungs,  M Pedrazzoli,  M Padigaru,  M Kucherlapati,  J Fan,  R Maki,  G J Lammers,  C Bouras,  R Kucherlapati,  S Nishino,  E Mignot
Affiliations

Affiliation

  • 1 Center for Narcolepsy, Stanford University Medical School 1201 Welch Road, Stanford, California 94305-5485, USA.
PMID: 10973318 DOI: 10.1038/79690
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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