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

By C. Peyron, J. Faraco, W. Rogers, B. Ripley, S. Overeem, Y. Charnay, S. Nevšímalová, M. Aldrich, D. Reynolds, R. Albin and 12 more. Nature Medicine, 2000

2,065 citations recorded by the source corpus.

Subfields: Cognitive Neuroscience, Endocrine and Autonomic Systems

View Paper: https://www.semanticscholar.org/paper/05b8e4107cc652af3e375f75e4829788dbfae5af

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Cognitive Neuroscience

1. J. Allan Hobson
2. T. Sakurai
3. J. Siegel
4. T. Scammell
5. E. Pace-Schott
6. Y. Dan
7. Seung-Hee Lee
8. Jun Lu

In Endocrine and Autonomic Systems

1. J. Allan Hobson
2. T. Sakurai
3. J. Siegel
4. E. Pace-Schott
5. T. Scammell
6. Clifford B. Saper
7. Jun Lu
8. R. Greene

Citations in the corpus

• Dopaminergic Role in Stimulant-Induced Wakefulness (2001, positive): “1) and in hypocretin-deficient human patients (Peyron et al., 2000).”
• Hypothalamic regulation of sleep and circadian rhythms (2005, background): “The following year, it was reported that humans who have narcolepsy with cataplexy have few orexin neurons in the LHA and low orexin levels in the cerebrospinal flui”
• Neuromodulation of brain states. (2012, positive): “(Adamantidis et al., 2007 ), whereas loss of orexin, orexin receptors, or orexin neurons causes narcolepsy, a sleep disorder characterized by excessive sleepiness and sudden sleep attacks (Chemelli et al., 1999; Hara et al., 2001; Lin et al., 1999; Peyron et al., 2000).”
• The Neurobiology of Sleep: Genetics, cellular physiology and subcortical networks (2002, background): “Interestingly, human narcoleptics show a large reduction in the number of orexinergic neurons in the lateral hypothalamu”
• Sleep (2007, background): “Many of the symptoms of narcolepsy can be mimicked by genetic deletion of the hypocretin or Orexin peptide in mice (Chemelli et al., 1999) or the mutation of the hypocretin or Orexin receptor2 gene in the dog (Lin et al., 1999).”
• Discharge of Identified Orexin/Hypocretin Neurons across the Sleep-Waking Cycle (2005, background): “Yet, loss of the peptide orexin (Orx) (also called hypocretin), its receptor, or the neurons that contain it, results in an incapacity to maintain wakefulness and a syndrome known as narcolepsy, characterized by hypersomnolence, sudden onset of rapid eye movement sleep (REMS) [also called paradoxica”
• The role of cerebrospinal fluid hypocretin measurement in the diagnosis of narcolepsy and other hypersomnias. (2002, neutral): “MSLT‐, HLA‐ CSF = 420 40, CP‐ MSLT no, HLA‐ CSF = 508 37 ( 29 ), CP‐ MSLT‐, HLA+ CSF = 589 41 (16), CP+ MSLT+, HLA+ CSF = 590 21 (11), CP‐”
• Fos Expression in Orexin Neurons Varies with Behavioral State (2001, background): “The brains of narcoleptics exhibit a nearly complete loss of neurons expressing orexin mRNA or peptide ( Peyron et al., 2000; Thannickal et al., 2000), and individuals with narcolepsy often have unmeasurably low orexin levels in CSF (Nishino et al., 2000).”
• Sleep State Switching (2010, background): “The loss of orexins is not due to a simple genetic abnormality, as orexin deficiency is acquired during young adulthood, and the vast majority of people with narcolepsy do not have mutations of the genes encoding the orexin peptides or their OX1 or OX2 receptors (Olafsdóttir et al., 2001; Peyron et ”
• Behavioral correlates of activity in identified hypocretin/orexin neurons. (2005, positive): “Human narcolepsy is linked to a relatively selective loss of Hcrt cells (Peyron et al., 2000; Thannickal et al., 2000; Thannickal et al., 2003), whereas Hcrt levels are normal in most other neurodegenerative disorders (Ripley et al.”