Hypocretin (orexin) deficiency in human narcolepsy.
Level 4 - case-series / case-control
Small case series measuring hypocretin in humans with narcolepsy.
PubMed 10615891 · doi:10.1016/S0140-6736(99)05582-8
What was done
Hypocretin levels were evaluated in nine individuals with narcolepsy following earlier animal model findings involving hypocretin system genes.
What was found
Hypocretin was undetectable in 7 out of 9 people with narcolepsy.
Why it matters
It provides early human evidence directly linking hypocretin deficiency to narcolepsy pathophysiology.
Limits
The sample size is extremely small (n = 9). The abstract does not mention a control group, assay methodology, the biological tissue or fluid assayed, or reasons why two individuals had detectable hypocretin.
Cited by
- supports Emmanuel Mignot and Seiji Nishino discovered the genes underlying narcolepsy.