Cerebrospinal fluid monoamines in Prader-Willi syndrome

Biol Psychiatry. 1998 Dec 15;44(12):1321-8. doi: 10.1016/s0006-3223(97)00519-2.


Background: The behavioral phenotype of Prader-Willi syndrome (PWS) suggests hypothalamic dysfunction and altered neurotransmitter regulation. The purpose of this study was to examine whether there was any difference in the concentrations of monoamine metabolites in the cerebrospinal fluid (CSF) in PWS and non-PWS comparison cases.

Methods: The concentration of monoamine metabolites in CSF was determined in 13 children and adolescents with PWS diagnosed on clinical and genetic criteria. The concentrations were compared with those from 56 comparison cases in healthy and other contrast groups.

Results: The concentrations of dopamine and particularly serotonin metabolites were increased in the PWS group. The differences were most prominent for 5-hydroxyindoleacetic acid. The increased concentrations were found in all PWS cases independently of age, body mass index, and level of mental retardation.

Conclusions: The findings implicate dysfunction of the serotonergic system and possibly also of the dopamine system in PWS individuals, and might help inform future psychopharmacologic studies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Autistic Disorder / cerebrospinal fluid
  • Autistic Disorder / complications
  • Birth Weight / physiology
  • Body Mass Index
  • Child
  • Child, Preschool
  • Female
  • Homovanillic Acid / cerebrospinal fluid
  • Humans
  • Hydroxyindoleacetic Acid / cerebrospinal fluid
  • Infant
  • Intelligence Tests
  • Male
  • Methoxyhydroxyphenylglycol / cerebrospinal fluid
  • Neurotransmitter Agents / cerebrospinal fluid
  • Obesity / cerebrospinal fluid
  • Obesity / complications
  • Phenotype
  • Prader-Willi Syndrome / cerebrospinal fluid*
  • Prader-Willi Syndrome / genetics
  • Prader-Willi Syndrome / psychology


  • Neurotransmitter Agents
  • isoMHPG
  • Methoxyhydroxyphenylglycol
  • Hydroxyindoleacetic Acid
  • Homovanillic Acid