Cerebrospinal fluid monoamines in Prader-Willi syndrome

Background: The behavioral phenotype of Prader-Willi syndrome (PWS) suggest s hypothalamic dysfunction and altered neurotransmitter regulation. The pur pose of this study was to examine whether there was nay difference in the c oncentrations 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 i n 13 children and adolescents with PWS diagnosed on clinical and genetic cr iteria. The concentrations were compared with those from 56 comparison case s in healthy and other contrast groups. Results: The concentrations of dopamine and particularly serotonin metaboli tes were increased in the PWS group. The differences were most prominent fo r 5-hydroxyindoleacetic acid. The increased concentrations were found in al l PWS cases independently of age, body mass index, and level of mental reta rdation. 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. Biol Psychiatry 1998;44:1321-13 28 (C) 1998 Society of Biological Psychiatry.