J Neuropsychiatry Clin Neurosci 1997; 9:75-80
Copyright © 1997 by American Neuropsychiatric Association
Elevated plasma gamma-aminobutyric acid (GABA) levels in individuals with either Prader-Willi syndrome or Angelman syndrome
MH Ebert, DE Schmidt, T Thompson and MG Butler
Department of Psychiatry, John F Kennedy Center, Vanderbilt University School of Medicine, Nashville, Tennessee 37232-2647, USA.
Plasma gamma-aminobutyric acid (GABA) levels were measured in 14 subjects
with Prader-Willi syndrome, 9 subjects with Angelman syndrome, and matched
control subjects. Mean levels in both patient groups were 2 to 3 times
higher than in nonretarded moderately obese or retarded nonobese control
subjects. Levels in each patient group differed significantly from both
control groups. Neither the two patient groups nor the two control groups
differed. GABA levels seemed unrelated to genetic status (chromosome 15
deletion or disomy). These preliminary findings of elevated plasma GABA
levels possibly represent a compensatory increase in presynaptic GABA
release in response to hyposensitivity of a subset of GABA receptors and
could produce increased postsynaptic activation of other normal GABA
receptor subtypes, resulting in complex alterations of GABAergic function
throughout the brain.
