The levels of endogenous biogenic amines and neurotransmitter receptors in the brains of 5 patients with Rett’s syndrome and 6 normal controls were examined at The Johns Hopkins University, Kennedy Institute for Handicapped Children, The Department of Neurology and Pediatrics, The Johns Hopkins Hospital, Baltimore, MD and The National Institute of Mental Health, Washington, D.C. The patients with Rett’s syndrome were all female and they had died at ages 4, 10, 12, 15, 21 years. The cause of death was unknown in 2, asphyxiation in 1, drowning in 1 and pneumonia, 1. The level of choline acetyltransferase activity was lower in many cortical and subcortical regions in the Rett syndrome brains as compared with the mean level in the controls. Endogenous dopamine levels in the superior frontal and superior temporal gyri, occipital cortex, and putamen were reduced. The authors note that these results suggest neurochemical features in Rett’s syndrome similar to those found in Parkinson’s and Alzheimer’s diseases. [1]
COMMENT. The dopamine agonist, bromocriptine, used to treat girls with Rett’s syndrome, has made them more relaxed, sociable, affectionate and attentive, the stereotyped hand-washing movements diminished and some patients spoke for the first time [2]. The hypothesis that a disturbance in the function of central dopaminergic systems in Rett’s syndrome is related to a defect in maturation may also be extended to include the cholinergic neural system. The search for a biochemical marker for Rett’s syndrome continues.