Abstract
Rett syndrome (RS) is a neurological disorder associated with cortical atrophy, stereotyped
hand movements, dementia, and extrapyramidal dysfunction. In a small number of RS
patients, dopaminergic function has been reported to be decreased throughout the neocortex
and basal ganglia. The present study investigated for changes in endogenous levels
of dopamine, its metabolite homovanillic acid, dopamine reuptake sites and dopamine
type-2 receptors in the brains of 12 RS patients (4-30 yrs) and 14 normal female controls
(2.5-20 yrs). The levels of each biomarker did not differ significantly between RS
and controls in any brain region examined. These data support the hypothesis that
dopaminergic neuronal function may be relatively normal in RS.
Key words
Rett syndrome - Dopamine - Reuptake sites - Receptors - Basal ganglia - Neocortex
