Abstract
It has long been suspected that the Rett syndrome (RS) is associated with abnormality
of monoaminergic systems, particularly in the brainstem and midbrain, with spread
to basal ganglia and cerebral cortex. Early investigators found no significant abnormality
in the level of metabolites of noradrenaline, dopamine or serotonin in the spinal
fluid, but autopsy brain studies revealed reduced levels of these substances and their
metabolites as well as cortical choline acetyltransferase (ChAT) and microtubule-associated
proteins (MAP). Levels of Substance P in spinal fluid of RS girls have been reported
to be low, while levels of glutamate are raised. Attempts to assess dopaminergic activity
by positron emission tomography (PET) in RS have given variable results with different
reagents, including [18F] 6-fluorodopa. Our group investigated nine RS patients after the age of 12 years
and control girls of similar age. Volumetric scans of basal ganglia with Magnetic
Resonance Imaging showed a significant reduction in the size of caudate heads and
thalami in RS (but not in the size of lentiform nuclei). PET scans with [11C] raclopride and with [18F] 6-fluorodopa under intravenous propofol anesthesia showed the mean uptake of fluorodopa
to be reduced by 13.1% in caudate and by 12.4% in putamen as compared to the controls,
whereas dopamine D2 receptor binding, as indicated by raclopride binding, was significantly
increased by 9.7% in caudate and by 9.6% in putamen.
Keywords
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© 2001 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
