Rett Syndrome

Pathophysiology

The basic underlying defect in RS is not known. However, associated abnormalities are thought to result from an arrest or failure of brain maturation, and associated dysfunction of higher brain functioning responsible for the organization of movement and thought.

Defective maturation of several neurotransmitter systems is thought to play some causative role in RS. This is supported by biochemical brain analyses that demonstrate reduced activity of the neurotransmitters acetylcholine, noradrenaline, dopamine, serotonin, and glutamate in certain regions of the cerebral cortex and the basal ganglia. In addition, deficiency of growth factors (i.e., neurotrophic growth factors) required for the maturation of the brain and spinal cord is thought to play a role in triggering certain changes associated with RS.