The neuroanatomy of Rett syndrome: Neuropathological and neuroimaging studies

Rett Syndrome (RS) is a developmental disorder, of probable genetic origin, which predominantly affects females. Neuroanatomically, it is characterized by a generalized reduction in neuronal size which is reflected in a global decrease in brain volume. Superimposed to this, there are specific changes that involve the nigrostriatal dopaminergic pathway and the basal forebrain cholinergic system. Research using new neuroanatomic and neuroimaging approaches will help to further delineate the RS phenotype, as well as it will provide insight into the pathogenesis of this disorder.