摘要：Summary. - Rett syndrome (RS) is a progressive neurodevelopmental disorder predominant in females,
characterised by mental deficiency, stereotyped hand-washing and apraxia. Notwithstanding the recent
identification of the MECP2 gene likely involved in the pathogenesis of SR, the neurobiological bases of this
syndrome are still largely unknown. Converging evidence shows that the brain levels of nerve growth factor
(NGF), a neurotrophin regulating the development and functioning of central cholinergic neurons, are decreased
in RS girls. In this study, the serum levels of NGF were measured in classic RS, in the preserved speech variant
(PSV) and in normal controls. Overall analysis failed to evidence significant differences among the three groups.
However, whereas NGF levels increased significantly with age in controls, the opposite profile was observed in
classic RS, with a progressive age-dependent decrease of NGF. In PSV subjects NGF levels remained constant
with age. These findings strengthen the hypothesis of NGF involvement in the pathogenesis of RS.
