Recent developments in Rett syndrome research

Rett syndrome is the familiar expression of a profoundly disabling disorder that follows mutation in the MECP2 gene (chromosome Xq28). Previously reco gnized only in females, it is clear that males may survive and that the ran ge of severity is wider than was originally appreciated, from mild learning disability to lethal neonatal encephalopathy. Anatomical, neurochemical an d physiological studies indicate early failure of neuronal connectivity, sp ecifically involving the brain stem and cerebral cortex, and provide fresh insight into normal and abnormal development. The emergence of a mouse mode l has improved the prospects for effective intervention. (C) 2001 Lippincot t Williams & Wilkins.