Research on Rett syndrome: strategy and preliminary results

The research strategy presented here involves four assumptions: (1) Rett syndrome exists; (2) a single cause will eventually be found to account for the majority of cases presently assigned to this disease category; (3) it is genetically determined; and (4) it represents a neurodegenerative disorder that can be defined by quantitative studies of nervous system structure and function. The strategy proposed here involves the comprehensive study of 100 patients with the classic Rett syndrome phenotype. Studies include the (1) search for a diagnostic marker; (2) high-resolution cytogenetic banding techniques, (3) quantitative morphologic studies of postmortem brain tissue as well as neurochemical analyses including autoradiographic techniques, radioimmunoassays, and in situ hybridization; and (4) positron emission tomography studies of cerebral glucose metabolism and neurotransmitters.