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Research on Rett Syndrome: Strategy and Preliminar Results

John F. Kennedy Institute, 707 N. Broadway, Baltimore

Cheryl Ann Kitt, PhD

John F. Kennedy Institute and the Departments of Neurology, Pediatrics, Pathology, Johns Hopkins University, Baltimore

Dean F. Wong, MD

Department of Radiology, and Division of Nuclear Medicine Johns Hopkins University, Baltimore

Donald L. Price, MD

John F. Kennedy Institute and the Departments of Neurology, Pediatrics, Pathology, Johns Hopkins University, Baltimore

Juan C. Troncoso, MD

John F. Kennedy Institute and the Departments of Neurology, Pediatrics, Pathology, Johns Hopkins University, Baltimore

Hugo W. Moser, MD

John F. Kennedy Institute and the Departments of Radiology, and Division of Nuclear Medicine, Johns Hopkins University, Baltimore

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. (J Child Neurol 1988;3(Suppl):S78-S86).

Journal of Child Neurology, Vol. 3, No. 1 suppl, S78-S86 (1988)
DOI: 10.1177/088307388800300116


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