Neurobiology of Rett syndrome

Michael V. Johnston, Brendan Mullaney, Mary E. Blue

Research output: Contribution to journalArticlepeer-review

28 Scopus citations


Girls with Rett syndrome display signs of neuronal dysfunction including mental retardation, seizures, stereotyped movements, and abnormal breathing and autonomic control. Decelerating head growth during infancy might reflect a disorder in production or pruning of neuronal synapses or both. Recent immunocytochemical studies in rodent brain investigating development of MeCP2, the transcription factor mutated in Rett syndrome, suggest that expression is delayed until the time of synapse formation. These findings are consistent with other evidence that Rett syndrome disrupts genetic programs that establish and refine synaptic connections.

Original languageEnglish (US)
Pages (from-to)688-692
Number of pages5
JournalJournal of child neurology
Issue number10
StatePublished - Oct 2003

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology


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