News & Updates
Search Research Content
Resource Finder at Kennedy Krieger Institute
A free resource that provides access to information and support for individuals and families living with developmental disabilities.
Neurobiology of Rett syndrome.
|Title||Neurobiology of Rett syndrome.|
|Publication Type||Journal Article|
|Year of Publication||2003|
|Authors||Johnston MV, Mullaney B, Blue ME|
|Journal||Journal of child neurology|
|Date Published||2003 Oct|
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.
|Alternate Journal||J. Child Neurol.|