Document Detail


Neurobiology of Rett syndrome.
MedLine Citation:
PMID:  14649550     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Michael V Johnston; Brendan Mullaney; Mary E Blue
Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Journal of child neurology     Volume:  18     ISSN:  0883-0738     ISO Abbreviation:  J. Child Neurol.     Publication Date:  2003 Oct 
Date Detail:
Created Date:  2003-11-27     Completed Date:  2004-02-11     Revised Date:  2005-11-17    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  688-92     Citation Subset:  IM    
Affiliation:
Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. Johnston@kennedykrieger.org
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MeSH Terms
Descriptor/Qualifier:
Animals
Basal Nucleus of Meynert / metabolism
Brain / metabolism*,  pathology
Cerebellum / metabolism
Cerebral Cortex / metabolism
Cholinergic Fibers / metabolism
Chromosomal Proteins, Non-Histone*
DNA-Binding Proteins / metabolism*
Dendrites / metabolism
Glutamic Acid / metabolism
Humans
Immunohistochemistry
Methyl-CpG-Binding Protein 2
Presynaptic Terminals / metabolism,  pathology
Purkinje Cells / metabolism
Receptors, Glutamate / metabolism
Repressor Proteins*
Rett Syndrome / metabolism*,  physiopathology
Rodentia
Synapses / metabolism*,  pathology
Chemical
Reg. No./Substance:
0/Chromosomal Proteins, Non-Histone; 0/DNA-Binding Proteins; 0/MECP2 protein, human; 0/Methyl-CpG-Binding Protein 2; 0/Receptors, Glutamate; 0/Repressor Proteins; 56-86-0/Glutamic Acid

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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