Neurobiology and neurochemistry of Rett syndrome.
Brain Dev
; 23 Suppl 1: S58-61, 2001 Dec.
Article
em En
| MEDLINE
| ID: mdl-11738843
ABSTRACT
The current status of neurobiological and neurochemical research on Rett syndrome is reviewed, and correlations are developed with previously described neurophysiological, neuroimaging, neuropathological, and immunohistochemical changes. We review the abnormalities reported in the biogenic amine neurotransmitters/receptor systems, and of beta-phenylethylamine, an endogenous amine synthesized by the decarboxylation of phenylalanine in dopaminergic neurons of the nigrostriatal system. We also discuss the roles of other neurotransmitters, including beta-endorphin and substance P, and neurotrophic factors, including nerve growth factors. Recently, DNA mutations in the methyl-CpG binding protein 2, mapped to Xq28, have been identified in some patients with Rett syndrome. The multiple abnormalities in the various neurotransmitters/receptor systems explain the pervasive effects of Rett syndrome.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Química Encefálica
/
Síndrome de Rett
/
Sistema Nervoso Central
/
Neurotransmissores
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
Idioma:
En
Revista:
Brain Dev
Ano de publicação:
2001
Tipo de documento:
Article
País de afiliação:
Japão