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 β-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 β-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.
Keywords
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© 2001 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
