[Neuroimaging and neurochemical studies of Rett syndrome].
We review here the current status of neuroimaging and neurochemical research on Rett syndrome (RTT), with reference to neurophysiological, neuropathological, and immuno-histochemical changes previously described. Abnormalities have been reported in the intermediates of the biogenic amine neurotransmitters/receptor systems, and of beta-phenylethylamine (PEA), an endogenous amine synthesized by the decarboxylation of phenylalanine in dopaminergic neurons of the nigrostratal system. We also discuss the roles of other neurotransmitters including beta-endrophin, substance P and neurotrophic factors including nerve growth factors. Recently, mutations in the gene encoding methyl-CpG binding protein 2 (MeCP2), mapped to Xq28, have been identified in patients with RTT. Multiple abnormalities in various neurotransmitter/receptor systems may accounts for the pervasive defects in RTT.
Matuishi
Toyojiro
T
Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume.
Yamashita
Yushiro
Y
D001679:Biogenic Amines / Q000378:metabolism; D001923:Brain Chemistry; D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins / Q000235:genetics; D003952:Diagnostic Imaging / Q000379:methods; D006801:Humans; D008279:Magnetic Resonance Imaging; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins; D015518:Rett Syndrome / Q000175:diagnosis / Q000378:metabolism / Q000503:physiopathology
D001679:Biogenic Amines; D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins