Reduced concentrations and increased metabolism of biogenic amines in a single case of Rett-syndrome: a postmortem brain study.
Preliminary data of a postmortem brain study in a single case with Rett-syndrome compared to a single control case show a severe reduction of dopamine (DA), noradrenaline (NA), and serotonin (5-HT) in most regions studied and in two regions of adrenaline (A). A marked increase in the 3,4-dihydroxyphenyl acetic acid (DOPAC)/DA, homovanillic acid (HVA)/DA, and the 5-hydroxyindole acetic acid (5-HIAA)/5-HT ratios indicates increased metabolism of DA and 5-HT. Also a marked reduction of 3H-spiroperidol-binding in putamen was found. This agrees with the assumption that a defect in maturation processes of central monoaminergic systems could be an underlying cause of Rett-syndrome.
D001679:Biogenic Amines / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D001523:Mental Disorders / Q000378:metabolism*; D009422:Nervous System Diseases / Q000378:metabolism*; D009994:Osmolar Concentration; D011180:Postmortem Changes; D011699:Putamen / Q000378:metabolism; D013134:Spiperone / Q000378:metabolism; D013577:Syndrome; D014316:Tritium
D001679:Biogenic Amines; D014316:Tritium; D013134:Spiperone