Acetylcholine and aromatic amine systems in postmortem brain of an infant with Down's syndrome.

Adult cases of Down's syndrome often show histologic and biochemical changes comparable to those seen in severe Alzheimer's disease, but it is not known whether these are congenital or acquired defects. Cell counts of the basal forebrain cholinergic system innervating the cortex in a 5.5-month-old male infant with Down's indicated about 50% of the number of cells expected at birth but this is in the range of cell numbers found in healthy middle-aged normals. The noradrenergic system of the locus ceruleus has the expected complement of cells for normal newborns. The activities of choline acetyltransferase (ChAT), acetylcholinesterase (AChE), glutamate decarboxylase, and tyrosine hydroxylase in a number of brain regions are reported for this infant, two cases of crib death, and a group of normal adults. The regional distributions of the enzymes in the infants were generally as expected from adult control data except for that of ChAT in one of the two cases of crib death; the AChE activities seemed extraordinarily high, especially in the case of Down's syndrome. Data on the concentrations of the catecholamines, serotonin, and their metabolites are also given but, like the enzyme data, are difficult to interpret in the absence of controls for the neonatal period.