McGeer E G, Norman M, Boyes B, O'Kusky J, Suzuki J, McGeer P L
Exp Neurol. 1985 Mar;87(3):557-70. doi: 10.1016/0014-4886(85)90184-0.
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.
成年唐氏综合征患者常表现出与重度阿尔茨海默病类似的组织学和生化变化，但尚不清楚这些是先天性还是后天性缺陷。对一名5.5个月大患唐氏综合征男婴的大脑皮质基底前脑胆碱能系统进行细胞计数，结果显示其细胞数量约为预期出生时数量的50%，但这仍处于健康中年正常人的细胞数量范围内。蓝斑去甲肾上腺素能系统的细胞数量与正常新生儿预期相符。报告了该男婴、两例摇篮死亡病例以及一组正常成年人多个脑区中胆碱乙酰转移酶（ChAT）、乙酰胆碱酯酶（AChE）、谷氨酸脱羧酶和酪氨酸羟化酶的活性。除两例摇篮死亡病例之一中ChAT的活性外，婴儿脑中这些酶的区域分布总体上与成年对照数据预期一致；AChE的活性似乎异常高，尤其是在唐氏综合征病例中。还给出了儿茶酚胺、血清素及其代谢产物浓度的数据，但与酶数据一样，在缺乏新生儿期对照的情况下难以解释。
