Lipid class composition of normal human brain and variations in metachromatic leucodystrophy,Tay-Sachs,Niemann-Pick,chronic gaucher’s and Alzheimer’s diseases

Procedures suitable for obtaining representative samples of whole brain and of total grey and white matter of brain are presented and discussed. A procedure is described for the quantitative determination of lipid class distribution of human brain specimens utilizing in sequence : a cellulose column to separate gangliosides and nonlipid material from the remaining lipids, diethylaminoethyl (DEAE) cellulose column chromatography to separate the lipid classes into manageable groups, and finally quantitation of the lipid classes by thin-layer chromatography (TLC). TLC is made quantitative by correlating the amt of charring of spots on chromatograms with the amt of lipid present by means of transmission densitometry. The use of two-dimensional TLC for the analysis of brain lipids and its application to the study of pathological brain specimens is also described. The application of these procedures to the study of metachromatic leucodystrophy, Tay-Sachs, Niemann-Pick, and Alzheimer’s diseases and senile cerebral cortical atrophy is described and data are presented. In two cases of Alzheimer’s disease, a large reduction in fresh weight and total lipid of brain were found; the lipid class distribution of whole brain in one case and of total grey and total white matter in another were essentially normal. The lipid class distributions of the brain in metachromatic leucodystrophy, Tay-Sachs disease, and Niemann-Pick disease were shown to be similar to that of normal infant brain except that one sphingolipid was greatly increased in each disease (sulfatide in metachromatic leucodystrophy, one ganglioside in Tay-Sachs disease, and sphingomyelin in Niemann-Pick disease).