Neuropathology of Various Types of Niemann-Pick Disease

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Abstract
A comparative neuropathological and histochemical study was performed on the brains of seven cases of NPD. In type A (two cases), besides the neuronal storage of SM, a widespread endothelial storage of a neutral glycosphingolipid was found. In one case a pseudosystemic lesion of the pallido-nigral system was observed. In type B (one case) the only finding was the endothelial storage of SM. In type C (four cases) the degree of neuronal storage distension contrasted considerably with a very low amount of lipid demonstrable histochemically in fixed brains. Only in one case, focal neuronal storage of aphosphoglyceride could be proved. However, in peripheral neurons (of unfixed appendix) the phoshoglycerides were clearly predominating (one case). A remarkable and constant finding in each case of the series was a widespread neuroaxonal dystrophy with various topical maxima (thalamus, dentate nuclei). The significance of the findings are discussed in relation to the present status of knowledge of this type.