Summary
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.
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References
Adachi M, Schneck L, Volk BW (1978) Progress in investigation of sphingolipidoses. Acta Neuropathol (Berl) 43:1–18
Anzil AP, Blinzinger K, Mehraein P, Dozic S (1973) Niemann-Pick disease type C: case report with ultrastructural findings. Neuropae-diatrie 4:207–225
Elfenbein IB (1968) Dystonic juvenile idiocy without amaurosis. A new syndrome. Light and electron microscopic observations of cerebrum. John Hopkins Med J 123:205–211
Elleder M, Šmíd F, Kohn R (1975) Lipidosis with predominant storage of phosphoglycerides (Phospholipidosis type II-Baar, Wiedemann). Virchows Archiv [Pathol Anat] 365: 239–255
Elleder M, Jirásek A, Šmíd F (1975) Niemann-Pick diseases (Crocker’s type C). A histochemical study of the distribution and qualitative differences of the storage process. Acta Neuropathol (Berl) 33:191–200
Elleder M, Jirásek A, Šmíd F, Harzer K, Sehlegerová D (1978) An unusual case of phospholipidosis. Virchows Archiv [Pathol Anat] 377: 329–338
Elleder M, Šmíd F, Harzer K, Čihula J (1980) Niemann-Pick disease. Analysis of liver tissue in sphingomyelinase-deficient patients. Virchows Archiv [Pathol Anat] 385:215–231
Harzer K, Benz HU (1976) Sphingomyelinosen (Niemann-Pieksche Erkrankung). In: Schettler G, Greten H, Schlierf G, Seidel D (eds) Fettstoffwechsel. Springer, Berlin Heidelberg New York (Handbuch der inneren Medizin, Band VII/4, S 525–546)
Harzer K, Anzil AP, Schuster I (1977) Resolution of tissue sphingomyelinase isoelectric profile in multiple components is extraction-dependent: evidence for a component defect in Niemann-Pick disease type C is spurious. J Neurochem 29:1155–1157
Harzer K, Schlotte W, Peiffer J, Benz HU, Anzil AP (1978) Neurovisceral lipidosis compatible with Niemann-Pick disease type C: morphological and biochemical studies of a late infantile case and enzyme and lipid assays in a prenatal case of the same family. Acta Neuropathol (Berl) 43:97–104
Jellinger K, Jirásek A (1971) Neuroaxonal dystrophy in man: character and natural history. Acta Neuropathol (Berl) Suppl V:3–16
Jirásek A, Karpenko A (1973) Infantile neuroaxonal dystrophy. Čs Patol 9:129–134. In Czech
Jolly RD (1971) The pathology of the central nervous system in pseudolipidosis of Angus calves. J Pathol 103:113–121
Klinghardt GW (1974) Experimentelle Schädigungen von Nervensystem und Muskulatur durch Chlorochin: Modelle verschiedenartiger Speicherdystrophien. Acta Neuropathol (Berl) 28:117–141
Martin JJ, Philippart M, Hauwaert JV, Callahan JW, Deberdt R (1972) Niemann-Pick disease (Crocker’s group A). Late onset and pigmentary degeneration resembling Hallerwor-den-Spatz syndrome. Arch Neurol 27:45–51
Oppenheimer DR, Norman RM, Tingey AH, Aherne WA (1967) Histological and chemical findings in juvenile Niemann-Pick disease. J Neurol Sci 5:575–580
Wiedemann H-R, Debuch H, Lennert K, Caesar R, Blümcke S, Harms D, Tolksdorf M, Seng PN, Korenke H-D, Gerken H, Freitar F, Dörner KL (1972) Über eine infantil-juvenile, subchronisch verlaufende, den Sphingomyelinosen/Niemann-Pick/anzureihende Form der Lipidosen — ein neuer Typ? Z Kinderheilk 112:187–225
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Elleder, M., Jirásek, A. (1981). Neuropathology of Various Types of Niemann-Pick Disease. In: Jellinger, K., Gullotta, F., Mossakowski, M. (eds) Experimental and Clinical Neuropathology. Acta Neuropathologica Supplementum, vol 7. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-81553-9_60
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DOI: https://doi.org/10.1007/978-3-642-81553-9_60
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