Niemann-Pick’s disease

B45. Brunngraber, E. G., Berra, B., and Zambotti, V., Altered levels of tissue glycoproteins, gangliosides, glycosaminoglycans and lipids in Niemann-Pick s disease. Clin. Chim. Acta 48, 173-181 (1973). 

Bartsch, G. The nature of the lipids in the brain in Niemann-Pick s disease. In Cerebral lipidoses. A Symposium (Cumings, J.N., and Low-enthal. A., eds.), p. 159-163. Springfield, Illinois Charles C.Thomas Publisher 1957... 

Pick, L. II. Niemann-Pick s disease and other forms of so-called xanthomatosis (Dunham Lecture). Amer. J. med. Sci. 185, 601-616 (1933)... 

Norman, R. M. Tay-Sachs Disease with visceral involvement and its relationship to Niemann-Pick s disease, j. Path. Bact. 78, 409 (1959). 

Berman, S. L. Lipoid histiocytosis (Niemann-Pick s disease). Amer. J. Dis. Child. 36, 102 (1928). 

Goldstein, J., and D. Wexler Niemann-Pick s disease with cherry-red spots in macula, ocular pathology. Arch. Ophthal. 5, 704 (1931). 

Hassin, G. B. Niemann-Pick s disease, pathologic studies of cases. Arch. Neurol. Psychiat. (Chic.) 24, 61 (1930). 

Hastrup, B., and A. Videbaek Acid phosphatase in Niemann-Pick s disease and a therapeutic experiment with cortisone. Acta med. scand. 149, 287 (1954). 

Merksamer, E., and B. Kramer Niemann-Pick s disease. Report of three cases in one family. J. Pediat. 14, 51 (1939). 

SoBOTKA, H., E. Epstein, and L. Lichtenstein The distribution of lipoid in a case of Niemann-Pick s disease associated with amaurotic family idiocy. Arch. Path. 10, 677 (1930). 

Terry, R., W. M. Sperry, and B. Brodoff Adult lipidosis resembling Niemann-Pick s disease. Amer. J. Path. 30, 263 (1954). 

Videbaek, A. Niemann-Pick s disease, acute and chronic type. Acta paediat. (Uppsala) 37,95 (1949). 

In these obviously still rarer subgroups consanguinity should be particularly frequent, but apparently has not been observed. If thus genetically described subforms of Niemann-Pick s disease may be discussed, heterogeny cannot be considered proved to-date. 

Up to date no such advantage can be demonstrated for the heterozygotes in Tay-Sachs disease, and no such explanation can be found in Niemann-Pick s disease. Specific studies have also failed to detect an increased fertility of heterozygotes. Under to-day s circumstances considering psychological and social factors an increased fertility could be expected to appear only in heterozygotes who were not aware of being carriers, in other words who had not produced sick children and had not experienced the disease in near relatives. 

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