Clinical heterogeneity in a sibship with Niemann-Pick disease type C.
The clinical presentation of Niemann-Pick type C is variable. However, in families hitherto described, the affected individuals in a given sibship show a similar clinical course. A family with histological and biochemical findings of Niemann-Pick type C is described. Four of the affected siblings presented with an early onset and a fulminant course resembling Niemann-Pick type A, whereas in the fifth sibling a later onset and a much slower neurological deterioration was observed. Genetic counseling in families with Niemann-Pick type C should take into consideration the possibility of clinical heterogeneity within the same sibship.
D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008099:Liver / Q000201:enzymology; D008247:Lysosomes / Q000201:enzymology; D009542:Niemann-Pick Diseases / Q000145:classification / Q000235:genetics*; D010375:Pedigree; D010743:Phospholipids / Q000378:metabolism; D013108:Sphingomyelin Phosphodiesterase / Q000235:genetics
D010743:Phospholipids; D013108:Sphingomyelin Phosphodiesterase