INCREASED LEVELS OF GM(2) GANGLIOSIDE IN FIBROBLASTS FROM A PATIENT WITH JUVENILE NIEMANN-PICK-DISEASE TYPE-C

A 15-year-old boy was suffering from splenomegaly and a 10-year histor y of a neurologic disorder that included mental retardation, vertical supranuclear gaze palsy, dysarthria, ataxia, and dystonia, Bone marrow aspirates revealed foamy cells with storage materials which were posi tive with filipin staining, Cultured skin fibroblasts derived from the patient showed moderate loss of sphingomyelinase activity and the imp airment of cholesterol esterification. The characteristic clinical pre sentations and typical histochemical findings of this patient met the diagnostic criteria of Niemann-Pick disease type C (NPC), In the fibro blasts from the patient, there was an accumulation of GM(2) gangliosid e around their cytoplasms. Increased levels of glycolipids, including GM(2) ganglioside are reported in the cerebral cortex of NPC, but not in the fibroblasts. The fibroblasts derived from NPC may reflect the a bnormal metabolism of glycolipids in the central nervous system of NPC . (C) 1998 Elsevier Science B.V.