Increased levels of GM₂ ganglioside in fibroblasts from a patient with juvenile Niemann–Pick disease type C

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• 作者：Watanabe ; Yasuhiro ; Akaboshi ; Shinjiro ; Ishida ; Gen ; Takeshima ; Takao ; Yano ; Tamami ; Taniguchi ; Miyako ; et. al.
• 关键词：Niemann&ndash ; Pick disease type C (NPC) ; Juvenile lipidosis ; Foamy cells ; Cholesterol ; GM₂ ganglioside
• 刊名：Brain and Development
• 出版年：1998
• 出版时间：March, 1998
• 年：1998
• 卷：20
• 期：2
• 页码：95-97
• 全文大小：955 K

文摘

A 15-year-old boy was suffering from splenomegaly and a 10-year history 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 positive with filipin staining. Cultured skin fibroblasts derived from the patient showed moderate loss of sphingomyelinase activity and the impairment of cholesterol esterification. The characteristic clinical presentations and typical histochemical findings of this patient met the diagnostic criteria of Niemann–Pick disease type C (NPC). In the fibroblasts from the patient, there was an accumulation of GM₂ ganglioside around their cytoplasms. Increased levels of glycolipids, including GM₂ ganglioside are reported in the cerebral cortex of NPC, but not in the fibroblasts. The fibroblasts derived from NPC may reflect the abnormal metabolism of glycolipids in the central nervous system of NPC.