Increased levels of GM2 ganglioside in fibroblasts from a patient with juvenile Niemann-Pick disease type C.
Brain Dev
; 20(2): 95-7, 1998 Mar.
Article
em En
| MEDLINE
| ID: mdl-9545179
ABSTRACT
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças de Niemann-Pick
/
Gangliosídeo G(M2)
Limite:
Adolescent
/
Humans
/
Male
Idioma:
En
Revista:
Brain Dev
Ano de publicação:
1998
Tipo de documento:
Article
País de afiliação:
Japão