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GM1 gangliosidosis: Review of clinical, molecular, and therapeutic aspects

✍ Scribed by Nicola Brunetti-Pierri; Fernando Scaglia

Book ID
116988376
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
1001 KB
Volume
94
Category
Article
ISSN
1096-7192

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GM1-gangliosidosis: Accumulation of gang
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Uptake of radioactivity from 14C-galactose into gangliosides by cultured skin fibroblasts was studied. GM3 was the major ganglioside in control human fibroblasts. An increase of GM1 was demonstrated in GM1-gangliosidosis fibroblasts. The degree of GM1 accumulation was correlated with the clinical ty

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## Abstract Deficiency of enzyme acid β‐galactosidase causes G~M1~ gangliosidosis. Patients with adult G~M1~ gangliosidosis typically present with generalized dystonia. We describe clinical, bone marrow, and radiological features of adult G~M1~ gangliosidosis to help improve its recognition. We rep