Juvenile GM1 gangliosidosis: Clinical, pathological, chemical and enzymatic studies

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Abstract
Clinical, histological, chemical and enzymatic studies are reported in five patients in two families with juvenile GM1 gangliosidosis (GM1 gangliosidosis, Type 2). The clinical picture includes onset of mental and motor retardation beginning at about one year of age and progressive neurological decline with death usually within the first decade. Bony deformities, although mild, are often present and are diagnostically helpful. Ganglioside GM1 and a galactose‐containing polysaccharide (similar to keratan sulfate) are stored, β‐galactosidase activities are reduced in tissues and cultured skin fibroblasts; both homozygotes and heterozygotes can be detected by this method. The differentiation of juvenile GM1 gangliosidosis from generalized gangliosidosis (GM1 gangliosidosis, Type 1) is discussed.

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