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  • Title: A case of type 2 Gm1-gangliosidosis with long survival.
    Author: Kikuchi K, Minami R, Kudoh T, Nakao T, Tsugawa S.
    Journal: Brain Dev; 1982; 4(2):153-6. PubMed ID: 6807121.
    Abstract:
    An 11-year-old boy with type 2 GM1-gangliosidosis was presented, providing further evidence for the clinical and biochemical heterogeneity of the disease. The patient had several characteristics of type 2 GM1-gangliosidosis, but was different from so-called typical type 2 GM1-gangliosidosis from the point of view of survival and the degree of GM1-ganglioside accumulation. GM1-gangliosidosis was diagnosed by absence of beta-galactosidase activity in leukocytes and the parents had the enzyme levels of heterozygotes. However, the amount of the brain GM1-ganglioside was accumulated to a less degree in comparison with that of typical type 2 GM1-gangliosidosis, though the activity of GM1-beta-galactosidase in the brain was deficient to the same degree as in the typical case.
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