Spinocerebellar degeneration: Hexosaminidase A and B deficiency in two adult sisters

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Abstract

Article abstract

Two adult sisters had spinocerebellar degeneration. Biochemical studies revealed a very low activity of both fraction A and fraction B of the lysosomal enzyme, hexosaminidase, in serum and leukocytes. A skin biopsy showed lesions suggestive of neuronal storage disease. The disorder seems to be an adult form of GMz gangliosidosis.

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