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Case Reports
. 1979 Mar;29(3):380-4.
doi: 10.1212/wnl.29.3.380.

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

J G Oonk, H J van der Helm, J J Martin
Case Reports

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

J G Oonk et al. Neurology. 1979 Mar.

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 GM2 gangliosidosis.

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