Case Reports
doi: 10.1212/wnl.29.3.380.
Spinocerebellar degeneration: hexosaminidase A and B deficiency in two adult sisters
- PMID: 571983
- DOI: 10.1212/wnl.29.3.380
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Case Reports
Spinocerebellar degeneration: hexosaminidase A and B deficiency in two adult sisters
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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