Spinocerebellar degeneration
- 1 March 1979
- journal article
- research article
- Published by Wolters Kluwer Health in Neurology
- Vol. 29 (3), 380
- https://doi.org/10.1212/wnl.29.3.380
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.This publication has 2 references indexed in Scilit: