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A new juvenile hexosaminidase deficiency disease presenting as cerebellar ataxia

Clinical and biochemical studies

Departments of Neurology and Pathology, Columbia University College of Physicians and Surgeons, and Neurological Institute of New York.

A boy with mild hand tremor since age 2 was found at 4 to have cherry-red spots and mild truncal ataxia without seizures or dementia. Biochemically, he had striking hexosaminidase deficiency (serum: 4.6 percent of normal, 88.9 percent heat-labile; leukocyte: 2.2 percent of normal, 84.6 percent heat-labile; fibroblast 12.8 percent of normal, 93.1 percent heat-labile). The residual hexosaminidase activity migrated electrophoretically in two bands. The major band comigrated with hexosaminidase A, the minor with hexosaminidase S. Hexosaminidase B was totally absent. The parents had partially reduced hexosaminidase with a decreased heat-stabile fraction. This disorder may result from a new mutation closely related to that causing Sandhoff-Jatzkewitz disease.

Dr Johnsons address is Department of Neurology, College of Physicians and Surgeons, Columbia University, 710 West 168th Street, New York, NY 10032.

This investigation was supported by Cli nical Center grants from the National Institute of Neurological and Communicative Disorders and Stroke (11766) and the Muscular Dystrophy Association, Inc, and by grant No 1-R01-CA-18172, awarded by the National Cancer Institute, DHEW

Accepted for publication March 1977

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