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July 1971

Juvenile GM2 Gangliosidosis: Biochemical and Ultrastructural Studies on a New Variant of Tay-Sachs Disease

Author Affiliations

Los Angeles; La Jolla, Calif; Los Angeles
From the departments of pediatrics and neurology (Drs. Menkes and Grippo) and pathology (neuropathology) (Drs. Andrews and Cancilla), UCLA Center for the Health Sciences, Los Angeles; Department of Psychosocial Medicine, Brentwood Veterans Administration Hospital, Brentwood, Calif (Dr. Menkes); and the Department of Neurosciences (Drs. O'Brien and Okada), School of Medicine, University of California at San Diego, La Jolla, Calif.

Arch Neurol. 1971;25(1):14-22. doi:10.1001/archneur.1971.00490010024003

Morphological and chemical studies were performed on a cerebral biopsy in a patient with the clinical course of late infantile amaurotic idiocy. Accumulation of the Tay-Sachs ganglioside, GM2 (G5) was noted in both gray and white matter. Hexosaminidase A in serum and skin fibroblast cultures was reduced to 6.6% and 12% of total hexosaminidase activity, as contrasted with 57.3% and 49.0% in controls. On electron microscopic examination there was an accumulation of intraneuronal membranous cytoplasmic bodies, zebra bodies, other varieties of lipid bodies (including aggregates of the preceding types), and lipofuscin bodies. These findings indicate that the patient had juvenile GM2 gangliosidosis, a newly recognized GM2 ganglioside storage disease in which hexosaminidase A is partially active but apparently to an insufficient degree to prevent the slow evolution of neurological symptoms.