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Biochemical and Ultrastructural Studies on a New Variant of Tay-Sachs Disease

John H. Menkes, MD; John S. O'Brien, MD; Shintaro Okada, MD; Jorge Grippo, MD; John M. Andrews, MD; Pasquale A. Cancilla, MD

Arch Neurol. 1971;25(1):14-22.

Abstract
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, G_M2 (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 G_M2 gangliosidosis, a newly recognized G_M2 ganglioside storage disease in which hexosaminidase A is partially active but apparently to an insufficient degree to prevent the slow evolution of neurological symptoms.

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.

Footnotes
Accepted for publication Dec 30, 1970.

Reprint requests to Department of Pediatrics, UCLA Center for the Health Sciences, Los Angeles 90024 (Dr. Menkes).

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