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Article
December 1970

Electron Microscopy of Storage Cytosomes in Kufs' Disease

Author Affiliations

Morgantown, WVa
From the departments of pathology (neuropathology) and neurology, West Virginia University, School of Medicine, Morgantown, WVa. Dr. Thompson is now with the Department of Neurology, School of Medicine, University of Pennsylvania, Philadelphia.

Arch Neurol. 1970;23(6):489-501. doi:10.1001/archneur.1970.00480300011002
Abstract

THE FINDINGS of a deficiency of β-D-N-acetylhexosaminidase component A in Tay-Sachs disease1 and β-galactosidase in generalized gangliosidosis2 provide us a plausible explanation for different, GM1 and GM2, ganglioside accumulation in these diseases. Furthermore, the fact that these enzymes are localized in lysosomes sheds light as to why the stored lipoid materials are constantly associated with lysosomal or lipofuscin components of neurons on electron microscopy.3-10 It is conceivable that a deficiency of different enzymes involved in the catabolism of gangliosides may be involved in various clinical subtypes of amaurotic idiocy. As of this date, six clinical subtypes of amaurotic idiocy have been recognized: (1) congenital,11,12 (2) infantile,13,14 (3) late infantile,15,16 (4) systemic late infantile,17,18 (5) juvenile,19-21 and (6) adult.22

In 1925, Kufs22 described the first patient with the adult variety of Tay-Sachs disease whose neurologic symptoms started at

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