This Article  • References  • Full text PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

S. M. Chou, MD, PhD; Hartwell G. Thompson, MD

Arch Neurol. 1970;23(6):489-501.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

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 . . . [Full Text PDF of this Article]

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.

Footnotes
Accepted for publication July 17, 1970.

Reprint requests to Department of Pathology (Neuropathology), West Virginia University School of Medicine, Morgantown, WVa 26506 (Dr. Chou).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?