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Tay Sachs disease
Etiology
Tay Sachs disease is an autosomally recessively inherited lysosomal storage disease due to loss of the lysosomal enzyme Hexosaminidase A.
Pathogenesis
Tay Sachs disease and other gangliosidoses lack the lysosomal enzymes which breakdown these lipids so they accumulate in neurons and astrocytes leading to loss of their function.,
Epidemiology
Tay Sachs disease is seen most often in Askenazi Jews who have a carrier rate of 1 in 10 whereas the usual carrier rate is 1 in 300 individuals. It is the infantile form of GM2 gangliosidosis.
General Gross Description
Tay Sachs disease brains may be normal insize or microcephalic or megalencephalic. The cortical ribbon is decreased in size and their is loss of demarcation between the grey and white matter.
•Examples:
General Microscopic Description
Microscopically Neurons are ballooned and foamy as are astocytes and macrophages. There is gradual loss of neurons with an astrocytosis. The neurons stain PAS positively. This is true of neurons through the CNS. On electron microscopy the cells are filled with rounded concentrically laminated bodies and lipofuscin.
•Examples:
Parkinson's Disease
References
1. Cotran, Kumar, and Robbins. Pathologic Basis of Disease 5th edition. pp 139-142. 2. Graham and Lantos. Greenfield's Neuropathology 1997. pp 658-662.

For Most Current Information Search Medline at National Library of Medicine
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Tay Sachs disease
Synopsis by: Dr ML Grunnet (TX2000D84500)[605]
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