| 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:
|
Clinical Correlation
GM2 gangliosidosis can be seen in infants, children,
and adults. Tay Sachs disease is the infantile form in
which the infants appear normal for a year or so then
regress mentally and neurologically until they become
vegetative and die of intercurrent infection.
|
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.
Search Medline at National Library of Medicine
Please be patient during transfer. Medline will open in a new window. To return, close the Medline Window
| Tay Sachs disease
| | Synopsis by: Dr ML Grunnet (TX2000D84500)[605]
| |