An analysis of the neurodegenerative ailment including its discovery, etiology, biochemistry, carriers and mutations.
Written in 1993; 1,350 words; 6 sources; $ 47.95
From the Paper:
"Tay.Sachs Disease
Tay.Sachs disease is one of the few neurodegenerative diseases of known cause (1:419). It results from a lysosomal storage disorder involving a defect in the hexosaminidase enzyme system causing the accumulation of sphingolipids (4:143.147).
The disease was first described by Warren Tay and Bernard Sachs about 100 years ago (3:189). It belongs to a group of diseases..the GM2 gangliosidoses..which, although they result from separate genetic mutations, each of which shares characteristics in common with the others (3:189). One of these characteristics is that all of the diseases are inherited by the autosomal recessive mode of transmission (4:143); another is that each results from a biochemical deficiency in the hydrolysis of GM2 ganglioside cells of the central and peripheral nervous..."
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