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GM2 gangliosidosis (Tay-Sachs disease) is a prototypical lysosomal storage disease first described in people in the 19th century. Defects in the ß-hexosaminidase A enzyme lead to the accumulation of GM2 ganglioside within lysosomes, particularly within the central nervous system. The disease is characterised by widespread and relentless neurodegeneration with variable onset and severity related to the degree of enzyme deficiency.
Naturally occurring GM2 gangliosidosis has been described in several species of domesticated and wild animals and has recently been reported in Jacob sheep from North America (Torres and others 2010, Porter and others …
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