Neuronal storage diseases
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Tay-Sachs
More common in Jews
Hexosominidase A deficiency leads to accumulation of ganglioside GM2 in the brain and visceral organs
Neurons are distended and swollen by lysosomes that are full of these gangliosides
Classic feature is cherry red spot on macula
Neimann-Pick
Lack of sphingomyelinase leads to accumulation of sphingomyelin
Neurons distended by lysosomes full of sphingomyelin and C
Category: Pathology Notes
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