Neuronal storage diseases

on 28.1.09 with 0 comments



  • 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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