Educational objective: Tay-Sachs disease is an autosomal reces | Histology collection videos 2021

Educational objective: Tay-Sachs disease is an autosomal recessive disorder caused by [3-hexosaminidase A deficiency, which results in GM2 ganglioside accumulation. Key clinical features include progressive neurodegeneration and a cherry-red macular spot. In contrast to patients with Niemann-Pick disease, those with Tay Sachs disease have no hepatosplenomegaly.