Tay-Sachs disease in Jacob sheep.

  title={Tay-Sachs disease in Jacob sheep.},
  author={Paola A. Torres and Bai Jin Zeng and Brian F. Porter and Joseph Alroy and Fred Horak and Joan Horak and Edwin H. Kolodny},
  journal={Molecular genetics and metabolism},
  volume={101 4},
Autopsy studies of four Jacob sheep dying within their first 6-8 months of a progressive neurodegenerative disorder suggested the presence of a neuronal storage disease. Lysosomal enzyme studies of brain and liver from an affected animal revealed diminished activity of hexosaminidase A (Hex A) measured with an artificial substrate specific for this component of β-hexosaminidase. Absence of Hex A activity was confirmed by cellulose acetate electrophoresis. Brain lipid analyses demonstrated the… CONTINUE READING