The clinical symptoms of this disease are identical to Sandhoff's disease.
It is not Gaucher's disease, but N-butyl-deoxy-nojiri-mycin successfully treated this condition in mice. It is also not malaria, but pyrimethamine treatment increases the prognosis of patients suffering from the late-onset form of this disease. A G444R missense mutation in the cDNA of a gene in Jacob sheep has been linked to this condition in humans. The clinical symptoms of this disease are identical to Sandhoff's disease. It is caused by a deficiency of the beta-hexaminidase A enzyme, preventing lysosomes from degrading GM2 gangliosides. For 10 points, name this disease which presents with a cherry-red spot in the retina.
It is not Gaucher's disease, but N-butyl-deoxy-nojiri-mycin successfully treated this condition in mice.
Tay-Sachs disease [or GM2 gangliosidosis before mention, or hexosaminidase A deficiency before mention]