Drs. Horst Jatzkewitz, Hartmut Pilz, and Konrad Sandhoff first noticed Sandhoff disease in Germany in 1965. Initially these men were studying the biochemistry of different enzymes and found an exceptional case of Tay-Sachs. These men classified Sandhoff as an abnormal Tay-Sachs disease, and published their findings in the Journal of Neurochemistry.
In 1968 Konrad Sandhoff, U. Andreae, and Horst Jatzkewitz further discussed the disease in the journal Life Sciences. Konrad Sandhoff is given the most credit for the discovery of the disease and is currently researching biochemical and enzymatic aspects of the gangliosidoses and other lysosomal storage diseases.