Sandhoff disease: ganglioside GMand asialo-GM2accumulation in the cerebrospinal fluid

In an earlier investigation it was found that ganglioside GM2 the typical neuronal storage product in GMz-gangliosidosis, was accumulated also in the cerebrospinal fluid (CSF) of a Tay-Sachs patient. The asialo derivative of ganglioside GM2, GM2, which is a concomitant storage product in the brain of these patients, was not detected in the CSF of the patient investigated (BERNHEIMER, 1968). In the present account, a report is made on the accumulation of ganglioside GM2 and of GM2 in the CSF of a patient affected by Sandhoff disease.