Immunohistochemical Demonstration of GM2-Ganglioside in the Central Nervous System of a 19-week-old Fetus of Tay-Sachs Disease

Tay-Sachs disease (TSD, McKusick 27275) is an inherited neurodegenerative disorder due to the deficiency of β-hexosaminidase A (EC 3.2.1.52), which causes the accumulation of GM2-ganglioside (GM2) in the central nervous system (CNS) of the patients (O’Brien, 1983), but it remains unknown exactly when and where GM2 begins to accumulate in the affected tissues. We have studied its distribution in the CNS of a TSD fetus and an age-matched control by an immunohistochemical method in conjunction with the distribution of sphingolipid activator protein (SAP)-1, myelin basic protein (MBP) and glial fibrillary acidic protein (GFAP).