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A freeze-fracture study on GM2 gangliosidosis.

Membranous cytoplasmic bodies (MCBs) in neurons from an autopsy case with Tay-Sachs disease were investigated using the freeze-fracture technique. Despite formalin fixation for months, the structures of storage material were well preserved and showed complex and compound MCBs with typical arrangement of lamellae. Each lamella consisted of a clear space of about 27 nm delimited on both sides by a small fracture line similar to plasma membranes as seen in electron micrographs of freeze-fracture studies. Our investigation shows that freeze-fracturing of autopsy material is a valuable method and can be performed on neuronal storage material.