An autopsy case of Tay-Sachs disease--with special reference to axonal swellings of the central nervous system and freeze-fracture replication studies of the membranous cytoplasmic bodies.
The following is a report of the light and electron microscopic findings of the axonal swellings of the central nervous system and the freeze-fracture replication studies of the membranous cytoplasmic bodies in Tay-Sachs disease. The axonal swellings were observed mainly in the subthalamic nucleus, thalamus, globus pallidus, red nucleus, dentate nucleus, inferior olivary nucleus, nucleus gracilis, spinal anterior nucleus and so on. They contained many electron dense bodies and neurofilaments. Typical membranous cytoplasmic bodies were not seen in these axonal swellings. The freeze-fracture replication studies demonstrated that the membranous cytoplasmic bodies were composed of parallel stacks or concentric whorls of lamellae at an interval of 5 to 6 nm, with membrane-associated particles of 8 to 10 nm diameters on their protoplasmic face. It was postulated that the membranous cytoplasmic bodies constituted various compound lipids including the GM2-ganglioside and some proteins.
D001369:Axons / Q000473:pathology* / Q000648:ultrastructure; D002490:Central Nervous System / Q000473:pathology*; D002675:Child, Preschool; D003594:Cytoplasmic Granules / Q000648:ultrastructure*; D005260:Female; D005614:Freeze Fracturing; D006801:Humans; D007425:Intracellular Membranes / Q000648:ultrastructure*; D013661:Tay-Sachs Disease / Q000473:pathology*