Gangliosidosis: A Brief Review Of Associated Neuropathology

Ganglioside Disease: Related neuropathological brief explanation Ganglioside disease is a lysosomal storage disease mainly affecting the nervous system. This disease is the result of an autosomal recessive mutation leading to a deficiency or deficiency of an important enzyme in ganglioside metabolism. Such defective enzymes depend on the type of mutation that causes GM1 or GM2 cancer glio video. The overall effect is similar, but each will be explained later.

GM 2 ganglioside gangliosides include Tay-Sachs disease and Sandhoff disease, particularly due to the lack of β-hexosaminidase activity in the CNS and lysine accumulation of GM 2 ganglioside. β-hexosaminidase has two isoforms A and B. ββ-hexosaminidase A is a trimeric protein consisting of 1α and 2β subunits and isoform B has 4 β subunits. Tay-Sachs disease is caused by a mutation in the alpha subunit resulting in the deficiency of β-β-hexosaminidase A, the most common storage disease causing macular cherry erythema (FIG. 83.1). It is an inherited autosomal recessive inheritance divided into infants, adolescents and adults. Infants are fatal neurodegenerative diseases with microcephaly, loss of motor skills, and increased panic response associated with neurodegeneration and optic atrophy. Juvenile onset is associated with ataxia, dementia and death of 10 to 15 years old

Three types of GM1 gangliosides classified in order of age of onset have been reported (1, 3, 4). Infant GM1 Ganglio Video (Type 1) is the most common and serious form with clinical signs of hypotension, failure to breed in neonatal period, and clonic seizures. Coarse features of the face, swelling of the frontal lobe, multiple osteoporosis, hepatosplenomegaly large and sacral cornea may appear or become obvious in the first year of birth (2). Infancy or early life (type 2) begins with progressive mental retardation and movement delay between 1 and 5 years of age. Stroke is a common one involving spastic quadriplegic episodes, cerebellar signs and extrapyramidal signs. Thereafter, severe hardening occurs between 3 and 10 years of age, usually caused by recurrent bronchopneumonitis. Type 2 brain GM1 ganglioside storage is not as good as type 1 disease (1, 2)