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Tay-Sachs disease is a rare autosomal recessive condition that results from a mutation in HEX-A gene on chromosome 15 that leads to GM2 ganglioside build up within lysosomes in the neurons of CNS resulting in progressive symptoms of CNS degeneration including visual problems, hypotonia and seizures.
By nucleotides_bioscienceTay-Sachs disease is a rare autosomal recessive condition that results from a mutation in HEX-A gene on chromosome 15 that leads to GM2 ganglioside build up within lysosomes in the neurons of CNS resulting in progressive symptoms of CNS degeneration including visual problems, hypotonia and seizures.