Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene.

doi:10.1212/wnl.47.2.547

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Article

Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene.

Neurology - 1 Aug 1996

De Gasperi R, Gama Sosa M A, Battistini S, Yeretsian J, Raghavan S, Zelnik N, Leshinsky E, Kolodny E H

Abstract excerpt

Late-onset GM2 gangliosidosis is a variant form of Tay-Sachs disease characterized by onset of symptoms and signs in adolescence or in early adult life. The deficiency of beta-hexosaminidase A (Hex A) in this form of GM2 gangliosidosis has been invariably associated with the presence of the Gly26...

Topics

Adult
Age of Onset
Female
G(M2) Ganglioside
Humans
Mutation
Polymerase Chain Reaction
Tay-Sachs Disease

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