Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene

Abstract excerpt

Sandhoff disease is one of a group of autosomal recessive conditions known as the GM2 gangliosidoses. Normal breakdown of GM2 gangliosides is performed by the enzyme β-hexosaminidase A. This enzyme consists of 2 subunits (α and β), which are encoded by the HEXA and HEXB genes, respectively. Mutations in either of these genes result in buildup of the GM2 gangliosides, with HEXA mutations producing a phenotype of...

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