Spinocerebellar degeneration: hexosaminidase A and B deficiency in two adult sisters.
Two adult sisters had spinocerebellar degeneration. Biochemical studies revealed a very low activity of both fraction A and fraction B of the lysosomal enzyme, hexosaminidase, in serum and leukocytes. A skin biopsy showed lesions suggestive of neuronal storage disease. The disorder seems to be an adult form of GM2 gangliosidosis.
D000293:Adolescent; D000328:Adult; D001369:Axons / Q000473:pathology; D002526:Cerebellar Diseases / Q000201:enzymology* / Q000235:genetics / Q000473:pathology; D005260:Female; D006596:Hexosaminidases / Q000172:deficiency* / Q000378:metabolism; D006801:Humans; D012497:Sandhoff Disease / Q000201:enzymology / Q000235:genetics; D013118:Spinal Cord Diseases / Q000201:enzymology* / Q000235:genetics / Q000473:pathology
D006596:Hexosaminidases