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GM1 Gangliosidosis: Phenotypic variation in a single family

✍ Scribed by Dr. Donald F. Farrell; Ute Ochs

Publisher
John Wiley and Sons
Year
1981
Tongue
English
Weight
564 KB
Volume
9
Category
Article
ISSN
0364-5134

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✦ Synopsis

Infantile, juvenile, and adult forms of G M 1 gangliosidosis have been well characterized. Certain genetic and biochemical studies have suggested that the phenotypic variation found in G,, gangliosidosis results from different allelic mutations affecting the G,, ganglioside p-galactosidase locus and that different combinations of these mutations account for the clinical heterogeneity of this illness. A family in which both the infantile and juvenile forms of G,, gangliosidosis occurred, the children sharing a common mutation of their acid P-galactosidase activity, supports the allelic nature of these different clinical forms of the disease. From the observations made in this unique family, additional phenotypes of G,, gangliosidosis might be anticipated. Farrell DF, Ochs U: G,, gangliosidosis: phenotypic variation in a single family. Ann Neurol 9:225-231, 1981 G M l gangliosidosis is a rare lysosomal storage disease that results from inability to hydrolyze P-D-galactose catabolically from GM, ganglioside, the major monosialoganglioside of brain. The first report of a deficiency of acid P-galactosidase activity in G M 1 gangliosidosis was provided by Sacrez et a1 [281 in

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