The Central Nervous System Involvement in Fabry Disease: A Review

Abstract Fabry disease (FD) is an X-linked, lysosomal storage disorder caused by a mutation in the alpha galactosidase (GLA) gene leading to a deficiency in α-galactosidase A enzyme (α-Gal A) activity, which in turn results in accumulation of glycosphingolipids in different cells. The 2 major clinical phenotypes are the classic severe phenotype and the milder, later onset phenotype. In severe affected males with little or no α-Gal A activity, the onset of acroparesthesias, hypohidrosis, angiokeratomas, and corneal dystrophy is typically observed in childhood or adolescence. With advancing a...