[ XXXX in light of recent review].

@entity2315 @entity1 @entity154 @entity64 @entity16 @entity177 @entity2314 @entity15967 @entity1188 @entity158 @entity299 @entity123 @entity715 @entity1121 @entity16818 @entity3797 @entity10153
@entity2314 is a @entity2315 that is caused by mutations in the gene encoding a-galactosidase A on Xq22.1. Typically hemizygous male @entity1 exhibit classic phenotypes such as @entity15967 , acroparesthesias, @entity158 "crises," @entity3797 , and whorl-shaped corneal opacities from childhood. However, during adulthood, they gradually develop @entity177 , @entity299 , and @entity64 resulting in early death between 40 to 50 years of age. However, recent studies have indicated a high prevalence of disabling clinical symptoms in heterozygous females @entity1 . @entity1 having the cardiac variant of @entity2314 exhibit only left @entity123 , while @entity1 having the renal variant exhibit only @entity177 . Individuals affected by these variants show higher residual enzyme activity of @entity10153 than individuals affected by the classic form of @entity2314 due to missense mutations of the @entity10153 gene. The cerebrovascular involvement in @entity2314 is not rare in both adult hemizygotes and heterozygotes. @entity1188 caused by the occulsion of small vessels involving mostly the vertebrobasilar region in approximately two-thirds of the cases, and that is associated with the deposition glycoshingolipids including GL-3 in the walls of these vessels. In Caucasian @entity1 , elongated, ectatic, and tortuous vertebral and basilar arteries are frequently observed on MRAs. Life-threatening @entity154 with @entity715 has been identified in a large Hungarian family in which the family members share @entity16818 mutation. On performing MRI, an increased signal intensity was observed in the pulvinar in T1-weighted images; this is the characteristic so-called "pulvinar sign". Enzyme replacement therapy has been approved in Japan since 2004 and 2007 for agalsidase beta and agalsidase alpha, respectively. This treatment modestly improves the small-fiber @entity16 , @entity3797 , @entity1121 , and stabilizes the renal function in the long term for up to 54 months. However, it has not helped in decreasing the incidence of @entity64 .
