Neurological manifestations in Fabry disease  

作　　者：Joseph Bruno Bidin Brooks Yara Dadalti Fragoso 

机构地区：[1]Department of Neurology,Universidade Metropolitana de Santos,Rua da Constituicao 374,CEP 11015-470,Santos SP,Brazil

出　　处：《Neuroimmunology and Neuroinflammation》2016年第1期228-231,共4页神经免疫与神经炎症（英文版）

摘　　要：Fabry disease(FD)is a rare,progressive,multisystem and highly debilitating disease.FD is an X-linked lysosome storage disorder that results inα-galactosidase A deficiency.The subsequent accumulation of glycosphingolipids is more evident in vascular endothelium and smooth-muscle cells.The resulting effect of the deposition is generalized inflammation and vasculopathy,which can also affect the central and peripheral nervous system.FD progresses with kidney dysfunction,angiokeratoma of the skin,cardiomyopathy,cerebrovascular events and neurological disorders.In the present review,the neurological manifestations of FD are summarized with emphasis on cerebral vasculopathy,cochlear nerve dysfunction,psychiatric and cognitive symptoms,autonomic dysfunction and peripheral neuropathy.Enzyme replacement therapy is also discussed in the light of its more prominent effects when administered early in life,which make it essential to diagnose FD as soon as possible.

关 键 词：Fabry disease GLYCOSPHINGOLIPIDS α-galactosidase A enzyme replacement therapy NEUROLOGY 

分 类 号：R74[医药卫生—神经病学与精神病学]