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 glycosphingoli...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.展开更多
The immunological aspects of autoantibodies directed against paranodal and nodal proteins form a prominent field of research.Contactin-1 and contactin-1 associated protein,gliomedin and neurofascin(NF)are Ranvier node...The immunological aspects of autoantibodies directed against paranodal and nodal proteins form a prominent field of research.Contactin-1 and contactin-1 associated protein,gliomedin and neurofascin(NF)are Ranvier node-related proteins[1,2].Antibodies against these proteins have been identified in chronic demyelinating conditions,such as multiple sclerosis(MS)and chronic inflammatory demyelinating polyradiculoneuropathy(CIDP);and in acute demyelinating diseases such as Guillain-Barre syndrome[3,4].Myelin and the paranodal axoglial junctions flanking the nodes of Ranvier are not merely passive transmitters of electric signals:instead,they have essential roles in maintaining the structural integrity of myelin-axolemmal interactions,bidirectional signaling and regulation of ion channels[5].展开更多
文摘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.
文摘The immunological aspects of autoantibodies directed against paranodal and nodal proteins form a prominent field of research.Contactin-1 and contactin-1 associated protein,gliomedin and neurofascin(NF)are Ranvier node-related proteins[1,2].Antibodies against these proteins have been identified in chronic demyelinating conditions,such as multiple sclerosis(MS)and chronic inflammatory demyelinating polyradiculoneuropathy(CIDP);and in acute demyelinating diseases such as Guillain-Barre syndrome[3,4].Myelin and the paranodal axoglial junctions flanking the nodes of Ranvier are not merely passive transmitters of electric signals:instead,they have essential roles in maintaining the structural integrity of myelin-axolemmal interactions,bidirectional signaling and regulation of ion channels[5].
