Anti-neurofascin Demyelinating Diseases
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Anti-neurofascin Demyelinating Diseases
Anti-neurofascin demyelinating diseases (anti-NF diseases) refers to health conditions engendered by auto-antibodies against neurofascins, which can produce both central and peripheral demyelination. Some cases of combined central and peripheral demyelination (CCPD) could be produced by them. * Chronic inflammatory demyelinating polyneuropathy: Some cases of CIDP are reported to be produced by auto-antibodies against several neurofascin proteins. These proteins are present in the neurons and four of them have been reported to produce disease: NF186, NF180, NF166 and NF155. * Neuromyelitis optica: NF auto antibodies can also appear in NMO cases. These antibodies are more related to the peripheral nervous demyelination, but they were also found in NMO. * Multiple sclerosis: Also antibodies against Neurofascins NF-155 can also appear in atypical multiple sclerosis and NF-186 could be involved in subtypes of MS yielding an intersection between both conditions. Around 10% of MS cases are ...
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Auto-antibodies
An autoantibody is an antibody (a type of protein) produced by the immune system that is directed against one or more of the individual's own proteins. Many autoimmune diseases (notably lupus erythematosus) are associated with such antibodies. Production Antibodies are produced by B cells in two ways: (i) randomly, and (ii) in response to a foreign protein or substance within the body. Initially, one B cell produces one specific kind of antibody. In either case, the B cell is allowed to proliferate or is killed off through a process called clonal deletion. Normally, the immune system is able to recognize and ignore the body's own healthy proteins, cells, and tissues, and to not overreact to non-threatening substances in the environment, such as foods. Sometimes, the immune system ceases to recognize one or more of the body's normal constituents as "self," leading to production of pathological autoantibodies. Autoantibodies may also play a nonpathological role; for instance they m ...
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Neurofascin
Neurofascin is a protein that in humans is encoded by the ''NFASC'' gene. Function Neurofascin is an L1 family immunoglobulin cell adhesion molecule (see L1CAM) involved in axon subcellular targeting and synapse formation during neural development The development of the nervous system, or neural development (neurodevelopment), refers to the processes that generate, shape, and reshape the nervous system of animals, from the earliest stages of embryonic development to adulthood. The fie .... Clinical importance A homozygous mutation causing loss of Nfasc155 causes severe congenital hypotonia, contractures of fingers and toes and no reaction to touch or pain. References Further reading * * * * * * * * * * * * * Human proteins {{gene-1-stub ...
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Demyelination
A demyelinating disease is any disease of the nervous system in which the myelin sheath of neurons is damaged. This damage impairs the conduction of signals in the affected nerves. In turn, the reduction in conduction ability causes deficiency in sensation, movement, cognition, or other functions depending on which nerves are involved. Demyelinating diseases can be caused by genetics, infectious agents, autoimmune reactions, and other unknown factors. Proposed causes for demyelination include genetics and environmental factors such as being triggered by a viral infection or chemical exposure. Organophosphate poisoning by commercial insecticides such as sheep dip, weed killers, and flea treatment preparations for pets, can also result in nerve demyelination. Chronic neuroleptic exposure may cause demyelination. Vitamin B12 deficiency may also result in dysmyelination. Demyelinating diseases are traditionally classified in two kinds: demyelinating myelinoclastic diseases and dem ...
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Combined Central And Peripheral Demyelination
Chronic inflammatory demyelinating polyneuropathy (CIDP) is an acquired autoimmune disease of the peripheral nervous system characterized by progressive weakness and impaired sensory function in the legs and arms. The disorder is sometimes called chronic relapsing polyneuropathy (CRP) or chronic inflammatory demyelinating polyradiculoneuropathy (because it involves the nerve roots). CIDP is closely related to Guillain–Barré syndrome and it is considered the chronic counterpart of that acute disease. Its symptoms are also similar to progressive inflammatory neuropathy. It is one of several types of neuropathy. Types Several variants have been reported. Specially important are: * An asymmetrical variant of CIDP is known as Lewis-Sumner Syndrome. or MADSAM (multifocal acquired demyelinating sensory and motor neuropathy) * A variant with CNS involvement named combined central and peripheral demyelination (CCPD) Currently there is one special variant in which the CNS is also affect ...
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Chronic Inflammatory Demyelinating Polyneuropathy
Chronic inflammatory demyelinating polyneuropathy (CIDP) is an acquired autoimmune disease of the peripheral nervous system characterized by progressive weakness and impaired sensory function in the legs and arms. The disorder is sometimes called chronic relapsing polyneuropathy (CRP) or chronic inflammatory demyelinating polyradiculoneuropathy (because it involves the nerve roots). CIDP is closely related to Guillain–Barré syndrome and it is considered the chronic counterpart of that acute disease. Its symptoms are also similar to progressive inflammatory neuropathy. It is one of several types of neuropathy. Types Several variants have been reported. Specially important are: * An asymmetrical variant of CIDP is known as Lewis-Sumner Syndrome. or MADSAM (multifocal acquired demyelinating sensory and motor neuropathy) * A variant with CNS involvement named combined central and peripheral demyelination (CCPD) Currently there is one special variant in which the CNS is also affect ...
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Neuromyelitis Optica
Neuromyelitis optica spectrum disorders (NMOSD), including neuromyelitis optica (NMO), are autoimmune diseases characterized by acute inflammation of the optic nerve (optic neuritis, ON) and the spinal cord (myelitis). Episodes of ON and myelitis can be simultaneous or successive. A relapsing disease course is common, especially in untreated patients. In more than 80% of cases, NMO is caused by immunoglobulin G Autoantibody, autoantibodies to aquaporin 4 (anti-AQP4 diseases, anti-AQP4), the most abundant Aquaporin, water channel protein in the central nervous system. A subset of anti-AQP4-negative cases is associated with antibodies against myelin oligodendrocyte glycoprotein (Anti-MOG associated encephalomyelitis, anti-MOG). Rarely, NMO may occur in the context of other autoimmune diseases (e.g. Connective tissue disease, connective tissue disorders, paraneoplastic syndromes) or infectious diseases. In some cases, the etiology remains unknown (Idiopathic disease, idiopathic NMO). ...
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Multiple Sclerosis
Multiple (cerebral) sclerosis (MS), also known as encephalomyelitis disseminata or disseminated sclerosis, is the most common demyelinating disease, in which the insulating covers of nerve cells in the brain and spinal cord are damaged. This damage disrupts the ability of parts of the nervous system to transmit signals, resulting in a range of signs and symptoms, including physical, mental, and sometimes psychiatric problems. Specific symptoms can include double vision, blindness in one eye, muscle weakness, and trouble with sensation or coordination. MS takes several forms, with new symptoms either occurring in isolated attacks (relapsing forms) or building up over time (progressive forms). In the relapsing forms of MS, between attacks, symptoms may disappear completely, although some permanent neurological problems often remain, especially as the disease advances. While the cause is unclear, the underlying mechanism is thought to be either destruction by the immune system ...
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Neurofascin
Neurofascin is a protein that in humans is encoded by the ''NFASC'' gene. Function Neurofascin is an L1 family immunoglobulin cell adhesion molecule (see L1CAM) involved in axon subcellular targeting and synapse formation during neural development The development of the nervous system, or neural development (neurodevelopment), refers to the processes that generate, shape, and reshape the nervous system of animals, from the earliest stages of embryonic development to adulthood. The fie .... Clinical importance A homozygous mutation causing loss of Nfasc155 causes severe congenital hypotonia, contractures of fingers and toes and no reaction to touch or pain. References Further reading * * * * * * * * * * * * * Human proteins {{gene-1-stub ...
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Multiple Sclerosis
Multiple (cerebral) sclerosis (MS), also known as encephalomyelitis disseminata or disseminated sclerosis, is the most common demyelinating disease, in which the insulating covers of nerve cells in the brain and spinal cord are damaged. This damage disrupts the ability of parts of the nervous system to transmit signals, resulting in a range of signs and symptoms, including physical, mental, and sometimes psychiatric problems. Specific symptoms can include double vision, blindness in one eye, muscle weakness, and trouble with sensation or coordination. MS takes several forms, with new symptoms either occurring in isolated attacks (relapsing forms) or building up over time (progressive forms). In the relapsing forms of MS, between attacks, symptoms may disappear completely, although some permanent neurological problems often remain, especially as the disease advances. While the cause is unclear, the underlying mechanism is thought to be either destruction by the immune system ...
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Contactin 2
Contactin-2 is a protein that in humans is encoded by the ''CNTN2'' gene. Function The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. It may also be involved in glial tumorigenesis and may provide a potential target for therapeutic intervention. Interactions CNTN2 has been shown to interact with CNTNAP2 and NFYB Nuclear transcription factor Y subunit beta is a protein that in humans is encoded by the ''NFYB'' gene. Function The protein encoded by this gene is one subunit of a trimeric complex, forming a highly conserved transcription factor that bind .... References External links * Further reading

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