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Multiple Sclerosis Borderline
Inflammatory demyelinating diseases (IDDs), sometimes called Idiopathic (IIDDs) due to the unknown etiology of some of them, are a heterogenous group of demyelinating diseases - conditions that cause damage to myelin, the protective sheath of nerve fibers - that occur against the background of an acute or chronic inflammatory process. IDDs share characteristics with and are often grouped together under Multiple Sclerosis. They are sometimes considered different diseases from Multiple Sclerosis, but considered by others to form a spectrum differing only in terms of chronicity, severity, and clinical course. Multiple sclerosis for some people is a syndrome more than a single disease. As of 2019, three auto-antibodies have been found in atypical MS giving birth to separate diseases: Anti-AQP4 diseases, Anti-MOG and Anti-NF spectrums. A LHON-associated MS has also been reported, and in addition there have been inconclusive reports of TNF-α blockers inducing demyelinating disord ...
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Etiology
Etiology (pronounced ; alternatively: aetiology or ætiology) is the study of causation or origination. The word is derived from the Greek (''aitiología'') "giving a reason for" (, ''aitía'', "cause"); and ('' -logía''). More completely, etiology is the study of the causes, origins, or reasons behind the way that things are, or the way they function, or it can refer to the causes themselves. The word is commonly used in medicine (pertaining to causes of disease) and in philosophy, but also in physics, psychology, government, geography, spatial analysis, theology, and biology, in reference to the causes or origins of various phenomena. In the past, when many physical phenomena were not well understood or when histories were not recorded, myths often arose to provide etiologies. Thus, an etiological myth, or origin myth, is a myth that has arisen, been told over time or written to explain the origins of various social or natural phenomena. For example, Virgil's ''Aeneid'' is ...
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Autoimmune
In immunology, autoimmunity is the system of immune responses of an organism against its own healthy cells, tissues and other normal body constituents. Any disease resulting from this type of immune response is termed an "autoimmune disease". Prominent examples include celiac disease, post-infectious IBS, diabetes mellitus type 1, Henoch–Schönlein purpura (HSP) sarcoidosis, systemic lupus erythematosus (SLE), Sjögren syndrome, eosinophilic granulomatosis with polyangiitis, Hashimoto's thyroiditis, Graves' disease, idiopathic thrombocytopenic purpura, Addison's disease, rheumatoid arthritis (RA), ankylosing spondylitis, polymyositis (PM), dermatomyositis (DM), Alopecia Areata and multiple sclerosis (MS). Autoimmune diseases are very often treated with steroids. Autoimmunity means presence of antibodies or T cells that react with self-protein and is present in all individuals, even in normal health state. It causes autoimmune diseases if self-reactivity can lead to tissue ...
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Contactin 1
Contactin 1, also known as CNTN1, is a protein which in humans is encoded by the ''CNTN1'' 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. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. Interactions CNTN1 has been shown to interact with PTPRB Receptor-type tyrosine-protein phosphatase beta or VE-PTP is an enzyme specifically expressed in endothelial cells that in humans is encoded by the ''PTPRB'' gene. Function VE-PTP is a member of the classical protein tyrosine phosphatase (PTP .... References External links * * Further reading

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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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CIDP
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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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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Chronic Relapsing Inflammatory Optic Neuritis
Chronic relapsing inflammatory optic neuropathy (CRION) is a form of recurrent optic neuritis that is steroid responsive and dependent. Patients typically present with pain associated with visual loss. CRION is a clinical diagnosis of exclusion, and other demyelinating, autoimmune, and systemic causes should be ruled out. An accurate antibody test which became available commercially in 2017 has allowed most patients previously diagnosed with CRION to be re-identified as having MOG antibody disease, which is not a diagnosis of exclusion. Early recognition is crucial given risks for severe visual loss and because it is treatable with immunosuppressive treatment such as steroids or B-cell depleting therapy. Relapse that occurs after reducing or stopping steroids is a characteristic feature. Signs and symptoms Pain, visual loss, relapse, and steroid response are typical of CRION. Ocular pain is typical, although there are some cases with no reported pain. Bilateral severe visual l ...
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Encephalomyelitis
Encephalomyelitis is inflammation of the brain and spinal cord. Various types of encephalomyelitis include: * ''Acute disseminated encephalomyelitis'' or ''postinfectious encephalomyelitis'', a demyelinating disease of the brain and spinal cord, possibly triggered by viral infection. * ''Encephalomyelitis disseminata'', a synonym for multiple sclerosis. * ''AntiMOG associated encephalomyelitis'', one of the underlying conditions for the phenotype neuromyelitis optica and in general all the spectrum of MOG autoantibody-associated demyelinating diseases. * '' Eastern equine encephalitis'', ''Japanese encephalitis'', ''Venezuelan equine encephalitis'', and ''Western equine encephalitis'': a group of viral illnesses that can affect horses and humans; collectively termed ''Equine encephalitis''. * ''Experimental autoimmune encephalomyelitis'' (EAE), an animal model of brain inflammation. * Progressive encephalomyelitis with rigidity and myoclonus (PERM) – A kind of stiff person synd ...
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Myelin Oligodendrocyte Glycoprotein
Myelin oligodendrocyte glycoprotein (MOG) is a glycoprotein believed to be important in the myelination of nerves in the central nervous system (CNS). In humans this protein is encoded by the ''MOG'' gene. It is speculated to serve as a necessary "adhesion molecule" to provide structural integrity to the myelin sheath and is known to develop late on the oligodendrocyte. Molecular function While the primary molecular function of MOG is not yet known, its likely role with the myelin sheath is either in sheath "completion and/or maintenance". More specifically, MOG is speculated to be "necessary" as an "adhesion molecule" on the myelin sheath of the CNS to provide the structural integrity of the myelin sheath.Berger, T., Innsbruck Medical University Dept. of Neurology interviewed by S. Gillooly, Nov. 24, 2008." MOG's cDNA coding region in humans have been shown to be "highly homologous" to rats, mice, and bovine, and hence highly conserved. This suggests "an important biologica ...
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Anti-MOG Associated Encephalomyelitis
MOG antibody disease (MOGAD) or MOG antibody-associated encephalomyelitis (MOG-EM) is an inflammatory demyelinating disease of the central nervous system. Serum anti-myelin oligodendrocyte glycoprotein antibodies are present in up to half of patients with an acquired demyelinating syndrome and have been described in association with a range of phenotypic presentations, including acute disseminated encephalomyelitis, optic neuritis, transverse myelitis, and neuromyelitis optica. Presentation The clinical presentation is variable and largely dependent upon the overall clinical manifestation. The presence of anti-MOG autoantibodies has been described in association with the following conditions: * Seronegative neuromyelitis optica. * Acute disseminated encephalomyelitis, especially in recurrent and fulminant cases. * Multiple sclerosis. * Optic neuritis(including cases of CRION (chronic relapsing inflammatory optic neuropathy) * Transverse myelitis * Aseptic meningitis and meningoenc ...
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Tumefactive Multiple Sclerosis
Tumefactive multiple sclerosis is a condition in which the central nervous system of a person has multiple demyelinating lesions with atypical characteristics for those of standard multiple sclerosis (MS). It is called tumefactive as the lesions are "tumor-like" and they mimic tumors clinically, radiologically and sometimes pathologically. These atypical lesion characteristics include a large intracranial lesion of size greater than 2.0 cm with a mass effect, edema and an open ring enhancement. A mass effect is the effect of a mass on its surroundings, for example, exerting pressure on the surrounding brain matter. Edema is the build-up of fluid within the brain tissue. Usually, the ring enhancement is directed toward the cortical surface.Kaeser, M. A., Scali, F., Lanzisera, F. P., Bub, G. A., and Kettner, N. W. Tumefactive multiple sclerosis: an uncommon diagnostic challenge. ''Journal of Chiropractic Medicine'' 10:29-35 (2011). The tumefactive lesion may mimic a malignant ...
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Brainstem
The brainstem (or brain stem) is the posterior stalk-like part of the brain that connects the cerebrum with the spinal cord. In the human brain the brainstem is composed of the midbrain, the pons, and the medulla oblongata. The midbrain is continuous with the thalamus of the diencephalon through the tentorial notch, and sometimes the diencephalon is included in the brainstem. The brainstem is very small, making up around only 2.6 percent of the brain's total weight. It has the critical roles of regulating cardiac, and respiratory function, helping to control heart rate and breathing rate. It also provides the main motor and sensory nerve supply to the face and neck via the cranial nerves. Ten pairs of cranial nerves come from the brainstem. Other roles include the regulation of the central nervous system and the body's sleep cycle. It is also of prime importance in the conveyance of motor and sensory pathways from the rest of the brain to the body, and from the body back to t ...
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