Posts tagged: disorders

Brain Involvement in Neuromyelitis Optica Spectrum Disorders Koon Ho Chan, MD, FRCP; C. T. Tse, MBBS, MRCP; C.

Damage to the central nervous system can often result from the progression of an autoimmune disease. Demyelination often occurs as a result, where the myelin sheath on a neuron’s axons is destroyed due to excessive autoimmune responses (1).This destruction ultimately leads to lesions in the brain or spinal cord (2,3).The uncontrolled autoimmune responses can be primary, where the infiltrates begin the destruction of the myelin sheath, or secondary, where infiltrates respond to previous CNS damage and subsequently further the damage (4) . Multiple Sclerosis (MS) is the most noted example of a CNS demyelinating autoimmune disease (3,4), with 350,000-500,000 individuals currently diagnosed(3)

Dujmovic I, Mader S, Schanda K, Deisenhammer F, Stojsavljevic N, Kostic J, Berger T, Drulovic J, Reindl M? Temporal dynamics of cerebrospinal fluid anti-aquaporin-4 antibodies in patients with neuromyelitis optica spectrum disorders. [JOURNAL ARTICLE] J Neuroimmunol 2011?Feb?10. Neuromyelitis optica spectrum disorders (NMOSD) are associated with anti-aquaporin-4 autoantibodies (AQP4-IgG).

The astrocytic aquaporin-4 (AQP4) water channel is the target of pathogenic antibodies in a spectrum of relapsing autoimmune inflammatory central nervous system disorders of varying severity that is unified by detection of the serum biomarker neuromyelitis optica (NMO)-IgG. Neuromyelitis optica is the most severe of these disorders. The two major AQP4 isoforms, M1 and M23, have identical extracellular residues.

A multi-institutional research team has found that rare variants in the gene coding an enzyme that controls the activity of a key immune cell occur more frequently in individuals with autoimmune disorders like rheumatoid arthritis and type 1 diabetes. Their report, which will appear in the journal Nature and is receiving early online release, identifies a pathway that could be a therapeutic target and may present a model for future investigations of the role of rare gene variants in common disorders.

OBJECTIVE: To evaluate the degree of blood-brain barrier disruption in patients with neuromyelitis optica (NMO) and to clarify whether the levels of soluble intercellular adhesion molecule 1 (sICAM-1) and soluble vascular cell adhesion molecule 1 (sVCAM-1) in patients with NMO can be useful biomarkers for blood-brain barrier breakdown.

Background: Using an anti-aquaporin-4 (AQP4) antibody assay discovered in 2005, Japanese patients with neuromyelitis optica (NMO) can easily be differentially diagnosed from those with opticospinal multiple sclerosis (MS).

Since the discovery in 2004 of NMO-IgG, the autoantibody associated with neuromyelitis optica (NMO),1 neurologists are increasingly relying on the NMO-IgG test to rule in or rule out NMO. Related disorders like optic neuritis (ON), transverse myelitis (TM), acute disseminated encephalomyelitis (ADEM), and longitudinally extensive TM (LETM; 3 spinal cord vertebral segments) can all be monophasic or multiphasic, can occur together or individually, and can occur in adults or children. Similarly, multiple sclerosis (MS) is often confused with these disorders, especially early in the disease.

Background Neuromyelitis optica spectrum disorders (NMOSD) are severe central nervous system inflammatory demyelinating disorders (CNS IDD) characterized by monophasic or relapsing, longitudinally extensive transverse myelitis (LETM) and/or optic neuritis (ON). A significant proportion of NMOSD patients are seropositive for aquaporin-4 (AQP4) autoantibodies

Neuromyelitis optica (NMO; Devic’s disease) and the NMO spectrum disorders are idiopathic inflammatory demyelinating disorders that affect the central nervous system and have a predilection for optic nerves and spinal cord. The identification of NMO-IgG as a disease-specific marker and aquaporin 4 as the target antigen has renewed interest in NMO.

When Mrs G presented to the emergency room, clinical examination with transverse spinal cord syndrome, magnetic resonance imaging, and her complete clinical remission after plasmapheresis as well as lack of response to treatment pointed to longitudinally extensive transverse myelitis, representing an inaugural or limited form of neuromyelitis optica. The diagnosis was confirmed by detection of anti-aquaporin 4 (AQP4) antibodies.