CNS inflammatory demyelinating disorders: MS, NMOSD and MOG antibody associated disease.

Although Multiple Sclerosis is the most common central nervous system (CNS) inflammatory demyelinating disorder, other CNS inflammatory disorders should be included as diagnostic considerations. Neuromyelitis Optica Spectrum Disorder (NMOSD) and myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease are less common but share some clinical characteristics, such as optic neuritis and myelitis, which can make a specific diagnosis challenging. However, these disorders have distinctive and generally different clinical phenotypes, prognosis and management. It is imperative to distinguish each from one another, especially since the treatments (not discussed in this review) can be different. The advent of reliable testing for anti-aquaporin-4 for NMOSD and anti-MOG antibodies has helped significantly; however, diagnosis can remain challenging, especially in sero-negative cases. Clinical indicators are important to guide diagnostic work-up. Careful review of the history, neurological exam, imaging, and/or spinal fluid results are essential to making an accurate diagnosis. In this review, we will examine the clinical presentation, diagnosis, and natural history of these inflammatory CNS disorders.

Association of IL6ST (gp130) Polymorphism with Functional Outcome Following Spontaneous Intracerebral Hemorrhage.

BACKGROUND AND PURPOSE: Genes associated with the inflammatory response and cytostructural integrity may influence recovery following a brain injury. To examine this in the setting of spontaneous intracerebral hemorrhage (ICH), selected single nucleotide polymorphisms (SNPs) were assessed for associations with patient outcome. METHODS: A cohort of 54 patients with supratentorial ICH were enrolled. Based on known involvement with neuroinflammation and cytostructural integrity, 10 preselected SNPs from 6 candidate genes were tested for associations with 6-month functional outcome (modified Rankin Scale [mRS] ≥ 3), mortality, and in-hospital deterioration (Glasgow Coma Scale decrease by >2 within 7 days of admission) following ICH. Fisher's exact test and logistic regression with adjustment for race and ICH score were performed. RESULTS: SNP rs10940495 (gp130 G/A) within the gp130 gene was the only SNP significantly associated with lower odds of an unfavorable 6-month functional outcome (odds ratio = .16 for mRS ≥ 3; 95% confidence interval, .03-.87, P = .03). Compared with major allele (A) homozygotes, minor allele (G) carriers in the IL6 signal transducer gene (gp130) locus were 84% less likely to have a poor outcome (mRS ≥ 3) at 6 months following spontaneous ICH. The SNP rs10940495 (gp130 G/A) and SNP rs3219119 (PARP-1 A/T) were associated with 6-month mortality (P = .02 and .04, respectively) only on univariate analysis. None of the SNPs examined were associated with in-hospital deterioration. CONCLUSION: In this exploratory study, SNP rs10940495 in the gp130 locus was associated with functional outcome at 6 months following spontaneous ICH. These findings, which should be validated through a larger study, suggest that inflammation plays an important role in mediating outcomes after ICH.