Search results for "multiple sclerosis"

Food of the Gods for the Treatment of Multiple Sclerosis Related Fatigue?

2019

In their JNNP paper, Coe et al report the preliminary results of a feasibility trial on flavonoid enriched cocoa for the treatment of multiple sclerosis (MS) related fatigue, showing promising results that encourage the conduction of a phase III clinical trial to confirm the results of possible clinical effects on MS related fatigue.1 As described in the paper,1 fatigue is the most common symptom reported by individuals affected by MS, affecting the majority of patients. It is often present even when neurological disability is low and in the early stages of the disease, but impacts significantly the quality of life in MS patients, diminishing independence in everyday activities. Fatigue sym…

Wavefront invasion for a chemotaxis model of Multiple Sclerosis

2016

In this work we study wavefront propagation for a chemotaxis reaction-diffusion system describing the demyelination in Multiple Sclerosis. Through a weakly non linear analysis, we obtain the Ginzburg–Landau equation governing the evolution of the amplitude of the pattern. We validate the analytical findings through numerical simulations. We show the existence of traveling wavefronts connecting two different steady solutions of the equations. The proposed model reproduces the progression of the disease as a wave: for values of the chemotactic parameter below threshold, the wave leaves behind a homogeneous plaque of apoptotic oligodendrocytes. For values of the chemotactic coefficient above t…

The Usefulness of Optical Coherence Tomography in Disease Progression Monitoring in Younger Patients with Relapsing-Remitting Multiple Sclerosis: A S…

2022

The purpose of the study was to assess the usefulness of optical coherence tomography (OCT) in the detection of the neurodegenerative process in younger patients with multiple sclerosis (MS). The study group consisted of 61 patients with a relapsing remitting course of MS (mean age 36.4 ± 6.7 years) divided into two groups: short (≤5 years) and long (>10 years) disease duration. OCT, P300 evoked potential, Montreal Cognitive Assessment, and performance subtests (Picture Completion and Digit Symbol) of the Wechsler Adult Intelligence Scale were performed in all patients. Mean values of most parameters assessed in OCT (pRNFL Total, pRNFL Inferior, pRNFL Superior, pRNFL Temporalis, mRNFL, G…

CD45 and multiple sclerosis: the exon 4 C77G polymorphism (additional studies and meta-analysis) and new markers

2003

We re-evaluated the association with multiple sclerosis (MS) of the C77G splicing regulatory variation in the CD45 gene and screened for new mutations the three alternatively spliced exons (#4, 5 and 6). No association with C77G was detected in two groups of patients (total=448) and controls (total=559) from Northern and Southern Italy. When excluding the first published study indicating a positive association, a meta-analysis of the five further studies conducted to date (including the present one) led to a non-significant combined odds ratio (OR) of 1.11. None of the four newly identified nucleotide substitutions, namely C77T (Pro59Pro) in exon 4, G69C (Asp121His) in exon 5, T127A (Ile187…

Low frequency and rare coding variation contributes to multiple sclerosis risk

2018

AbstractMultiple sclerosis is a common, complex neurological disease, where almost 20% of risk heritability can be attributed to common genetic variants, including >230 identified by genome-wide association studies (Patsopoulos et al., 2017). Multiple strands of evidence suggest that the majority of the remaining heritability is also due to the additive effects of individual variants, rather than epistatic interactions between these variants, or mutations exclusive to individual families. Here, we show in 68,379 cases and controls that as much as 5% of this heritability is explained by low-frequency variation in gene coding sequence. We identify four novel genes driving MS risk independe…

Bypassing hazard of housekeeping genes: their evaluation in rat granule neurons treated with cerebrospinal fluid of multiple sclerosis subjects

2015

Gene expression studies employing real-time PCR has become an intrinsic part of biomedical research. Appropriate normalization of target gene transcript(s) based on stably expressed housekeeping genes is crucial in individual experimental conditions to obtain accurate results. In multiple sclerosis (MS), several gene expression studies have been undertaken, however, the suitability of housekeeping genes to express stably in this disease is not yet explored. Recent research suggests that their expression level may vary under different experimental conditions. Hence it is indispensible to evaluate their expression stability to accurately normalize target gene transcripts. The present study ai…

Corrigendum to “Linkage disequilibrium screening for multiple sclerosis implicates JAG1 and POU2AF1 as susceptibility genes in Europeans” [J. Neuroim…

2007

Genome-wide significant association with seven novel multiple sclerosis risk loci

2015

Objective A recent large-scale study in multiple sclerosis (MS) using the ImmunoChip platform reported on 11 loci that showed suggestive genetic association with MS. Additional data in sufficiently sized and independent data sets are needed to assess whether these loci represent genuine MS risk factors. Methods The lead SNPs of all 11 loci were genotyped in 10 796 MS cases and 10 793 controls from Germany, Spain, France, the Netherlands, Austria and Russia, that were independent from the previously reported cohorts. Association analyses were performed using logistic regression based on an additive model. Summary effect size estimates were calculated using fixed-effect meta-analysis. Results…

2014

Multiple Sclerosis (MS) is the most common auto-inflammatory disease of the central nervous system, affecting more than 2 million individuals worldwide. It is a genetically complex disease, in which a substantial part of a person's liability to develop MS is caused by a combination of multiple genetic and non-genetic (e.g. environmental) risk factors. Increasing this complexity, many of the involved risk factors likely interact in an intricate and hitherto ill-defined fashion. Despite these complexities, and owing greatly to the advent and application of large-scale genome-wide association studies, our understanding of the genetic factors underlying MS etiology has begun to gain unprecedent…

Class II HLA interactions modulate genetic risk for multiple sclerosis

2015

Association studies have greatly refined the understanding of how variation within the human leukocyte antigen (HLA) genes influences risk of multiple sclerosis. However, the extent to which major effects are modulated by interactions is poorly characterized. We analyzed high-density SNP data on 17,465 cases and 30,385 controls from 11 cohorts of European ancestry, in combination with imputation of classical HLA alleles, to build a high-resolution map of HLA genetic risk and assess the evidence for interactions involving classical HLA alleles. Among new and previously identified class II risk alleles (HLA-DRB1*15:01, HLA-DRB1*13:03, HLA-DRB1*03:01, HLA-DRB1*08:01 and HLA-DQB1*03:02) and cla…