Co-occurrence of multiple sclerosis and Thomsen's myotonia: a report of two cases.

Multiple sclerosis (MS) is a common demyelinating disease of the central nervous system in which an abnormal immune system response results in damage to the myelin sheaths surrounding nerves. The etiology of MS remains elusive, although it has been suggested to be influenced by both genetic and environmental factors. Here, we report two exceptional cases of patients affected by both MS and Thomsen's myotonia. Electromyography and MRI scans confirmed the presence of both diseases in the referred cases. Although the mechanisms underlying the co-occurrence of MS and Thomsen's disease are unclear, we have endeavored to offer plausible explanations for it.

The role of non-HLA single nucleotide polymorphisms in multiple sclerosis susceptibility.

Multiple sclerosis (MS) is the most common neurological disease of the central nervous system affecting young adults. While the etiology of the disease is still unknown, epidemiological and genetics studies have shown a significant inherited component involved in MS pathogenesis. Single nucleotide polymorphisms (SNPs) associated with MS have been recently evaluated by two main groups of high-throughput genotyping analyses: candidate gene approaches and genome-wide association studies (GWAS). Although both types of studies have identified polymorphisms in the human leukocyte antigen (HLA) region as the strongest susceptibility loci for MS, recent investigations have identified a broad spectrum of non-HLA genes prominently associated with MS. This review will focus on recent findings in non-HLA genes as well as their SNPs which have shown high linkage to MS as a genetic-based disorder. Understanding of non-HLA polymorphisms will help elucidate the signalling aberrations involved in MS development and may help to identify novel, personalized approaches to therapy.