Search results for " Demyelination"

A "kissing lesion": In-vivo 7T evidence of meningeal inflammation in early multiple sclerosis

2017

Background: The role of cortical lesions (CLs) in disease progression and clinical deficits is increasingly recognized in multiple sclerosis (MS); however the origin of CLs in MS still remains unclear. Objective: Here, we report a para-sulcal CL detected two years after diagnosis in a relapsing-remitting MS (RRMS) patient without manifestation of clinical deficit. Methods: Ultra-high field (7T) MR imaging using magnetization-prepared 2 rapid acquisition gradient echoes (MP2RAGE) sequence was performed. Results: A para-sulcal CL was detected which showed hypointense rim and iso- to hyperintense core. This was detected in the proximity of the leptomeninges in the left precentral gyrus extendi…

Sural nerve biopsy studies in leigh's subacute necrotizing encephalomyelopathy

1986

Peripheral neuropathy marked by reduced nerve conduction velocities was found in four unrelated children, between the ages of 15 months and 9 years, whose autopsies revealed Leigh's subacute necrotizing encephalomyelopathy. Sural nerve biopsies disclosed primary demyelination and remyelination, as well as loss of myelinated and unmyelinated axons. The use of morphometric and electron microscopic studies shows that these techniques may reveal peripheral neuropathy in Leigh's disease more often than light microscopic methods alone.

Disease-modifying drugs can reduce disability progression in relapsing multiple sclerosis

2020

Abstract An ever-expanding number of disease-modifying drugs for multiple sclerosis have become available in recent years, after demonstrating efficacy in clinical trials. In the real-world setting, however, disease-modifying drugs are prescribed in patient populations that differ from those included in pivotal studies, where extreme age patients are usually excluded or under-represented. In this multicentre, observational, retrospective Italian cohort study, we evaluated treatment exposure in three cohorts of patients with relapsing-remitting multiple sclerosis defined by age at onset: paediatric-onset (≤18 years), adult-onset (18–49 years) and late-onset multiple sclerosis (≥50 years). We…

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

2019

See Karakaya and Wirth (doi:10.1093/brain/awz273) for a scientific commentary on this article. Neurofascin (NFASC) isoforms are immunoglobulin cell adhesion molecules involved in node of Ranvier assembly. Efthymiou et al. identify biallelic NFASC variants in ten unrelated patients with a neurodevelopmental disorder characterized by variable degrees of central and peripheral involvement. Abnormal expression of Nfasc155 is accompanied by severe loss of myelinated fibres.

P23. Large demyelinating lesion of the pons as a cause of a locked-in syndrome in multiple sclerosis

2007

Heat Shock Proteins in Multiple Sclerosis Pathogenesis: Friend or Foe?

2015

Multiple Sclerosis is a complex chronic inflammatory, neurodegenerative disease conditioned by genetic, epigenetic and environmental factors. Main pathological features of MS include areas of focal demyelination of white matter characterized by gliosis, neuron and oligodendrocyte loss. Neurodegenerative as well as immune-mediated processes play a role in the pathogenesis of this disease. One of these immunogenic factors could be represented by the heat shock proteins. HSP exhibit cytoprotective and cytostimulatory effects due to their molecular chaperones role, in many brain model misfolding diseases such as Alzheimer’s and Parkinson’s diseases, whereas still no unambiguous results have bee…