A systems approach identifies Enhancer of Zeste Homolog 2 (EZH2) as a protective factor in epilepsy.

Complex neurological conditions can give rise to large scale transcriptomic changes that drive disease progression. It is likely that alterations in one or a few transcription factors or cofactors underlie these transcriptomic alterations. Identifying the driving transcription factors/cofactors is a non-trivial problem and a limiting step in the understanding of neurological disorders.

Biotinidase deficiency: A treatable cause of opticospinal syndrome in young adults.

Diagnosis of biotinidase deficiency is rare and usually made in infancy, through newborn screening or after presenting symptoms. We present the case of 19-year old male with progressive optic atrophy and in a second phase spinal cord syndrome unresponsive to immunosuppressive therapies. After diagnosis of profound biotinidase deficiency, oral biotin substitution was started with partial visual improvement and normalization of gait.

IL-22, GM-CSF and IL-17 in peripheral CD4+ T cell subpopulations during multiple sclerosis relapses and remission. Impact of corticosteroid therapy.

Multiple sclerosis (MS) is thought to be a Th17-mediated dysimmune disease of the central nervous system. However, recent publications have questioned the pathogenicity of IL-17 per se and rather suggest the implication of other Th17-related inflammatory mediators. Therefore, we studied the expression of GM-CSF, IL-22, IL-24, IL-26 and CD39 in peripheral blood mononuclear cells (PBMCs) from MS patients during relapses, remission and following corticosteroid treatment.

Effectiveness and safety of natalizumab in real-world clinical practice: Review of observational studies.

Clinical trials have shown that natalizumab is highly effective for treating relapsing forms of multiple sclerosis (MS). The purpose of this analysis was to conduct a targeted review of data from country-specific observational studies and registries of natalizumab-treated patients with relapsing MS in order to more fully investigate the longer-term effectiveness and safety of this disease-modifying therapy in real-world clinical practice settings. A PubMed search was conducted on March 13, 2014, using the terms (natalizumab AND multiple sclerosis) AND (observational OR registry OR post-marketing OR clinical practice).