Blog Archives
Next-generation sequencing approach to hyperCKemia: a 2-year cohort study
Next-generation sequencing (NGS) was applied in molecularly undiagnosed asymptomatic or paucisymptomatic hyperCKemia to investigate whether this technique might allow detection of the genetic basis of the condition. Sixty-six patients with undiagnosed asymptomatic or paucisymptomatic hyperCKemia, referred to tertiary neuromuscular centers over an approximately 2-year period, were analyzed using a customized, targeted sequencing panel able to … [Read more]
Low-intensity running and high-intensity swimming exercises differentially improve energy metabolism in mice with mild spinal muscular atrophy
Spinal Muscular Atrophy (SMA), an autosomal recessive neurodegenerative disease characterized by the loss of spinal-cord motor-neurons, is caused by mutations on Survival-of-Motor Neuron (SMN)-1 gene. The expression of SMN2, a SMN1 gene copy, partially compensates for SMN1 disruption due to exon-7 excision in 90% of transcripts subsequently explaining the strong clinical heterogeneity. Several alterations in … [Read more]
LGMD type R26: the involvement of a Popeye domain protein is confirmed
Limb Girdle Muscular Dystrophies (or LGMD) constitute a very heterogeneous group of neuromuscular diseases both clinically and genetically. Their nomenclature underwent a major revision in 2018 to better take into account their genotypic diversity. LGMDs have in common an impairment of the musculature proximal to the pelvic and scapular girdles and evolve in a very … [Read more]
A phase 3 multicenter, prospective, open-label efficacy and safety study of IgIV in patients with Myasthenia gravis exacerbations
Myasthenia gravis (MG) is an autoimmune disorder affecting neuromuscular transmission. Exacerbations may involve increasing bulbar weakness and/or sudden respiratory failure, both of which can be critically disabling. Management of MG exacerbations includes plasma exchange and intravenous immunoglobulin (IVIG); they are equally effective, but patients experience fewer side effects with IVIG. The objective of this study … [Read more]
Safety and treatment effects of nusinersen in longstanding adult 5q-SMA Type 3, a prospective observational study
Spinal muscular atrophy (SMA) is a progressive autosomal recessive motor neuron disease caused by loss of the SMN1 gene. Based on randomized clinical trials in children with SMA type 1 and 2, Nusinersen has been approved as the first treatment for all types of SMA, including adults with SMA type 3. The authors evaluated the … [Read more]
Temporary reduction of membrane CD4 with the antioxidant MnTBAP is sufficient to prevent immune responses induced by gene transfer
Unexpectedly, the synthetic antioxidant MnTBAP was found to cause a rapid and reversible downregulation of CD4 on T cells in vitro and in vivo. This effect resulted from the internalization of membrane CD4 T cell molecules into clathrin-coated pits and involved disruption of the CD4/p56Lck complex. The CD4 deprivation induced by MnTBAP had functional consequences on CD4-dependent infectious processes … [Read more]
Risdiplam, on course for marketing authorisation in proximal spinal muscular atrophy
An application for marketing authorisation for risdisplam (RO7034067 ou RG7916), in the treatment of SMN1-related proximal spinal muscular atrophy (SMA) was submitted to the FDA (US Food and Drug Administration), by Roche and PTC Therapeutics, who are developing the product. Risdiplam is a small drug molecule administered orally that corrects SMN2 maturation to produce the … [Read more]
Long-term efficacy and safety of eculizumab in Japanese patients with generalized myasthenia gravis: A subgroup analysis of the REGAIN open-label extension study.
The terminal complement inhibitor eculizumab was shown to improve myasthenia gravis-related symptoms in the 26-week, phase 3, randomized, double-blind, placebo-controlled REGAIN study (NCT01997229). In this 52-week sub-analysis of the open-label extension of REGAIN (NCT02301624), eculizumab’s efficacy and safety were assessed in 11 Japanese and 88 Caucasian patients with anti-acetylcholine receptor antibody-positive refractory generalized myasthenia gravis. … [Read more]
MR fingerprinting for water T1 and fat fraction quantification in fat infiltrated skeletal muscles
The purpose of this study was to develop a fast MR fingerprinting (MRF) sequence for simultaneous estimation of water T1 (T1H2O ) and fat fraction (FF) in fat infiltrated skeletal muscles. The MRF sequence for T1H2O and FF quantification (MRF T1-FF) comprises a 1400 radial spokes echo train, following nonselective inversion, with varying echo and … [Read more]
Abnormal coagulation parameters are a common non-neuromuscular feature in patients with SMA
Hereditary proximal spinal muscular atrophy (SMA) is caused by survival motor neuron (SMN) protein deficiency due to homozygous loss of SMN1 gene function. Residual SMN protein levels are produced by the SMN2 gene and SMN protein is expressed ubiquitously. Its deficiency causes alpha motor neuron loss. Observations in animal models suggest other tissues, for example … [Read more]
