Blog Archives
Acquisition of a high-performance confocal microscope at the Institute – Interview with B. Cadot
Bruno Cadot, a researcher in Marc Bitoun’s team at the Myology Centre for Research, has successfully acquired a new confocal microscope for the institute. Eighteen months elapsed between the first applications for funding and installation. Since its inauguration last month, researchers and clinicians have been lining up to use it. What happened during those … [Read more]
Frequency of the c.130dupG CHRNE mutation in Brazilian patients with CMS
The most common causes of congenital myasthenic syndromes (CMS) are CHRNE mutations, and some pathogenic allelic variants in this gene are especially frequent in certain ethnic groups. In the southern region of Brazil, a study found the c.130dupG CHRNE mutation in up to 33% of families with CMS. Here, the authors aimed to verify … [Read more]
Correction of glycogen storage disease type III with AAV vectors
Glycogen storage disease type III (GSDIII) is an autosomal recessive disorder caused by a deficiency of glycogen-debranching enzyme (GDE), which results in profound liver metabolism impairment and muscle weakness. To date, no cure is available for GSDIII and current treatments are mostly based on diet. Here, the authors describe the development of a mouse … [Read more]
The FSHD functional composite outcome measure
The authors of this study have developed an evaluator-administered functional facioscapulohumeral muscular dystrophy composite outcome measure (FSHD-COM) comprised of patient-identified areas of functional burden for future clinical trials. The FSHD-COM includes functional assessment of the legs, shoulders and arms, trunk, hands, and balance/mobility. In a prospective observational study of 41 FSHD participants, they determined … [Read more]
DMD care considerations update: Part 1
Since the publication of the Duchenne muscular dystrophy (DMD) care considerations in 2010, multidisciplinary care of this severe, progressive neuromuscular disease has evolved. In conjunction with improved patient survival, a shift to more anticipatory diagnostic and therapeutic strategies has occurred, with a renewed focus on patient quality of life. In 2014, a steering committee … [Read more]
Immune-mediated necrotizing myopathies: time to update the pathologic criteria?
This study aimed to characterise muscle fibre necrosis in immune-mediated necrotizing myopathies (IMNM) with anti-signal recognition particle (SRP) or anti-3-hydroxy-3-methylglutarylcoenzyme A reductase (HMGCR) antibodies and to explore its underlying molecular immune mechanisms. The results showed that creatine kinase levels and muscle regeneration correlated with the proportion of necrotic fibers (r = 0.6, p < … [Read more]
Anti-NT5C1A autoantibodies are associated with more severe disease in patients with juvenile myositis
Autoantibodies recognising cytosolic 5′-nucleotidase 1A (NT5C1A) are found in adult patients with myositis and other autoimmune diseases. They are especially prevalent in adults with inclusion body myositis (IBM), in which they are associated with more severe weakness and higher mortality. This study was undertaken to define the prevalence and clinical features associated with anti-NT5C1A … [Read more]
The benefits and tolerance of exercise in myasthenia gravis
Research exploring the effects of physical exercise in auto-immune myasthenia gravis (MG) is scarce. The few existing studies present methodological shortcomings limiting the conclusions and generalisability of results. It is hypothesised that exercise could have positive physical, psychological as well as immunomodulatory effects and may be a beneficial addition to current pharmacological management of … [Read more]
Institute seminar – February 19th – Matteo Bovolenta (France)
Pre-clinical development of gene editing – therapeutic strategies for neglected mutations Monday February 19th 2018 – 12:00 Matteo Bovolenta (Genethon, France) Host : Vincent Mouly Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski Entrance 82 bd Vincent Auriol metro Chevaleret
Passive transfer models of myasthenia gravis with muscle-specific kinase antibodies
Myasthenia gravis (MG) with antibodies to muscle-specific kinase (MuSK) is characterized by fluctuating fatigable weakness. In MuSK MG, involvement of bulbar muscles, neck, and shoulder and respiratory weakness are more prominent than in acetylcholine receptor (AChR) MG. MuSK autoantibodies are mainly of the IgG4 subclass, and as such are unable to activate complement, have … [Read more]
