Blog Archives
Pathogenic role of anti-SRP and anti-HMGCR antibodies in necrotising myopathies
Immune mediated necrotising myopathies (IMNM) may be associated with anti-SRP or anti-HMGCR antibodies and the titre of these antibodies is correlated with the disease activity. In this study, the investigators have examined the hypothesis that anti-SRP and anti-HMGCR antibodies may be involved in muscle damage. Muscle biopsies of patients were analysed for atrophy and regeneration, … [Read more]
Correlation between PABPN1 genotype and disease severity in OPMD
Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant adult-onset disease characterized by progressive ptosis, dysphagia, and proximal limb weakness. The genetic cause is an expanded (GCN)n mutation in the PABPN1 gene encoding for the polyadenylate-binding protein nuclear 1. Here, the authors hypothesised a potential correlation between the size of the (GCN)n expansion and the severity … [Read more]
SMA: SUNFISH trial begins at I-Motion
The SUNFISH trial, an international phase II study of the splice-modifying drug RO7034067 in people with type 2 or 3 spinal muscular atrophy (SMA), begins in France at I-Motion. The first French investigative centre of the SUNFISH trial has just opened: I-Motion is a paediatric clinical trial platform for neuromuscular diseases at the Institute of … [Read more]
The 30th Telethon edition reaches a final collection of 92,740,769 euros
On 2nd and 3rd December 2016, the Telethon enthralled the public throughout France. The final collection figure now allows us to pursue the objective we set ourselves 30 years ago : to find a cure ! The France Televisions networks join AFM-Telethon in expressing their thanks. Thanks to Garou, to our TV hosts Sophie Davant … [Read more]
Resistant myasthenia gravis and rituximab
This retrospective study evaluated the efficiency and tolerance of rituximab in the management of resistant myasthenia gravis (MG). Twenty-eight patients who received rituximab for the treatment of MG between 2004 and 2015 at Pitié-Salpétrière University Hospital (Paris, France) were included. The efficacy of rituximab was evaluated every 6 months by the myasthenic muscle score (MMS), … [Read more]
Linking Amyotrophic Lateral Sclerosis and Spinal Muscular Atrophy through RNA-transcriptome homeostasis
This review presents recent findings of key biomolecular processes that underlie two motor neuron degenerative disorders, Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA). It focusses on the role of four multifunctional proteins involved in RNA metabolism (TDP-43, FUS, SMN and Senataxin) that play a causal role in these diseases and the reported … [Read more]
Institute seminar – 27 March – Genevieve Gourdon (France)
DMSXL mouse model of myotonic dystrophy type 1: past, present and future Monday 27 March 2017 – 12:00-13:00 Genevieve Gourdon (Imagine Institute) Host : Denis Furling Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski Entrance 82 bd Vincent Auriol metro Chevaleret
Inflammatory myopathies: the interest of rehabilitation
Not only is functional rehabilitation during inflammatory myopathies beneficial in terms of inflammation, but it also appears to result in functional improvement. Rehabilitation has long been discouraged in inflammatory myopathies for fear of aggravating muscle inflammation. In an article published in November 2016, members of the Department of Internal Medicine and Clinical Immunology at the … [Read more]
Martine Barkats and Maria Grazia Biferi awarded the Avi Kremer ALS Treatment Prize from Prize4Life for their gene therapy approach
Martine Barkats and Maria Grazia Biferi have received the Avi Kremer ALS Treatment Prize from Prize4Life, which is committed to the fight against Amyotrophic Lateral Sclerosis (ALS*) and awards $1 million to the winners. Within the Myology Research Centre (MRC) of the Institute of Myology, the team “CNS Gene Transfer & Biotherapy of Motor Neuron … [Read more]
Novel synaptobrevin-1 mutation causes fatal congenital myasthenic syndrome
In this study, clinical electrophysiology studies, exome and Sanger sequencing were used to identify the molecular basis and elucidate the pathogenesis of a fatal congenital myasthenic syndrome. Clinical electrophysiology studies of the patient revealed several-fold potentiation of the evoked muscle action potential by high frequency nerve stimulation pointing to a presynaptic defect. Exome sequencing … [Read more]
