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Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial
Publication date: Available online 15 October 2018Source: The Lancet NeurologyAuthor(s): Christopher Grunseich, Ram Miller, Therese Swan, David J Glass, Mohamed El Mouelhi, Mara Fornaro, Olivier Petricoul, Igor Vostiar, Ronenn Roubenoff, Matthew N Meriggioli, Angela Kokkinis, Robert D Guber, Maher S Budron, John Vissing, Gianni Soraru, Tahseen Mozaffar, Albert Ludolph, John T Kissel, Kenneth H Fischbeck, Christopher GrunseichSummaryBackgroundSpinal and bulbar muscular atrophy is an X-linked neuromuscular disease caused by CAG repeat expansion in the androgen receptor gene. Patients with this disease have low concentrations...
Source: The Lancet Neurology - October 16, 2018 Category: Neurology Source Type: research

Congenital muscular dystrophies
To determine the minimal clinically important difference (MCID) for the motor function measure (MFM-32) in congenital muscular dystrophy and congenital myopathy patient an observational, retrospective, multicentric study was conducted on 85 congenital muscular dystrophy or congenital myopathy patients, aged 5 to 22 years at the national institute of neurological disorders and stroke of the national institutes of health and 2 French departments of paediatric physical medicine and rehabilitation. Data were collected if at least 2 MFMs were performed (MFM1 and MFM2) within 8 to 36 months of each other and if during MFM2 paren...
Source: Neuromuscular Disorders - September 6, 2018 Category: Neurology Authors: L. Le Goff, M. Fink, G. Norato, P. Rippert, K. Meilleur, A.R. Foley, M. Jain, M. Waite, S. Donkervoort, C. B önnemann, C. Vuillerot Source Type: research

Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study
Publication date: Available online 5 April 2018 Source:The Lancet Author(s): Roope Männikkö, Leonie Wong, David J Tester, Michael G Thor, Richa Sud, Dimitri M Kullmann, Mary G Sweeney, Costin Leu, Sanjay M Sisodiya, David R FitzPatrick, Margaret J Evans, Iona J M Jeffrey, Jacob Tfelt-Hansen, Marta C Cohen, Peter J Fleming, Amie Jaye, Michael A Simpson, Michael J Ackerman, Michael G Hanna, Elijah R Behr, Emma Matthews Background Sudden infant death syndrome (SIDS) is the leading cause of post-neonatal infant death in high-income countries. Central respiratory system dysfunction seems to contribute to these deaths. Excita...
Source: The Lancet - April 7, 2018 Category: General Medicine Source Type: research

Influenza A Virus Infection Damages Zebrafish Skeletal Muscle and Exacerbates Disease in Zebrafish Modeling Duchenne Muscular Dystrophy
DISCUSSION Here, we investigated the effects of an infectious disease on skeletal muscle tissue alone and in combination with a genetic muscle disease. We found that human IAV can infect zebrafish muscle fibers and cause fiber damage via loss of sarcolemma integrity and/or loss of ECM adhesion external to the sarcolemma. Additionally, we showed that molecular and cellular markers of inflammation are present in muscle tissue in response to IAV infection. Finally, we showed that an infectious disease in combination with a genetic muscle disease greatly worsens the severity of muscle tissue degeneration. Taken together, our r...
Source: PLOS Currents Muscular Dystrophy - October 25, 2017 Category: Neurology Authors: Clarissa Henry Source Type: research

Researchers identify potential treatment for type of muscle and brain degenerative disease
In fruit flies modeled with IBMPFD disease, mitochondria (red circles) are severely disrupted. Treatment of VCP inhibitors in these diseased flies reversed  mitochondrial damage (green circles). FINDINGSUCLA researchers have discovered the molecular basis of, and identified potential treatment for, an incurable disease known as inclusion body myopathy, Paget disease with frontotemporal dementia, or IBMPFD. Using both genetically engineered fruit flies that have the fly equivalent of the disease gene as well as cells from people with IBMPFD, the researchers discovered how mutations carried by those with IBMPFD cause cellu...
Source: UCLA Newsroom: Health Sciences - March 21, 2017 Category: Universities & Medical Training Source Type: news

Blood-Based Assay for the Diagnosis and Monitoring of Hyposialylation Disorders
Sialic acid, a monosaccharide widely distributed in glycoproteins and glycolipids, plays an important role in biological processes such as cellular adhesion, cellular communication and signal transduction. Reduced levels of sialic acid in tissues (also known as hyposialylation) affect the function of muscle, kidney, and other organ systems, and are found in a number of disorders, such as hereditary inclusion body myopathy (HIBM, also known as GNE myopathy), renal hyposialylation disorders, and congenital disorders of glycosylation.The inventors have developed a sensitive, reliable assay for the diagnosis of hyposialylation...
Source: NIH OTT Licensing Opportunities - August 22, 2013 Category: Research Authors: ajoyprabhu3 Source Type: research