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Journal of Neuromuscular Diseases

Andrew D Posner, Jonathan H Soslow, W Bryan Burnette, Aihua Bian, Ayumi Shintani, Douglas B Sawyer, Larry W Markham
BACKGROUND: Duchenne muscular dystrophy (DMD) is characterized by progressive skeletal muscle and cardiac dysfunction. While skeletal muscle dysfunction precedes cardiomyopathy, the relationship between the progressive decline in skeletal and cardiac muscle function is unclear. This relationship is especially important given that the myocardial effects of many developing DMD therapies are largely unknown. OBJECTIVE: Our objective was to assess the relationship between progression of skeletal muscle weakness and onset of cardiac dysfunction in DMD...
2016: Journal of Neuromuscular Diseases
Peter M Burch, Oksana Pogoryelova, Richard Goldstein, Donald Bennett, Michela Guglieri, Volker Straub, Kate Bushby, Hanns Lochmüller, Carl Morris
BACKGROUND: Identifying translatable, non-invasive biomarkers of muscular dystrophy that better reflect the disease pathology than those currently available would aid the development of new therapies, the monitoring of disease progression and the response to therapy. OBJECTIVE: The goal of this study was to evaluate a panel of serum protein biomarkers with the potential to specifically detect skeletal muscle injury. METHOD: Serum concentrations of skeletal troponin I (sTnI), myosin light chain 3 (Myl3), fatty acid binding protein 3 (FABP3) and muscle-type creatine kinase (CKM) proteins were measured in 74 Duchenne muscular dystrophy (DMD), 38 Becker muscular dystrophy (BMD) and 49 Limb-girdle muscular dystrophy type 2B (LGMD2B) patients and 32 healthy controls...
September 2, 2015: Journal of Neuromuscular Diseases
Teresinha Evangelista, Mike Hanna, Hanns Lochmüller
Congenital myasthenic syndromes are a heterogeneous group of genetically determined disorders characterized by impaired neuromuscular transmission. They usually present from birth to childhood and are characterised by exercise induced weakness and fatigability. Genotype-phenotype correlations are difficult. However, in some patients particular phenotypic aspects may point towards a specific genetic defect. The absence of ptosis and ophthalmoparesis in patients with limb-girdle weakness makes the diagnosis of a neuromuscular transmission defect particularly challenging (LG-CMS)...
July 22, 2015: Journal of Neuromuscular Diseases
Matthew S Alexander, Louis M Kunkel
MicroRNAs (miRNAs) are small 21-24 nucleotide RNAs that are capable of regulating multiple signaling pathways across multiple tissues. MicroRNAs are dynamically regulated and change in expression levels during periods of early development, tissue regeneration, cancer, and various other disease states. Recently, microRNAs have been isolated from whole serum and muscle biopsies to identify unique diagnostic signatures for specific neuromuscular disease states. Functional studies of microRNAs in cell lines and animal models of neuromuscular diseases have elucidated their importance in contributing to neuromuscular disease progression and pathologies...
2015: Journal of Neuromuscular Diseases
Juliane S Müller, Michele Giunta, Rita Horvath
Defects of RNA metabolism have been increasingly identified in various forms of inherited neurological diseases. Recently, abnormal RNA degradation due to mutations in human exosome subunit genes has been shown to cause complex childhood onset neurological presentations including spinal muscular atrophy, pontocerebellar hypoplasia and myelination deficiencies. This paper summarizes our current knowledge about the exosome in human neurological disease and provides some important insights into potential disease mechanisms...
2015: Journal of Neuromuscular Diseases
Jeovanna Lowe, Andrew J Wodarcyk, Kyle T Floyd, Neha Rastogi, Eric J Schultz, Sarah A Swager, Jessica A Chadwick, Tam Tran, Subha V Raman, Paul M L Janssen, Jill A Rafael-Fortney
BACKGROUND: Angiotensin converting enzyme inhibitors (ACEi) are the current standard of care treatment for cardiac dysfunction in Duchenne muscular dystrophy patients. We previously showed treatment with an ACEi plus mineralocorticoid receptor (MR) antagonist improves limb and respiratory skeletal muscles, in addition to cardiac muscles, in a dystrophic mouse model at 20 weeks-of-age. OBJECTIVE: To determine whether previously observed preclinical benefits of an ACEi plus MR antagonist on dystrophic skeletal muscles can be reproduced by increasing ACEi dosage alone...
2015: Journal of Neuromuscular Diseases
Erik Landfeldt, Peter Lindgren, Christopher F Bell, Claude Schmitt, Michela Guglieri, Volker Straub, Hanns Lochmüller, Katharine Bushby
BACKGROUND: International care guidelines for Duchenne muscular dystrophy (DMD) were published in 2010, but compliance in clinical practice is unknown. OBJECTIVE: The objective of our study was to compare real-world DMD care in Germany, Italy, the UK, and the US with the clinical recommendations. METHODS: DMD patients from Germany, Italy, the UK, and the US were identified through Translational Research in Europe - Assessment & Treatment of Neuromuscular Diseases (TREAT-NMD) registries and invited with a caregiver to complete a questionnaire with questions regarding DMD-related healthcare...
2015: Journal of Neuromuscular Diseases
Adam L Moyer, Kathryn R Wagner
BACKGROUND: The transforming growth factor β (TGF-β) signaling pathways modulate skeletal muscle growth, regeneration, and cellular metabolism. Several recent gene expression studies have shown that inhibition of myostatin and TGF-β1 signaling consistently leads to a significant reduction in expression of Mss51, also named Zmynd17. The function of mammalian Mss51 is unknown although a putative homolog in yeast is a mitochondrial translational activator. OBJECTIVE: The objective of this work was to characterize mammalian Mss51...
2015: Journal of Neuromuscular Diseases
Stephen R Pfohl, Martin T Halicek, Cassie S Mitchell
BACKGROUND: The SOD1 G93A mouse model of amyotrophic lateral sclerosis (ALS) is the most frequently used model to examine ALS pathophysiology. There is a lack of homogeneity in usage of the SOD1 G93A mouse, including differences in genetic background and gender, which could confound the field's results. OBJECTIVE: In an analysis of 97 studies, we characterized the ALS progression for the high transgene copy control SOD1 G93A mouse on the basis of disease onset, overall lifespan, and disease duration for male and female mice on the B6SJL and C57BL/6J genetic backgrounds and quantified magnitudes of differences between groups...
2015: Journal of Neuromuscular Diseases
Jeffrey M Statland, Karen J Odrzywolski, Bharati Shah, Don Henderson, Alex F Fricke, Silvère M van der Maarel, Stephen J Tapscott, Rabi Tawil
BACKGROUND: Posited pathological mechanisms in Facioscapulohumeral Muscular Dystrophy (FSHD) include activation in somatic tissue of normally silenced genes, increased susceptibility to oxidative stress, and induction of apoptosis. OBJECTIVE: To determine the histopathological changes in FSHD muscle biopsies and compare to possible pathological mechanisms of disease. METHODS: We performed a cross-sectional study on quadriceps muscle biopsies from 32 genetically confirmed FSHD participants, compared to healthy volunteers and myotonic dystrophy type 1 as disease controls...
2015: Journal of Neuromuscular Diseases
Brandon B Gardner, Kayleigh A Swaggart, Gene Kim, Sydeaka Watson, Elizabeth M McNally
BACKGROUND: The muscular dystrophies target muscle groups differentially. In mouse models of muscular dystrophy, notably the mdx model of Duchenne Muscular Dystrophy, the diaphragm muscle shows marked fibrosis and at an earlier age than other muscle groups, more reflective of the histopathology seen in human muscular dystrophy. METHODS: Using a mouse model of limb girdle muscular dystrophy, the Sgcg mouse, we compared muscle pathology across different muscle groups and heart...
2015: Journal of Neuromuscular Diseases
Ozge Ceyhan-Birsoy, Beril Talim, Lindsay C Swanson, Mert Karakaya, Michelle A Graff, Alan H Beggs, Haluk Topaloglu
BACKGROUND: Congenital muscular dystrophies (CMDs) are a genetically and clinically heterogeneous group of neuromuscular disorders. Several genes encoding extracellular matrix, nuclear envelope, sarcolemmal proteins and glycosylation enzymes have been implicated in CMDs. The large overlap of clinical presentations due to mutations in different genes poses a challenge for clinicians in determining disease etiology for each patient. OBJECTIVE: We investigated the use of whole exome sequencing (WES) in identifying the genetic cause of disease in 5 CMD patients from 3 families who presented with highly similar clinical features, including early-onset rapidly progressive weakness without brain or eye abnormalities...
2015: Journal of Neuromuscular Diseases
Amina Chaouch, Vito Porcelli, Daniel Cox, Shimon Edvardson, Pasquale Scarcia, Anna De Grassi, Ciro L Pierri, Judith Cossins, Steven H Laval, Helen Griffin, Juliane S Müller, Teresinha Evangelista, Ana Töpf, Angela Abicht, Angela Huebner, Maja von der Hagen, Kate Bushby, Volker Straub, Rita Horvath, Orly Elpeleg, Jacqueline Palace, Jan Senderek, David Beeson, Luigi Palmieri, Hanns Lochmüller
BACKGROUND AND OBJECTIVE: Congenital myasthenic syndromes are rare inherited disorders characterized by fatigable weakness caused by malfunction of the neuromuscular junction. We performed whole exome sequencing to unravel the genetic aetiology in an English sib pair with clinical features suggestive of congenital myasthenia. METHODS: We used homozygosity mapping and whole exome sequencing to identify the candidate gene variants. Mutant protein expression and function were assessed in vitro and a knockdown zebrafish model was generated to assess neuromuscular junction development...
2014: Journal of Neuromuscular Diseases
Angela Pyle, Venkateswaran Ramesh, Marina Bartsakoulia, Veronika Boczonadi, Aurora Gomez-Duran, Agnes Herczegfalvi, Emma L Blakely, Tania Smertenko, Jennifer Duff, Gail Eglon, David Moore, Patrick Yu Wai Man, Konstantinos Douroudis, Mauro Santibanez-Koref, Helen Griffin, Hanns Lochmüller, Veronika Karcagi, Robert W Taylor, Patrick F Chinnery, Rita Horvath
BACKGROUND: Behr's syndrome is a classical phenotypic description of childhood-onset optic atrophy combined with various neurological symptoms, including ophthalmoparesis, nystagmus, spastic paraparesis, ataxia, peripheral neuropathy and learning difficulties. OBJECTIVE: Here we describe 4 patients with the classical Behr's syndrome phenotype from 3 unrelated families who carry homozygous nonsense mutations in the C12orf65 gene encoding a protein involved in mitochondrial translation...
2014: Journal of Neuromuscular Diseases
Eugene J Wyatt, H Lee Sweeney, Elizabeth M McNally
The New Directions in the Biology and Disease of Skeletal Muscle is a scientific meeting, held every other year, with the stated purpose of bringing together scientists, clinicians, industry representatives and patient advocacy groups to disseminate new discovery useful for treatment inherited forms of neuromuscular disease, primarily the muscular dystrophies. This meeting originated as a response the Muscular Dystrophy Care Act in order to provide a venue for the free exchange of information, with the emphasis on unpublished or newly published data...
January 1, 2014: Journal of Neuromuscular Diseases
Kay-Marie Lamar, Elizabeth M McNally
Neuromuscular diseases, which encompass disorders that affect muscle and its innervation, are highly heritable. Genetic diagnosis now frequently pinpoints the primary mutation responsible for a given neuromuscular disease. However, the results from genetic testing indicate that neuromuscular disease phenotypes may vary widely, even in individuals with the same primary disease-causing mutation. Clinical variability arises from both genetic and environmental factors. Genetic modifiers can now be identified using candidate gene as well as genomic approaches...
2014: Journal of Neuromuscular Diseases
Jeffrey Statland, Colleen M Donlin-Smith, Stephen J Tapscott, Silvere van der Maarel, Rabi Tawil
BACKGROUND: Recent studies have proposed a unified genetic model for Facioscapulohumeral muscular dystrophy (FSHD), identifying potential therapeutic targets for future clinical trials. Serum biomarkers related to disease activity will be important for proof of concept or early phase clinical studies. OBJECTIVE: To identify potential serum biomarkers in FSHD for possible use in future clinical trials. METHODS: We performed a prospective cross-sectional study of serum biomarkers in 22 FSHD patients (19 FSHD1, 3 FSHD2) compared to 23 age and gender-matched healthy controls using a commercial multiplex, microsphere-based immune-fluorescent assay of 243 markers (Myriad, Human Discovery MAP 250, v2...
2014: Journal of Neuromuscular Diseases
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