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Spinal Muscle Atrophy

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https://www.readbyqxmd.com/read/28729373/the-importance-of-managing-the-patient-and-not-the-gene-expanded-phenotype-of-gle1-associated-arthrogryposis
#1
Queenie K-G Tan, Allyn McConkie-Rosell, Jane Juusola, Kathryn E Gustafson, Carolyn E Pizoli, Anne F Buckley, Yong-Hui Jiang
GLE1 encodes a protein important for mRNA export and appears to play roles in translation initiation and termination as well. Pathogenic variants in GLE1 mutations have been associated with lethal contracture syndrome (LCCS1) and Lethal Arthrogryposis with Anterior Horn Cell Disease (LAAHD); phenotypes reported in individuals include fetal akinesia and a severe form of motor neuron disease, typically presenting with prenatal symptoms and perinatal lethality. In this paper, we identified bi-allelic missense mutations in GLE1 by trio whole exome sequencing (WES) in an individual affected with congenital motor weakness and contractures as well as feeding and respiratory difficulties...
July 20, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28728573/splicing-arrays-reveal-novel-rbm10-targets-including-smn2-pre-mrna
#2
Leslie C Sutherland, Philippe Thibault, Mathieu Durand, Elvy Lapointe, Jose M Knee, Ariane Beauvais, Irina Kalatskaya, Sarah C Hunt, Julie J Loiselle, Justin G Roy, Sarah J Tessier, Gustavo Ybazeta, Lincoln Stein, Rashmi Kothary, Roscoe Klinck, Benoit Chabot
BACKGROUND: RBM10 is an RNA binding protein involved in message stabilization and alternative splicing regulation. The objective of the research described herein was to identify novel targets of RBM10-regulated splicing. To accomplish this, we downregulated RBM10 in human cell lines, using small interfering RNAs, then monitored alternative splicing, using a reverse transcription-PCR screening platform. RESULTS: RBM10 knockdown (KD) provoked alterations in splicing events in 10-20% of the pre-mRNAs, most of which had not been previously identified as RBM10 targets...
July 20, 2017: BMC Molecular Biology
https://www.readbyqxmd.com/read/28709751/does-muscle-atrophy-and-fatty-infiltration-plateau-or-persist-in-chronic-spinal-cord-injury
#3
Cameron D Moore, B Catharine Craven, Lehana Thabane, Alexandra Papaioannou, Jonathan D Adachi, Lora M Giangregorio
Atrophy and fatty infiltration of lower extremity muscle after spinal cord injury (SCI) predisposes individuals to metabolic syndrome and related diabetes and cardiovascular disease. The objective of this study was to prospectively measure changes in muscle atrophy and fat content of distal lower extremity muscles and explore related factors in a cohort of adults with chronic SCI and diverse impairments. Muscle cross-sectional area and density were calculated from peripheral quantitative computed tomography scans of the 66% site of the calf from 70 participants with chronic SCI (50 male, mean age 49 years, C2-T12, American Spinal Injury Association Impairment Scale A-D) at study enrollment and annually for 2 years...
July 11, 2017: Journal of Clinical Densitometry
https://www.readbyqxmd.com/read/28688959/from-gene-to-therapy-in-spinal-and-bulbar-muscular-atrophy-are-we-there-yet
#4
REVIEW
Maria Pennuto, Carlo Rinaldi
Abnormal polyglutamine expansions in the androgen receptor (AR) cause a muscular condition, known as Kennedy's disease or spinal and bulbar muscular atrophy (SBMA). The disease is transmitted in an X-linked fashion and is clinically characterized by weakness, atrophy and fasciculations of the limb and bulbar muscles as a result of a toxic gain-of-function of the mutant protein. Notably, affected males also show signs of androgen insensitivity, such as gynaecomastia and reduced fertility. The characterization of the natural history of the disease, the increasing understanding of the mechanism of pathogenesis and the elucidation of the functions of normal and mutant AR have offered a momentum for developing a rational therapeutic strategy for this disease...
July 5, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28680390/the-role-of-the-heat-shock-protein-b8-hspb8-in-motoneuron-diseases
#5
REVIEW
Paola Rusmini, Riccardo Cristofani, Mariarita Galbiati, Maria E Cicardi, Marco Meroni, Veronica Ferrari, Giulia Vezzoli, Barbara Tedesco, Elio Messi, Margherita Piccolella, Serena Carra, Valeria Crippa, Angelo Poletti
Amyotrophic lateral sclerosis (ALS) and spinal and bulbar muscular atrophy (SBMA) are two motoneuron diseases (MNDs) characterized by aberrant protein behavior in affected cells. In familial ALS (fALS) and in SBMA specific gene mutations lead to the production of neurotoxic proteins or peptides prone to misfold, which then accumulate in form of aggregates. Notably, some of these proteins accumulate into aggregates also in sporadic ALS (sALS) even if not mutated. To prevent proteotoxic stresses detrimental to cells, misfolded and/or aggregated proteins must be rapidly removed by the protein quality control (PQC) system...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28668232/effect-of-salbutamol-on-respiratory-muscle-strength-in-spinal-muscular-atrophy
#6
Sonia Khirani, Ivana Dabaj, Alessandro Amaddeo, Jorge Olmo Arroyo, Jacques Ropers, Stéphane Tirolien, Véronique Coudert, Brigitte Estournet, Brigitte Fauroux, Susana Quijano-Roy
BACKGROUND: Oral salbutamol has shown clinical benefits in spinal muscular atrophy (SMA). We studied its effect on the respiratory muscle strength in children with different types of SMA. METHODS: Lung and respiratory muscle functions were assessed in children receiving daily oral salbutamol for at least one year. The respiratory data of age-matched SMA II historical control subjects were compared with data of SMA II patients receiving salbutamol. RESULTS: Seven children (6...
August 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28645604/posterior-paramedian-approach-to-a-ventrally-located-spinal-meningioma
#7
Han Soo Chang
BACKGROUND: To approach a ventral spinal pathology, a lateral viewing angle is often required. However, lateral approaches to the spine are usually more technically demanding and require certain amount of surgical expertise. In this report, we describe a simple and easy technique to obtain the lateral viewing angle to the ventral spinal pathology. CASE DESCRIPTION: The technique is demonstrated in a ventrally located meningioma at C2 level. Axial magnetic resonance imaging (MRI) showed a square posterior shift of the spinal cord with little lateral space, which necessitated a more lateral viewing angle than the conventional posterior approach...
June 20, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28644430/the-clinical-landscape-for-sma-in-a-new-therapeutic-era
#8
REVIEW
K Talbot, E F Tizzano
Despite significant advances in basic research, the treatment of degenerative diseases of the nervous system remains one of the greatest challenges for translational medicine. The childhood onset motor neuron disorder spinal muscular atrophy (SMA) has been viewed as one of the more tractable targets for molecular therapy, due to a detailed understanding of the molecular genetic basis of the disease. In SMA, inactivating mutations in the SMN1 gene can be partially compensated for by limited expression of SMN protein from a variable number of copies of the SMN2 gene, which provides both a molecular explanation for phenotypic severity and a target for therapy...
June 23, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28637335/astrocyte-produced-mir-146a-as-a-mediator-of-motor-neuron-loss-in-spinal-muscular-atrophy
#9
Samantha L Sison, Teresa N Patitucci, Emily R Seminary, Eric Villalon, Christian L Lorson, Allison D Ebert
Spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, is caused by loss of the survival motor neuron-1 (SMN1) gene, which leads to motor neuron loss, muscle atrophy, respiratory distress, and death. Motor neurons exhibit the most profound loss, but the mechanisms underlying disease pathogenesis are not fully understood. Recent evidence suggests that motor neuron extrinsic influences, such as those arising from astrocytes, contribute to motor neuron malfunction and loss. Here we investigated both loss-of-function and toxic gain-of-function astrocyte mechanisms that could play a role in SMA pathology...
June 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28635954/phenotypic-extremes-of-bicd2-opathies-from-lethal-congenital-muscular-atrophy-with-arthrogryposis-to-asymptomatic-with-subclinical-features
#10
Markus Storbeck, Beate Horsberg Eriksen, Andreas Unger, Irmgard Hölker, Ingvild Aukrust, Lilian A Martínez-Carrera, Wolfgang A Linke, Andreas Ferbert, Raoul Heller, Matthias Vorgerd, Gunnar Houge, Brunhilde Wirth
Heterozygous variants in BICD cargo adapter 2 (BICD2) cause autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 (SMALED2). The disease is usually characterized by a benign or slowly progressive, congenital or early onset muscle weakness and atrophy that mainly affects the lower extremities, although some affected individuals show involvement of the arms and the shoulder girdle. Here we report unusual extremes of BICD2-related diseases: A severe form of congenital muscular atrophy with arthrogryposis multiplex, respiratory insufficiency and lethality within four months...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28634552/inherited-paediatric-motor-neuron-disorders-beyond-spinal-muscular-atrophy
#11
REVIEW
Hooi Ling Teoh, Kate Carey, Hugo Sampaio, David Mowat, Tony Roscioli, Michelle Farrar
Paediatric motor neuron diseases encompass a group of neurodegenerative diseases characterised by the onset of muscle weakness and atrophy before the age of 18 years, attributable to motor neuron loss across various neuronal networks in the brain and spinal cord. While the genetic underpinnings are diverse, advances in next generation sequencing have transformed diagnostic paradigms. This has reinforced the clinical phenotyping and molecular genetic expertise required to navigate the complexities of such diagnoses...
2017: Neural Plasticity
https://www.readbyqxmd.com/read/28624897/corrosion-of-harrington-rod-in-idiopathic-scoliosis-long-term-effects
#12
Beth Sherman, Tanya Crowell
PURPOSE: Metal implants have been used to treat adolescent idiopathic scoliosis since the 1960s. Only recently, however, it has the issue of metal-bone breakdown secondary to metal corrosion in situ come to light, raising concerns of possible long-term complications from the resulting metallosis and inflammation of spinal tissues. We present a case of a patient with neurological deficit, pain, and disability with Harrington rod in place for over 30 years, to bring attention to the issue of bio-corrosion of metal implants and its effect on human tissue...
June 17, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28620838/modelling-fus-mislocalisation-in-an-in-vitro-model-of-innervated-human-muscle
#13
Sonja Prpar Mihevc, Mojca Pavlin, Simona Darovic, Marko Živin, Matej Podbregar, Boris Rogelj, Tomaz Mars
Degeneration of distal axons and neuromuscular junctions is an early feature in the pathology of amyotrophic lateral sclerosis (ALS), which culminates in motor neuron loss due to axon retraction and muscle atrophy. The complex interactions in the pathogenesis of ALS between motor neurons, muscle cells and accompanying glia require an appropriate experimental model. Here, we have defined a co-culture model based on human myotubes innervated by neurons from embryonic rat spinal cord explants to investigate the pathology and treatment of ALS...
June 15, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28606400/autosomal-dominant-distal-myopathy-due-to-a-novel-acta1-mutation
#14
Teerin Liewluck, Eric J Sorenson, Magdalena A Walkiewicz, Kandelaria M Rumilla, Margherita Milone
Mutations in skeletal muscle α-actin 1-encoding gene (ACTA1) cause autosomal dominant or recessive myopathies with marked clinical and pathological heterogeneity. Patients typically develop generalized or limb-girdle pattern of weakness, but recently a family with scapuloperoneal myopathy was reported. We describe a father and 2 children with childhood-to-juvenile onset distal myopathy, carrying a novel dominant ACTA1 variant, c.757G>C (p.Gly253Arg). Father had delayed motor development and developed significant proximal weakness later in life; he was initially misdiagnosed as having spinal muscular atrophy based on electromyographic findings...
May 5, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28599613/immunohistochemical-analysis-of-canine-and-feline-muscle-disorders-using-formalin-fixed-paraffin-embedded-tissues
#15
Takanori Shiga, Kazuyuki Uchida, James K Chambers, Hiroyuki Nakayama
Histochemical techniques used in examination of muscle biopsies typically require frozen sections. Given that most of the specimens submitted to a veterinary laboratory for diagnosis are formalin-fixed, the choice of staining methods is limited. We aimed to further advance the diagnostic capabilities of pathologists presented with formalin-fixed muscle samples and to describe the differences in immunohistopathologic findings between neurogenic and myogenic muscle disorders. Based on hematoxylin and eosin staining, we defined in dogs the histologic lesions in 4 neurogenic disorders (degenerative myelopathy and polyneuropathy) and 2 myogenic disorders (dystrophin-deficient muscular dystrophy)...
June 1, 2017: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/28594869/compound-heterozygous-mutations-in-glycyl-trna-synthetase-gars-cause-mitochondrial-respiratory-chain-dysfunction
#16
Michael Nafisinia, Lisa G Riley, Wendy A Gold, Kaustuv Bhattacharya, Carolyn R Broderick, David R Thorburn, Cas Simons, John Christodoulou
Glycyl-tRNA synthetase (GARS; OMIM 600287) is one of thirty-seven tRNA-synthetase genes that catalyses the synthesis of glycyl-tRNA, which is required to insert glycine into proteins within the cytosol and mitochondria. To date, eighteen mutations in GARS have been reported in patients with autosomal-dominant Charcot-Marie-Tooth disease type 2D (CMT2D; OMIM 601472), and/or distal spinal muscular atrophy type V (dSMA-V; OMIM 600794). In this study, we report a patient with clinical and biochemical features suggestive of a mitochondrial respiratory chain (MRC) disorder including mild left ventricular posterior wall hypertrophy, exercise intolerance, and lactic acidosis...
2017: PloS One
https://www.readbyqxmd.com/read/28588757/identification-of-neuron-selective-androgen-receptor-inhibitors
#17
Maya Otto-Duessel, Ben Yi Tew, Steven Vonderfecht, Roger Moore, Jeremy O Jones
AIM: To identify neuron-selective androgen receptor (AR) signaling inhibitors, which could be useful in the treatment of spinal and bulbar muscular atrophy (SBMA), or Kennedy's disease, a neuromuscular disorder in which deterioration of motor neurons leads to progressive muscle weakness. METHODS: Cell lines representing prostate, kidney, neuron, adipose, and muscle tissue were developed that stably expressed the CFP-AR-YFP FRET reporter. We used these cells to screen a library of small molecules for cell type-selective AR inhibitors...
May 26, 2017: World Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28586096/spinal-cord-multi-parametric-magnetic-resonance-imaging-for-survival-prediction-in-amyotrophic-lateral-sclerosis
#18
G Querin, M M El Mendili, T Lenglet, S Delphine, V Marchand-Pauvert, H Benali, P-F Pradat
BACKGROUND AND PURPOSE: Assessing survival is a critical issue in patients with amyotrophic lateral sclerosis (ALS). Neuroimaging seems to be promising in the assessment of disease severity and several studies also suggest a strong relationship between spinal cord (SC) atrophy described by magnetic resonance imaging (MRI) and disease progression. The aim of the study was to determine the predictive added value of multimodal SC MRI on survival. METHODS: Forty-nine ALS patients were recruited and clinical data were collected...
August 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28578003/generating-level-dependent-models-of-cervical-and-thoracic-spinal-cord-injury-exploring-the-interplay-of-neuroanatomy-physiology-and-function
#19
Jared T Wilcox, Kajana Satkunendrarajah, Yasmin Nasirzadeh, Alex M Laliberte, Alyssa Lip, David W Cadotte, Warren D Foltz, Michael G Fehlings
The majority of spinal cord injuries (SCI) occur at the cervical level, which results in significant impairment. Neurologic level and severity of injury are primary endpoints in clinical trials; however, how level-specific damages relate to behavioural performance in cervical injury is incompletely understood. We hypothesized that ascending level of injury leads to worsening forelimb performance, and correlates with loss of neural tissue and muscle-specific neuron pools. A direct comparison of multiple models was made with injury realized at the C5, C6, C7 and T7 vertebral levels using clip compression with sham-operated controls...
May 31, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28562381/respiratory-involvement-in-neuromuscular-disorders
#20
Matthias Boentert, Stephan Wenninger, Valeria A Sansone
PURPOSE OF REVIEW: In numerous neuromuscular disorders (NMDs), respiratory muscle weakness is present, and acute or chronic respiratory failure may evolve. Very often, respiratory involvement substantially adds to the burden of disease, impairs quality of life, or reduces life expectancy. This article summarizes new aspects of both diagnosis and management of respiratory muscle weakness in patients with NMDs. RECENT FINDINGS: Drugs like deflazacort, ataluren, eteplirsen, and nusinersen are now approved treatments for Duchenne Muscular Dystrophy and Spinal Muscular Atrophy, and others are on their way in NMDs...
May 29, 2017: Current Opinion in Neurology
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