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"Spinal Muscular Atrophy"

Kimberly K Long, Karen M O'Shea, Ramzi J Khairallah, Kelly Howell, Sergey Paushkin, Karen S Chen, Shaun M Cote, Micah T Webster, Joseph P Stains, Erin Treece, Alan Buckler, Adriana Donovan
Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by loss of α-motor neurons, leading to profound skeletal muscle atrophy. Patients also suffer from decreased bone mineral density and increased fracture risk. The majority of treatments for SMA, approved or in clinic trials, focus on addressing the underlying cause of disease, insufficient production of full-length SMN protein. While restoration of SMN has resulted in improvements in functional measures, significant deficits remain in both mice and SMA patients following treatment...
November 27, 2018: Human Molecular Genetics
Michael Ioerger, Reed M Flanders, Katherine D Goss, Margaret A Turk
BACKGROUND: The varied use of the term "disability" in the scientific literature makes it challenging to conduct systematic reviews of health issues among people with disability. Utilizing general disability search terms has been suggested as an efficient way to ensure a broad capture of the literature related to disability. OBJECTIVES: This study evaluates the utility of general disability terms versus condition-specific terms, in the context of systematically searching for articles related to disability and other conditions or issues, in this case, opioid use...
November 15, 2018: Disability and Health Journal
Claudia D Wurster, Benedikt Winter, Kurt Wollinsky, Albert C Ludolph, Zeljko Uzelac, Simon Witzel, Michael Schocke, Ralf Schneider, Tugrul Kocak
Spinal muscular atrophy is a genetic motor neuron disease that leads to progressive muscular atrophy and muscle weakness. In December 2016, the Food and Drug Administration, and in June 2017, the European Medicines Agency approved the antisense oligonucleotide nusinersen for treatment of spinal muscular atrophy. Nusinersen has to be repeatedly administered intrathecally. Due to the clinical features of SMA, the application of the ASO by lumbar puncture can be challenging in symptomatic patients considering the frequently observed scoliosis, previous spine fusion surgeries, joint contractures, and respiratory insufficiency...
November 20, 2018: Journal of Neurology
Jorn Vogel, Annette Hagengruber
Injuries, accidents, strokes, and other diseases can significantly degrade the capabilities to perform even the most simple activities in daily life. While assistive technology becomes more and more available to the people affected, there is still a big need for user interfaces suitable for people without functional hand movement. A large share of these cases involves neuromuscular diseases, which lead to severely reduced muscle function. However, even though affected people are no longer able to functionally move their limbs, residual muscle function can still be existent...
July 2018: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
Annette Hagengruber, Jorn Vogel
For paralyzed people activities of daily living like eating or drinking are impossible without external assistance. Robotic assistance systems can give these people a part of their independence back. Especially if the operation with a joystick is not possible anymore due to a missing hand function, people need innovative interfaces to control assistive robots in 3D. Besides brain computer interfaces an approach based on surface electromyography (sEMG) can present an opportunity for people with a strong muscular atrophy...
July 2018: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
Hannah Aura Shoval, Esther Antelis, Andrew Hillman, Xiaofang Wei, Patricia Tan, Ruth Alejandro, Heakyung Kim
OBJECTIVE: The aim of the study was to investigate the safety and efficacy of onabotulinum toxin A injection to the salivary glands under ultrasound guidance for the treatment of sialorrhea in patients with spinal muscular atrophy type I. DESIGN: Prospective case series with four patients with spinal muscular atrophy type I who received onabotulinum toxin A injection to parotid and submandibular glands for sialorrhea as part of clinical care. All four patients received validated surveys for measuring drooling, including objective measures of number of bib changes, and number of mouth wipes before injection and 4-6 wks after injection...
December 2018: American Journal of Physical Medicine & Rehabilitation
Jean K Mah, Nens van Alfen
Advances in high-resolution ultrasound have provided clinicians with unique opportunities to study diseases of the peripheral nervous system. Ultrasound complements the clinical and electrophysiology exam by showing the degree of abnormalities in myopathies, as well as spontaneous muscle activities in motor neuron diseases and other disorders. In experienced hands, ultrasound is more sensitive than MRI in detecting peripheral nerve pathologies. It can also guide needle placement for electromyography exam, therapeutic injections, and muscle biopsy...
November 2018: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
(no author information available yet)
BACKGROUND: Understanding how prevalence, incidence, and mortality of motor neuron diseases change over time and by location is crucial for understanding the causes of these disorders and for health-care planning. Our aim was to produce estimates of incidence, prevalence, and disability-adjusted life-years (DALYs) for motor neuron diseases for 195 countries and territories from 1990 to 2016 as part of the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2016. METHODS: The motor neuron diseases included in this study were amyotrophic lateral sclerosis, spinal muscular atrophy, hereditary spastic paraplegia, primary lateral sclerosis, progressive muscular atrophy, and pseudobulbar palsy...
November 2, 2018: Lancet Neurology
Richa Kulshrestha, Natalie Forrester, Thalia Antoniadi, Tracey Willis, Sethil Kumar Sethuraman, Martin Samuels
Immunoglobulin-helicase-μ-binding protein 2 (IGHMBP2) mutations are associated with partial continuum between two extremes of rapidly lethal disorder of spinal muscular atrophy with respiratory distress type 1 (SMARD1), with infantile axonal neuropathy, diaphragmatic weakness and commonly death before 1 year of age, and Charcot-Marie-Tooth disease (CMT) type 2S with slowly progressive weakness and sensory loss but no significant respiratory compromise. We present an atypical case of CMT2S. A 9 month old boy presented with bilateral feet deformities and axonal neuropathy...
October 5, 2018: Neuromuscular Disorders: NMD
Atwood K Cheung, Brian Hurley, Ryan Kerrigan, Lei Shu, Donovan N Chin, Yiping Shen, Gary O'Brien, Moo Je Sung, Ying Hou, Jake Axford, Emma Cody, Robert Sun, Aleem Fazal, Ronald C Tomlinson, Monish Jain, Lin Deng, Keith Hoffmaster, Cheng Song, Mailin Van Hoosear, Youngah Shin, Rebecca Servais, Christopher S Towler, Marc Hild, Daniel Curtis, William F Dietrich, Lawrence G Hamann, Karin Briner, Karen S Chen, Dione Kobayashi, Rajeev Sivasankaran, Natalie A Dales
Spinal muscular atrophy (SMA), a rare neuromuscular disorder, is the leading genetic cause of death in infants and toddlers. SMA is caused by the deletion or a loss of function mutation of the survival motor neuron 1 (SMN1) gene. In humans, a second closely related gene SMN2 exists, however it codes for a less stable SMN protein. In recent years, significant progress has been made toward disease modifying treatments for SMA by modulating SMN2 pre-mRNA splicing. Herein, we describe the discovery of LMI070 / branaplam, a small molecule that stabilizes the interaction between the spliceosome and SMN2 pre-mRNA...
November 8, 2018: Journal of Medicinal Chemistry
Vijay B Rajput, Muthukumarasamy Karthikeyan, Sureshkumar Ramasamy
Acid ceramidase (N-acylsphingosine deacylase EC; AC) catalyzes the hydrolysis of ceramide into sphingosine (SPH) and free fatty acid. Zebrafish acid ceramidase (AC) has 60% homology with the human AC). Mutations in the human AC gene asah1 are known to cause Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Zebrafish AC was overexpressed in Pichia pastoris by inserting asah1b gene into the genome. The majority of the overexpressed enzyme was secreted into the culture medium and purified to apparent homogeneity by stepwise chromatography...
November 3, 2018: International Journal of Biological Macromolecules
Binkai Chi, Jeremy D O'Connell, Alexander D Iocolano, Jordan A Coady, Yong Yu, Jaya Gangopadhyay, Steven P Gygi, Robin Reed
Understanding the molecular pathways disrupted in motor neuron diseases is urgently needed. Here, we employed CRISPR knockout (KO) to investigate the functions of four ALS-causative RNA/DNA binding proteins (FUS, EWSR1, TAF15 and MATR3) within the RNAP II/U1 snRNP machinery. We found that each of these structurally related proteins has distinct roles with FUS KO resulting in loss of U1 snRNP and the SMN complex, EWSR1 KO causing dissociation of the tRNA ligase complex, and TAF15 KO resulting in loss of transcription factors P-TEFb and TFIIF...
November 6, 2018: Nucleic Acids Research
Ruth Grychtol, Francois Abel, Dominic A Fitzgerald
Spinal muscular atrophy (SMA) is a degenerative motor neurone disorder causing progressive muscular weakness. Without assisted ventilation or novel therapies, most children with SMA type 1 die before the second year of life due to respiratory failure as the respiratory muscles and bulbar function are severely affected. Active respiratory treatment (mechanically assisted cough, invasive or non-invasive ventilation) has improved survival significantly in recent decades, but often at the cost of becoming ventilator dependent...
July 24, 2018: Paediatric Respiratory Reviews
Pedro J Tomaselli, Alejandro Horga, Alexander M Rossor, Zane Jaunmuktane, Andrea Cortese, Julian C Blake, Natalia Zarate-Lopez, Henry Houlden, Mary M Reilly
Biallelic mutations in the IGHMBP2 have been associated with two distinct phenotypes: spinal muscular atrophy with respiratory distress type 1 (SMARD1) and CMT2S. We describe a patient who developed progressive muscle weakness and wasting in her upper and lower limbs from infancy. She developed respiratory involvement at age 9, eventually requiring 24-h non-invasive ventilation, and severe autonomic dysfunction restricted to the gastrointestinal tract. Neurophysiological studies at age 27 years revealed absent sensory and motor responses and severe chronic denervation changes in proximal muscles of the upper limbs...
August 29, 2018: Neuromuscular Disorders: NMD
C L Power, D J O'Rourke
No abstract text is available yet for this article.
March 14, 2018: Irish Medical Journal
Jin Hui Hor, Eunice Shi-Yi Soh, Li Yi Tan, Valerie Jing Wen Lim, Munirah Mohamad Santosa, Winanto, Beatrice Xuan Ho, Yong Fan, Boon-Seng Soh, Shi-Yan Ng
Spinal Muscular Atrophy (SMA) is caused by genetic mutations in the SMN1 gene, resulting in drastically reduced levels of Survival of Motor Neuron (SMN) protein. Although SMN is ubiquitously expressed, spinal motor neurons are one of the most affected cell types. Previous studies have identified pathways uniquely activated in SMA motor neurons, including a hyperactivated ER stress pathway, neuronal hyperexcitability, and defective spliceosomes. To investigate why motor neurons are more affected than other neural types, we developed a spinal organoid model of SMA...
October 27, 2018: Cell Death & Disease
Kiyotake Ishikawa, Thomas Weber, Roger J Hajjar
In the past 10 years, there has been tremendous progress made in the field of gene therapy. Effective treatments of Leber congenital amaurosis, hemophilia, and spinal muscular atrophy have been largely based on the efficiency and safety of adeno-associated vectors. Myocardial gene therapy has been tested in patients with heart failure using adeno-associated vectors with no safety concerns but lacking clinical improvements. Cardiac gene therapy is adapting to the new developments in vectors, delivery systems, targets, and clinical end points and is poised for success in the near future...
August 17, 2018: Circulation Research
Noemi Vidal-Folch, Dimitar Gavrilov, Kimiyo Raymond, Piero Rinaldo, Silvia Tortorelli, Dietrich Matern, Devin Oglesbee
BACKGROUND: Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder with neuronal degeneration leading to muscular atrophy and respiratory failure. SMA is frequently caused by homozygous deletions that include exon 7 of the survival motor neuron gene SMN1 , and its clinical course is influenced by the copy number of a nearby 5q SMN1 paralog, SMN2 . Multiple ligation probe amplification (MLPA) and real-time quantitative PCR (qPCR) can detect SMN1 deletions. Yet, qPCR needs normalization or standard curves, and MLPA demands DNA concentrations above those obtainable from dried blood spots (DBSs)...
October 23, 2018: Clinical Chemistry
Meaghan Van Alstyne, Francesco Lotti, Andrea Dal Mas, Estela Area-Gomez, Livio Pellizzoni
Stasimon (also known as Tmem41b) is an evolutionarily conserved transmembrane protein first identified for its contribution to motor system dysfunction in animal models of the childhood neurodegenerative disease spinal muscular atrophy (SMA). Stasimon was shown to be required for normal neurotransmission in the motor circuit of Drosophila larvae and proper development of motor axons in zebrafish embryos as well as to suppress analogous neuronal phenotypes in SMA models of these organisms. However, the subcellular localization and molecular functions of Stasimon are poorly understood...
November 30, 2018: Biochemical and Biophysical Research Communications
Garrett Smith, Stephanie K Bell, John T Sladky, Peter B Kang, Mehmet S Albayram
Spinal muscular atrophies are rare genetic disorders most often caused by homozygous deletion mutations in SMN1 that lead to progressive neurodegeneration of anterior horn cells. Ventral spinal root atrophy is a consistent pathological finding in post-mortem examinations of patients who suffered from various subtypes of spinal muscular atrophy; however, corresponding radiographic findings have not been previously reported. We present a patient with hypotonia and weakness who was found to have ventral spinal root atrophy in the lumbosacral region on MRI and was subsequently diagnosed with spinal muscular atrophy...
October 5, 2018: Clinical Imaging
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