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Spinal Muscle Atrophy

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https://www.readbyqxmd.com/read/28087734/increased-mitophagy-in-the-skeletal-muscle-of-spinal-and-bulbar-muscular-atrophy-patients
#1
Doriana Borgia, Adriana Malena, Marco Spinazzi, Maria Andrea Desbats, Leonardo Salviati, Aaron P Russell, Giovanni Miotto, Laura Tosatto, Elena Pegoraro, Gianni Sorarù, Maria Pennuto, Lodovica Vergani
Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disorder caused by polyglutamine expansion in the androgen receptor (AR) and characterized by the loss of lower motor neurons. Here we investigated pathological processes occurring in muscle biopsy specimens derived from SBMA patients and, as controls, age-matched healthy subjects and patients suffering from amyotrophic lateral sclerosis (ALS) and neurogenic atrophy. We detected atrophic fibers in the muscle of SBMA, ALS and neurogenic atrophy patients...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28062667/smn-deficiency-negatively-impacts-red-pulp-macrophages-and-spleen-development-in-mouse-models-of-spinal-muscular-atrophy
#2
Marie-Therese Khairallah, Jacob Astroski, Sarah K Custer, Elliot J Androphy, Craig L Franklin, Christian L Lorson
Spinal muscular atrophy (SMA) is a progressive neurodegenerative disease that is the leading genetic cause of infantile death. It is caused by severe deficiency of the ubiquitously expressed Survival Motor Neuron (SMN) protein. SMA is characterized by α-lower motor neuron loss and muscle atrophy, however, there is a growing list of tissues impacted by SMN deficiency beyond motor neurons. The non-neuronal defects are observed in the most severe Type I SMA patients and most of the widely used SMA mouse models, however, as effective therapeutics are developed, it is unclear whether additional symptoms will be uncovered in longer lived patients...
January 5, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28055084/forward-head-posture-and-activation-of-rectus-capitis-posterior-muscles
#3
Richard C Hallgren, Steven J Pierce, Dhruv B Sharma, Jacob J Rowan
CONTEXT: Rectus capitis posterior (RCP) muscles have physical attachments to the pain-sensitive spinal dura. Atrophy of these muscles is associated with chronic headache in some patients. The authors suspect that the significance of atrophy in the RCP muscles has been undervalued because the functional role of these muscles is not well defined. OBJECTIVE: To determine whether a statistically significant change in normalized levels of electromyographic activity in RCP muscles occurs when the head is voluntarily moved from a self-selected neutral head position to a protruded head position...
January 1, 2017: Journal of the American Osteopathic Association
https://www.readbyqxmd.com/read/28040732/mutant-profilin1-transgenic-mice-recapitulate-cardinal-features-of-motor-neuron-disease
#4
Daniel Fil, Abigail DeLoach, Shilpi Yadav, Duah Alkam, Melanie MacNicol, Awantika Singh, Cesar M Compadre, Joseph J Goellner, Charles A O'Brien, Tariq Fahmi, Alexei G Basnakian, Noel Y Calingasan, Jodi L Klessner, M Flint Beal, Owen M Peters, Jake Metterville, Robert H Brown, Karen K Y Ling, Frank Rigo, P Hande Ozdinler, Mahmoud Kiaei
The recent identification of profilin1 mutations in 25 familial ALS cases has linked altered function of this cytoskeleton-regulating protein to the pathogenesis of motor neuron disease. To investigate the pathological role of mutant profilin1 in motor neuron disease, we generated transgenic lines of mice expressing human profilin1 with a mutation at position 118 (hPFN1(G118V)). One of the mouse lines expressing high levels of mutant human PFN1 protein in the brain and spinal cord exhibited many key clinical and pathological features consistent with human ALS disease...
December 30, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28026041/emerging-therapies-and-challenges-in-spinal-muscular-atrophy
#5
REVIEW
Michelle A Farrar, Susanna B Park, Steve Vucic, Kate A Carey, Bradley J Turner, Thomas H Gillingwater, Kathryn J Swoboda, Matthew C Kiernan
Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease with severity ranging from progressive infantile paralysis and premature death (Type I) to limited motor neuron loss and normal life expectancy (Type IV). Without disease-modifying therapies, the impact is profound for patients and their families. Improved understanding of the molecular basis of SMA, disease pathogenesis, natural history and recognition of the impact of standardized care on outcomes has yielded progress towards the development of novel therapeutic strategies and are summarised...
December 27, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/28005993/decreased-peak-expiratory-flow-associated-with-muscle-fiber-type-switching-in-spinal-and-bulbar-muscular-atrophy
#6
Shinichiro Yamada, Atsushi Hashizume, Yasuhiro Hijikata, Tomonori Inagaki, Keisuke Suzuki, Naohide Kondo, Kaori Kawai, Seiya Noda, Hirotaka Nakanishi, Haruhiko Banno, Akihiro Hirakawa, Haruki Koike, Katherine Halievski, Cynthia L Jordan, Masahisa Katsuno, Gen Sobue
The aim of this study was to characterize the respiratory function profile of subjects with spinal and bulbar muscular atrophy (SBMA), and to explore the underlying pathological mechanism by comparing the clinical and biochemical indices of this disease with those of amyotrophic lateral sclerosis (ALS). We enrolled male subjects with SBMA (n = 40) and ALS (n = 25) along with 15 healthy control subjects, and assessed their respiratory function, motor function, and muscle strength. Predicted values of peak expiratory flow (%PEF) and forced vital capacity were decreased in subjects with SBMA compared with controls...
2016: PloS One
https://www.readbyqxmd.com/read/28003344/differentiating-lower-motor-neuron-syndromes
#7
REVIEW
Nidhi Garg, Susanna B Park, Steve Vucic, Con Yiannikas, Judy Spies, James Howells, William Huynh, José M Matamala, Arun V Krishnan, John D Pollard, David R Cornblath, Mary M Reilly, Matthew C Kiernan
Lower motor neuron (LMN) syndromes typically present with muscle wasting and weakness and may arise from pathology affecting the distal motor nerve up to the level of the anterior horn cell. A variety of hereditary causes are recognised, including spinal muscular atrophy, distal hereditary motor neuropathy and LMN variants of familial motor neuron disease. Recent genetic advances have resulted in the identification of a variety of disease-causing mutations. Immune-mediated disorders, including multifocal motor neuropathy and variants of chronic inflammatory demyelinating polyneuropathy, account for a proportion of LMN presentations and are important to recognise, as effective treatments are available...
December 21, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28001757/photobiomodulation-triple-treatment-in-peripheral-nerve-injury-nerve-and-muscle-response
#8
Mira M Mandelbaum-Livnat, Mara Almog, Moshe Nissan, Emmanuel Loeb, Yuval Shapira, Shimon Rochkind
BACKGROUND: Muscle preservation or decrease in muscle degeneration and progressive atrophy are major challenges in patients with severe peripheral nerve injury (PNI). Considerable interest exists in the potential therapeutic value of laser phototherapy (photobiomodulation) for restoring denervated muscle atrophy and for enhancing regeneration of severely injured peripheral nerves. As previously published, the laser phototherapy has a protective and immediate effect in PNI. Laser phototherapy in the early stages of muscle atrophy may preserve the denervated muscle by maintaining creatinine kinase (CK) activity and the amount of acetylcholine receptor (AChR)...
December 2016: Photomedicine and Laser Surgery
https://www.readbyqxmd.com/read/27998200/spinal-cord-injury-leads-to-hyperoxidation-and-nitrosylation-of-skeletal-muscle-ryanodine-receptor-1-associated-with-upregulation-of-nadh-oxidase-4
#9
Xin-Hua Liu, Lauren Harlow, Zachary A Graham, William A Bauman, Chris Cardozo
Spinal cord injury (SCI) results in marked atrophy and dysfunction of skeletal muscle. There are currently no effective treatments for SCI-induced muscle atrophy or the dysfunction of the remaining muscle tissue. NADPH oxidase-4 (Nox4) produces reactive oxygen species (ROS) in sarcoplasmic reticulum (SR) and has been identified as an important O2 sensor in skeletal muscle. Ryanodine receptors (RyRs) are calcium (Ca2+) channels that are responsible for Ca2+ release from SR. In skeletal muscle, type1 RyR (RyR1) is predominantly functional...
December 21, 2016: Journal of Neurotrauma
https://www.readbyqxmd.com/read/27995572/intramuscular-delivery-of-scaav9-higf1-prolongs-survival-in-the-hsod1-g93a-als-mouse-model-via-upregulation-of-d-amino-acid-oxidase
#10
HuiQian Lin, HaoJie Hu, WeiSong Duan, YaLing Liu, GuoJun Tan, ZhongYao Li, YaKun Liu, BinBin Deng, XueQin Song, Wan Wang, Di Wen, Ying Wang, ChunYan Li
Self-complementary adeno-associated viral vector 9 (scAAV9) has been confirmed to be an efficient AAV serotype for gene transfer to the central nervous system (CNS). Neurotrophic factors have been considered to be therapeutic targets for amyotrophic lateral sclerosis (ALS). In the present study, we intramuscularly injected scAAV9 encoding human insulin-like growth factor 1 (hIGF1) into an hSOD1(G93A) ALS mouse model. We observed that scAAV9-hIGF1 significantly reduced the loss of motor neurons of the anterior horn in the lumbar spinal cord and delayed muscle atrophy in ALS mice...
December 19, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27992085/muscle-atrophy-is-associated-with-cervical-spinal-motoneuron-loss-in-bachd-mouse-model-for-huntington-s-disease
#11
Priscila Aparecida Costa Valadão, Bárbara Campos de Aragão, Jéssica Neves Andrade, Matheus Proença S M Gomes, Giselle Foureaux, Julliane Vasconcelos Joviano-Santos, José Carlos Nogueira, Fabíola Mara Ribeiro, Juan Carlos Tapia, Cristina Guatimosim
Involuntary choreiform movements are clinical hallmark of Huntington's disease, an autosomal dominant neurodegenerative disorder caused by an increased number of CAG trinucleotide repeats in the huntingtin gene. Involuntary movements start with an impairment of facial muscles and then affect trunk and limbs muscles. Huntington's disease symptoms are caused by changes in cortex and striatum neurons induced by mutated huntingtin. However little is known about the impact of this abnormal protein in spinal cord motoneurons that control movement...
December 19, 2016: European Journal of Neuroscience
https://www.readbyqxmd.com/read/27988341/can-lumbosacral-orthoses-cause-trunk-muscle-weakness-a-systematic-review-of-literature
#12
REVIEW
Fatemeh Azadinia, Esmaeil Ebrahimi Takamjani, Mojtaba Kamyab, Mohamad Parnianpour, Jacek Cholewicki, Nader Maroufi
BACKGROUND: Wearing lumbosacral orthosis (LSO) is one of the most common treatments prescribed for conservative management of low back pain. While the results of randomized controlled trials suggest effectiveness of LSO in reducing pain and disability in these patients, there is a concern that prolonged use of LSO may lead to trunk muscle weakness and atrophy. PURPOSE: The present review aimed to evaluate available evidence in literature to determine whether LSO result in trunk muscle weakness and/or atrophy...
December 14, 2016: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/27981906/locomotor-training-and-factors-associated-with-blood-glucose-regulation-after-spinal-cord-injury
#13
Philip D Chilibeck, Pierre A Guertin
BACKGROUND: Individuals with spinal cord injury (SCI) have increased rates of glucose intolerance, insulin insensitivity, and type II diabetes caused mainly by the deconditioning of paralyzed muscle. The purpose of this systematic review was to determine the effectiveness of locomotor training in individuals with SCI on blood glucose control. METHODS: We searched studies on locomotor training for individuals with SCI with outcomes of glucose, insulin, or outcomes that could change glucose handling (i...
December 16, 2016: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/27973754/transplantation-of-embryonic-spinal-cord-neurons-to-the-injured-distal-nerve-promotes-axonal-regeneration-after-delayed-nerve-repair
#14
Wenming Zhang, Xinyu Fang, Chaofan Zhang, Wen Li, Wai Man Wong, Yejun Xu, Wutian Wu, Jianhua Lin
Peripheral nerve injury (PNI) usually results in poor functional recovery. Nerve repair is the common clinical treatment for PNI but is always obstructed by the chronic degeneration of the distal stump and muscle. Cell transplantation can alleviate the muscle atrophy after PNI, but the subsequent recovery of the locomotive function is seldom described. In this study, we combined cell transplantation and nerve repair to investigate whether the transplantation of embryonic spinal cord cells could benefit the delayed nerve repair...
December 14, 2016: European Journal of Neuroscience
https://www.readbyqxmd.com/read/27939059/treatment-of-infantile-onset-spinal-muscular-atrophy-with-nusinersen-a-phase-2-open-label-dose-escalation-study
#15
Richard S Finkel, Claudia A Chiriboga, Jiri Vajsar, John W Day, Jacqueline Montes, Darryl C De Vivo, Mason Yamashita, Frank Rigo, Gene Hung, Eugene Schneider, Daniel A Norris, Shuting Xia, C Frank Bennett, Kathie M Bishop
BACKGROUND: Nusinersen is a 2'-O-methoxyethyl phosphorothioate-modified antisense drug being developed to treat spinal muscular atrophy. Nusinersen is specifically designed to alter splicing of SMN2 pre-mRNA and thus increase the amount of functional survival motor neuron (SMN) protein that is deficient in patients with spinal muscular atrophy. METHODS: This open-label, phase 2, escalating dose clinical study assessed the safety and tolerability, pharmacokinetics, and clinical efficacy of multiple intrathecal doses of nusinersen (6 mg and 12 mg dose equivalents) in patients with infantile-onset spinal muscular atrophy...
December 17, 2017: Lancet
https://www.readbyqxmd.com/read/27911337/effect-of-the-butyrate-prodrug-pivaloyloxymethyl-butyrate-an9-on-a-mouse-model-for-spinal-muscular-atrophy
#16
Jonathan D Edwards, Matthew E R Butchbach
Spinal muscular atrophy (SMA) is an early-onset motor neuron disease that leads to loss of muscle function. Butyrate (BA)-based compounds markedly improve the survival and motor phenotype of SMA mice. In this study, we examine the protective effects of the BA prodrug pivaloyloxymethyl butyrate (AN9) on the survival of SMNΔ7 SMA mice. Oral administration of AN9 beginning at PND04 almost doubled the average lifespan of SMNΔ7 SMA mice. AN9 treatment also increased the growth rate of SMNΔ7 SMA mice when compared to vehicle-treated SMNΔ7 SMA mice...
November 29, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27911332/type-0-spinal-muscular-atrophy-further%C3%A2-delineation-of-prenatal-and%C3%A2-postnatal-features-in-16-patients
#17
Sarah Grotto, Jean-Marie Cuisset, Stéphane Marret, Séverine Drunat, Patricia Faure, Séverine Audebert-Bellanger, Isabelle Desguerre, Vincent Flurin, Anne-Gaëlle Grebille, Anne-Marie Guerrot, Hubert Journel, Gilles Morin, Ghislaine Plessis, Sylvain Renolleau, Joëlle Roume, Brigitte Simon-Bouy, Renaud Touraine, Marjolaine Willems, Thierry Frébourg, Eric Verspyck, Pascale Saugier-Veber
BACKGROUND: Spinal muscular atrophy (SMA) is caused by homozygous inactivation of the SMN1 gene. The SMN2 copy number modulates the severity of SMA. The 0SMN1/1SMN2 genotype, the most severe genotype compatible with life, is expected to be associated with the most severe form of the disease, called type 0 SMA, defined by prenatal onset. OBJECTIVE: The aim of the study was to review clinical features and prenatal manifestations in this rare SMA subtype. METHODS: SMA patients with the 0SMN1/1SMN2 genotype were retrospectively collected using the UMD-SMN1 France database...
November 29, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27907033/normalization-of-patient-identified-plasma-biomarkers-in-smn%C3%AE-7-mice-following-postnatal-smn-restoration
#18
W David Arnold, Sandra Duque, Chitra C Iyer, Phillip Zaworski, Vicki L McGovern, Shannon J Taylor, Katharine M von Herrmann, Dione T Kobayashi, Karen S Chen, Stephen J Kolb, Sergey V Paushkin, Arthur H M Burghes
INTRODUCTION AND OBJECTIVE: Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disorder. SMA is caused by homozygous loss of the SMN1 gene and retention of the SMN2 gene resulting in reduced levels of full length SMN protein that are insufficient for motor neuron function. Various treatments that restore levels of SMN are currently in clinical trials and biomarkers are needed to determine the response to treatment. Here, we sought to investigate in SMA mice a set of plasma analytes, previously identified in patients with SMA to correlate with motor function...
2016: PloS One
https://www.readbyqxmd.com/read/27907012/the-signature-of-microrna-dysregulation-in-muscle-paralyzed-by-spinal-cord-injury-includes-downregulation-of-micrornas-that-target-myostatin-signaling
#19
Rita De Gasperi, Zachary A Graham, Lauren M Harlow, William A Bauman, Weiping Qin, Christopher P Cardozo
Spinal cord injury (SCI) results in muscle atrophy, reduced force generation and an oxidative-to-glycolytic fiber type shift. The mechanisms responsible for these alterations remain incompletely understood. To gain new insights regarding mechanisms involved in deterioration of muscle after SCI, global expression profiles of miRs in paralyzed gastrocnemius muscle were compared between sham-operated (Sham) and spinal cord-transected (SCI) rats. Ingenuity Pathways Analysis of the altered miRs identified signaling via insulin, IGF-1, integrins and TGF-β as being significantly enriched for target genes...
2016: PloS One
https://www.readbyqxmd.com/read/27903350/-effect-of-lumbar-dorsal-muscle-injuries-on-lumbar-vertebral-bone-quality-of-rat
#20
X P Wang, S J Wang, P Yan, L L Zhu, M Q Li, Z Y Bian, J W Tian
Objective: To explored the effects of lumbar dorsal muscle damage on local lumbar vertebral bone quality. Methods: Thirty SD female rats, at age of 20 weeks, were randomly divided into three groups: control group, or say pseudo surgery group, an incision in the back were performed as CNT; bilateral erector spinal muscle group in which group bilateral lumbar erector spinal muscle were removed as RESM; castration group in which bilateral ovaries were resected as OVX.After three months, bone mineral density, microscopic CT and vertebral compression test were taken in lumbar vertebral (L4-6) in turn...
November 22, 2016: Zhonghua Yi Xue za Zhi [Chinese medical journal]
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