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Spinal muscular atrophy

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https://www.readbyqxmd.com/read/28328128/first-drug-to-treat-spinal-muscular-atrophy-gets-fda-approval-costly-injectable-shown-to-stall-debilitating-muscle-wasting-effects-of-rare-genetic-disorder
#1
(no author information available yet)
No abstract text is available yet for this article.
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28323809/nusinersen-spinraza-for-spinal-muscular-atrophy
#2
(no author information available yet)
No abstract text is available yet for this article.
March 27, 2017: Medical Letter on Drugs and Therapeutics
https://www.readbyqxmd.com/read/28302390/matching-pairs-difficulty-in-children-with-spinal-muscular-atrophy-type-i
#3
Graziela Jorge Polido, Alessandra Ferreira Barbosa, Carlos Hitoshi Morimoto, Fátima Aparecida Caromano, Francis Meire Favero, Edmar Zanoteli, Umbertina Conti Reed, Mariana Callil Voos
This study aimed to investigate the performance on pair-matching tasks in children with Spinal Muscular Atrophy type I (SMA-I) and the relationship between this performance and motor function, functional independence and quality of life. SMA-I (n = 12; 6.0 ± 2.3 yrs; 9 boys, 3 girls) and control sex-, age-matched children (n = 12; 6.2 ± 2.6 yrs) performed four pair-matching figure, number and letter tasks. The eye tracker detected eye movements. SMA-I children were assessed with CHOP INTEND, Pediatric Evaluation of Disability Inventory, and Pediatric Quality of Life Inventory...
February 15, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28302142/maximum-inspiratory-pressure-as-a-clinically-meaningful-trial-endpoint-for-neuromuscular-diseases-a-comprehensive-review-of-the-literature
#4
REVIEW
Benedikt Schoser, Edward Fong, Tarekegn Geberhiwot, Derralynn Hughes, John T Kissel, Shyam C Madathil, David Orlikowski, Michael I Polkey, Mark Roberts, Harm A W M Tiddens, Peter Young
Respiratory muscle strength is a proven predictor of long-term outcome of neuromuscular disease (NMD), including amyotrophic lateral sclerosis, Duchenne muscular dystrophy, and spinal muscular atrophy. Maximal inspiratory pressure (MIP), a sensitive measure of respiratory muscle strength, one of several useful tests of respiratory muscle strength, is gaining interest as a therapeutic clinical trial endpoint for NMD. In this comprehensive review we investigate the use of MIP as a measure of respiratory muscle strength in clinical trials of therapeutics targeting respiratory muscle, examine the correlation of MIP with survival, quality of life, and other measures of pulmonary function, and outline the role of MIP as a clinically significantly meaningful outcome measure...
March 16, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28289706/plastin-3-extends-survival-and-reduces-severity-in-mouse-models-of-spinal-muscular-atrophy
#5
Kevin A Kaifer, Eric Villalón, Erkan Y Osman, Jacqueline J Glascock, Laura L Arnold, D D W Cornelison, Christian L Lorson
Spinal muscular atrophy (SMA) is a leading genetic cause of infantile death and is caused by the loss of survival motor neuron-1 (SMN1). Importantly, a nearly identical gene is present called SMN2; however, the majority of SMN2-derived transcripts are alternatively spliced and encode a truncated, dysfunctional protein. Recently, several compounds designed to increase SMN protein have entered clinical trials, including antisense oligonucleotides (ASOs), traditional small molecules, and gene therapy. Expanding beyond SMN-centric therapeutics is important, as it is likely that the breadth of the patient spectrum and the inherent complexity of the disease will be difficult to address with a single therapeutic strategy...
March 9, 2017: JCI Insight
https://www.readbyqxmd.com/read/28288228/-upper-limb-functional-assessment-scale-for-children-with-duchenne-muscular-dystrophy-and-spinal-muscular-atrophy
#6
Raúl G Escobar, Nayadet Lucero, Carmen Solares, Victoria Espinoza, Odalie Moscoso, Polín Olguín, Karin T Muñoz, Ricardo Rosas
Duchenne muscular dystrophy (DMD) and Spinal muscular atrophy (SMA) causes significant disability and progressive functional impairment. Readily available instruments that assess functionality, especially in advanced stages of the disease, are required to monitor the progress of the disease and the impact of therapeutic interventions. OBJECTIVE: To describe the development of a scale to evaluate upper limb function (UL) in patients with DMD and SMA, and describe its validation process, which includes self-training for evaluators...
February 2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28284873/establishing-a-reference-dataset-for-the-authentication-of-spinal-muscular-atrophy-cell-lines-using-str-profiling-and-digital-pcr
#7
Deborah L Stabley, Jennifer Holbrook, Ashlee W Harris, Kathryn J Swoboda, Thomas O Crawford, Katia Sol-Church, Matthew E R Butchbach
Fibroblasts and lymphoblastoid cell lines (LCLs) derived from individuals with spinal muscular atrophy (SMA) have been and continue to be essential for translational SMA research. Authentication of cell lines helps ensure reproducibility and rigor in biomedical research. This quality control measure identifies mislabeling or cross-contamination of cell lines and prevents misinterpretation of data. Unfortunately, authentication of SMA cell lines used in various studies has not been possible because of a lack of a reference...
February 6, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28278160/hyperleptinemia-in-children-with-autosomal-recessive-spinal-muscular-atrophy-type-i-iii
#8
Heike Kölbel, Berthold P Hauffa, Stefan A Wudy, Anastasios Bouikidis, Adela Della Marina, Ulrike Schara
BACKGROUND: Autosomal-recessive proximal spinal muscular atrophies (SMA) are disorders characterized by a ubiquitous deficiency of the survival of motor neuron protein that leads to a multisystemic disorder, which mostly affects alpha motor neurons. Disease progression is clinically associated with failure to thrive or weight loss, mainly caused by chewing and swallowing difficulties. Although pancreatic involvement has been described in animal models, systematic endocrinological evaluation of the energy metabolism in humans is lacking...
2017: PloS One
https://www.readbyqxmd.com/read/28277555/frequency-and-causes-of-hypotonia-in-neonatal-period-with-the-gestational-age-of-more-than-36-weeks-in-nicu-of-mofid-children-hospital-tehran-iran-during-2012-2014
#9
Nosratollah Seyed Shahabi, Hossain Fakhraee, Mohammad Kazemian, Abolfazl Afjeh, Minoo Fallahi, Maryam Shariati, Fatemeh Gorji
OBJECTIVE: Hypotonia is a serious neurologic problem in neonatal period. Although hypotonia is a nonspecific clinical finding but it is the most common motor disorder in the newborn. The objective of this study was to determine the frequency of neonatal hypotonia then to ascertain of the most common causes. MATERIALS & METHODS: This cross -sectional prospective study was carried out on the 3281 term infants hospitalized in conventional and NICU of Mofid Children Hospital, Tehran, Iran during 2012-2014...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/28271991/new-therapy-for-spinal-muscular-atrophy-offers-modest-bang-for-pharamaceutical-buck
#10
Thomas Morrow
Spinraza is a breakthrough, no doubt. It is a survival SMN-2-directed antisense oligonucleotide indicated for the treatment of SMA in pediatric and adult patients and is administered by injections into the spinal fluid (intrathecally). But it is another ultraexpensive drug, and the evidence so far points to a modest improvement in motor milestones.
February 2017: Managed Care
https://www.readbyqxmd.com/read/28270618/novel-combinatorial-screening-identifies-neurotrophic-factors-for-selective-classes-of-motor-neurons
#11
Sébastien Schaller, Dorothée Buttigieg, Alysson Alory, Arnaud Jacquier, Marc Barad, Mark Merchant, David Gentien, Pierre de la Grange, Georg Haase
Numerous neurotrophic factors promote the survival of developing motor neurons but their combinatorial actions remain poorly understood; to address this, we here screened 66 combinations of 12 neurotrophic factors on pure, highly viable, and standardized embryonic mouse motor neurons isolated by a unique FACS technique. We demonstrate potent, strictly additive, survival effects of hepatocyte growth factor (HGF), ciliary neurotrophic factor (CNTF), and Artemin through specific activation of their receptor complexes in distinct subsets of lumbar motor neurons: HGF supports hindlimb motor neurons through c-Met; CNTF supports subsets of axial motor neurons through CNTFRα; and Artemin acts as the first survival factor for parasympathetic preganglionic motor neurons through GFRα3/Syndecan-3 activation...
March 7, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28270613/smn-deficiency-in-severe-models-of-spinal-muscular-atrophy-causes-widespread-intron-retention-and-dna-damage
#12
Mohini Jangi, Christina Fleet, Patrick Cullen, Shipra V Gupta, Shila Mekhoubad, Eric Chiao, Norm Allaire, C Frank Bennett, Frank Rigo, Adrian R Krainer, Jessica A Hurt, John P Carulli, John F Staropoli
Spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disease, is the leading monogenic cause of infant mortality. Homozygous loss of the gene survival of motor neuron 1 (SMN1) causes the selective degeneration of lower motor neurons and subsequent atrophy of proximal skeletal muscles. The SMN1 protein product, survival of motor neuron (SMN), is ubiquitously expressed and is a key factor in the assembly of the core splicing machinery. The molecular mechanisms by which disruption of the broad functions of SMN leads to neurodegeneration remain unclear...
March 7, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28269795/smn-blood-levels-in-a-porcine-model-of-spinal-muscular-atrophy
#13
Xueqian Wang, Samantha R Renusch, Sandra I Duque, Allison M Wehr, Xiaokui-Molly Mo, Vicki L McGovern, W David Arnold, Arthur H M Burghes, Stephen J Kolb
BACKGROUND: Spinal Muscular Atrophy (SMA) is an autosomal recessive motor neuron disease that results in loss of spinal motor neurons, muscular weakness and, in severe cases, respiratory failure and death. SMA is caused by a deletion or mutation of the SMN1 gene and retention of the SMN2 gene that leads to low SMN expression levels.The measurement of SMN mRNA levels in peripheral blood samples has been used in SMA clinical studies as a pharmacodynamic biomarker for response to therapies designed to increase SMN levels...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28258940/low-bone-mineral-density-and-fractures-are-highly-prevalent-in-pediatric-patients-with-spinal-muscular-atrophy-regardless-of-disease-severity
#14
Halley M Wasserman, Lindsey N Hornung, Peggy J Stenger, Meilan M Rutter, Brenda L Wong, Irina Rybalsky, Jane C Khoury, Heidi J Kalkwarf
Patients with Spinal Muscular Atrophy (SMA) are at risk for poor bone health. The prevalence of fractures, low areal bone mineral density (aBMD; Z-score ≤-2.0) of the lateral distal femur and of osteoporosis by SMA subtype is not known. We aimed to describe the natural history of bone health in patients with SMA prior to bisphosphonate treatment. We reviewed data from 85 eligible patients with SMA ages 12 months to 18 years, seen at a single institution between January 2005 and July 2016. Fracture history was reported at annual clinic visits...
February 1, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28258160/a-new-cis-acting-motif-is-required-for-the-axonal-smn-dependent-anxa2-mrna-localization
#15
Khalil Rihan, Etienne Antoine, Thomas Maurin, Barbara Bardoni, Rémy Bordonné, Johann Soret, Florence Rage
Spinal muscular atrophy (SMA) is caused by mutations and/or deletions of the survival motor neuron gene (SMN1). Besides its function in the biogenesis of spliceosomal snRNPs, SMN might possess a motor neuron specific role and could function in the transport of axonal mRNAs and in the modulation of local protein translation. Accordingly, SMN colocalizes with axonal mRNAs of differentiated NSC-34 motor neuron-like cells. We recently showed that SMN depletion gives rise to a decrease in the axonal transport of the mRNAs encoding Annexin A2 (Anxa2)...
March 3, 2017: RNA
https://www.readbyqxmd.com/read/28257199/design-of-potent-mrna-decapping-scavenger-enzyme-dcps-inhibitors-with-improved-physicochemical-properties-to-investigate-the-mechanism-of-therapeutic-benefit-in-spinal-muscular-atrophy-sma
#16
Ariamala Gopalsamy, Arjun Narayanan, Shenping Liu, Mihir D Parikh, Robert E Kyne, Olugbeminiyi O Fadeyi, Michael A Tones, Jonathan J Cherry, Joseph F Nabhan, Gregory LaRosa, Donna N Petersen, Carol A Menard, Timothy L Foley, Stephen Noell, Yong Ren, Paula M Loria, Jodi Maglich-Goodwin, Haojing Rong, Lyn H Jones
The C-5 substituted 2,4-diaminoquinazoline RG3039 (compound 1), a member of a chemical series that was identified and optimized using an SMN2 promoter screen, prolongs survival and improves motor function in a mouse model of spinal muscular atrophy (SMA). It is a potent inhibitor of the mRNA Decapping Scavenger Enzyme (DcpS), but the mechanism whereby DcpS inhibition leads to therapeutic benefit is unclear. Compound 1 is a dibasic lipophilic molecule that is predicted to accumulate in lysosomes. To understand if the in-vivo efficacy is due to DcpS inhibition or other effects resulting from the physicochemical properties of the chemotype, we undertook structure based molecular design to identify DcpS inhibitors with improved physicochemical properties...
March 3, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28251733/whole-transcriptome-sequencing-in-blood-provides-a-diagnosis-of-spinal-muscular-atrophy-with-progressive-myoclonic-epilepsy-sma-pme
#17
Kristin D Kernohan, Laure Frésard, Zachary Zappala, Taila Hartley, Kevin S Smith, Justin Wagner, Hongbin Xu, Arran McBride, Pierre R Bourque, Care Rare Canada Consortium, Steffany A L Bennett, David A Dyment, Kym M Boycott, Stephen B Montgomery, Jodi Warman-Chardon
At least 15% of disease-causing mutations affect mRNA splicing. Many splicing mutations are missed in a clinical setting due to limitations of in silico prediction algorithms or their location in non-coding regions. Whole transcriptome sequencing is a promising new tool to identify these mutations; however, it will be a challenge to obtain disease relevant tissue for RNA. Here, we describe an individual with a sporadic atypical spinal muscular atrophy, in whom clinical DNA sequencing reported one pathogenic ASAH1 mutation (c...
March 2, 2017: Human Mutation
https://www.readbyqxmd.com/read/28250698/pharmaceutical-approval-update
#18
Mary Choy
Insulin degludec/liraglutide (Xultophy 100/3.6) for type-2 diabetes; rucaparib (Rubraca) for the treatment of deleterious BRCA mutation-associated ovarian cancer; and nusinersen (Spinraza) for the treatment of spinal muscular atrophy.
March 2017: P & T: a Peer-reviewed Journal for Formulary Management
https://www.readbyqxmd.com/read/28250049/diabetic-polyneuropathy-sensory-neurons-nuclear-structure-and-spliceosome-alterations-a-role-for-cwc22
#19
Masaki Kobayashi, Ambika Chandrasekhar, Chu Cheng, Jose A Martinez, Hilarie Ng, Cristiane de la Hoz, Douglas W Zochodne
Unique deficits in the function of adult sensory neurons as part of their early neurodegeneration might account for progressive polyneuropathy during chronic diabetes mellitus. Here, we provide structural and functional evidence for aberrant pre-mRNA splicing in a chronic type 1 model of experimental diabetic polyneuropathy (DPN). Cajal bodies (CBs), unique nuclear substructures involved in RNA splicing, increased in number in diabetic sensory neurons, but their expected colocalization with survival motor neuron (SMN) proteins was reduced - a mislocalization described in motor neurons of spinal muscular atrophy...
March 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28244996/cellular-uptake-and-trafficking-of-antisense-oligonucleotides
#20
Stanley T Crooke, Shiyu Wang, Timothy A Vickers, Wen Shen, Xue-Hai Liang
Antisense oligonucleotides (ASOs) modified with phosphorothioate (PS) linkages and different 2' modifications can be used either as drugs (e.g., to treat homozygous familial hypercholesterolemia and spinal muscular atrophy) or as research tools to alter gene expression. PS-ASOs can enter cells without additional modification or formulation and can be designed to mediate sequence-specific cleavage of different types of RNA (including mRNA and non-coding RNA) targeted by endogenous RNase H1. Although PS-ASOs function in both the cytoplasm and nucleus, localization to different subcellular regions can affect their therapeutic potency...
March 2017: Nature Biotechnology
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