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Spinal muscular atrophy

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https://www.readbyqxmd.com/read/29149772/natural-history-of-infantile-onset-spinal-muscular-atrophy
#1
Stephen J Kolb, Christopher S Coffey, Jon W Yankey, Kristin Krosschell, W David Arnold, Seward B Rutkove, Kathryn J Swoboda, Sandra P Reyna, Ai Sakonju, Basil T Darras, Richard Shell, Nancy Kuntz, Diana Castro, Julie Parsons, Anne M Connolly, Claudia A Chiriboga, Craig McDonald, W Bryan Burnette, Klaus Werner, Mathula Thangarajh, Perry B Shieh, Erika Finanger, Merit E Cudkowicz, Michelle M McGovern, D Elizabeth McNeil, Richard Finkel, Susan T Iannaccone, Edward Kaye, Allison Kingsley, Samantha R Renusch, Vicki L McGovern, Xueqian Wang, Phillip G Zaworski, Thomas W Prior, Arthur H M Burghes, Amy Bartlett, John T Kissel
OBJECTIVE: Infantile-onset spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality, typically resulting in death prior to age 2. Clinical trials in this population require an understanding of disease progression and identification of meaningful biomarkers to hasten therapeutic development and predict outcomes. METHODS: A longitudinal, multi-center, prospective natural history study enrolled 26 SMA infants, and 27 control infants less than six months of age...
November 17, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29146237/parents-advice-to-healthcare-professionals-working-with-children-who-have-spinal-muscular-atrophy
#2
Elin Hjorth, Ulrika Kreicbergs, Thomas Sejersen, Malin Lövgren
AIM: To explore parents' advice to healthcare professionals working with children with spinal muscular atrophy (SMA). MATERIALS AND METHODS: This study derives from a Swedish nationwide survey and uses content analysis to make inferences from answers to an open-ended question concerning parent's advice to healthcare professionals. Of eligible parents who had a child born in Sweden between 2000 and 2010, diagnosed with SMA type 1 or 2, and for whom respiratory support was considered in the first year of life, 61 participated in the study (response rate: 87%)...
November 13, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29144277/newborn-screening-for-spinal-muscular-atrophy-and-lysosomal-storage-disorders-takes-advantage-of-novel-therapies
#3
EDITORIAL
Hans C Andersson
No abstract text is available yet for this article.
November 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29144272/body-composition-in-children-with-chronic-illness-accuracy-of-bedside-assessment-techniques
#4
Enid E Martinez, Craig D Smallwood, Nicolle L Quinn, Katelyn Ariagno, Lori J Bechard, Christopher P Duggan, Nilesh M Mehta
OBJECTIVE: To evaluate the accuracy of estimated fat mass and fat-free mass from bedside methods compared with reference methods in children with chronic illnesses. STUDY DESIGN: Fat mass and fat-free mass values were obtained by skinfold, bioelectrical impedance analysis (BIA), dual-energy x-ray absorptiometry (DXA), and deuterium dilution method in children with spinal muscular atrophy, intestinal failure, and post hematopoietic stem cell transplantation (HSCT)...
November 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29142792/spinal-muscular-atrophy-the-treatment-approved
#5
Rabih Tabet, Sandy El Bitar, Julie Zaidan, Garbis Dabaghian
Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder resulting in progressive muscle weakness and atrophy. It is universally fatal, especially if the respiratory muscles are involved leading to repetitive aspiration and respiratory failure. Historically, the treatment for this disease was only supportive. Herein we describe an adult patient who presented with worsening weakness and fatigue and was subsequently diagnosed with spinal muscular atrophy. Increased awareness of this condition and a new treatment modality is required...
September 2, 2017: Curēus
https://www.readbyqxmd.com/read/29142082/nonalcoholic-fatty-liver-disease-in-spinal-and-bulbar-muscular-atrophy
#6
Robert D Guber, Varun Takyar, Angela Kokkinis, Derrick A Fox, Hawwa Alao, Ilona Kats, Dara Bakar, Alan T Remaley, Stephen M Hewitt, David E Kleiner, Chia-Ying Liu, Colleen Hadigan, Kenneth H Fischbeck, Yaron Rotman, Christopher Grunseich
OBJECTIVE: To determine the prevalence and features of fatty liver disease in spinal and bulbar muscular atrophy (SBMA). METHODS: Two groups of participants with SBMA were evaluated. In the first group, 22 participants with SBMA underwent laboratory analysis and liver imaging. In the second group, 14 participants with SBMA were compared to 13 female carriers and 23 controls. Liver biopsies were done in 4 participants with SBMA. RESULTS: Evidence of fatty liver disease was detected by magnetic resonance spectroscopy in all participants with SBMA in the first group, with an average dome intrahepatic triacylglycerol of 27% (range 6%-66%, ref ≤5...
November 15, 2017: Neurology
https://www.readbyqxmd.com/read/29133793/binding-to-smn2-pre-mrna-protein-complex-elicits-specificity-for-small-molecule-splicing-modifiers
#7
Manaswini Sivaramakrishnan, Kathleen D McCarthy, Sébastien Campagne, Sylwia Huber, Sonja Meier, Angélique Augustin, Tobias Heckel, Hélène Meistermann, Melanie N Hug, Pascale Birrer, Ahmed Moursy, Sarah Khawaja, Roland Schmucki, Nikos Berntenis, Nicolas Giroud, Sabrina Golling, Manuel Tzouros, Balazs Banfai, Gonzalo Duran-Pacheco, Jens Lamerz, Ying Hsiu Liu, Thomas Luebbers, Hasane Ratni, Martin Ebeling, Antoine Cléry, Sergey Paushkin, Adrian R Krainer, Frédéric H-T Allain, Friedrich Metzger
Small molecule splicing modifiers have been previously described that target the general splicing machinery and thus have low specificity for individual genes. Several potent molecules correcting the splicing deficit of the SMN2 (survival of motor neuron 2) gene have been identified and these molecules are moving towards a potential therapy for spinal muscular atrophy (SMA). Here by using a combination of RNA splicing, transcription, and protein chemistry techniques, we show that these molecules directly bind to two distinct sites of the SMN2 pre-mRNA, thereby stabilizing a yet unidentified ribonucleoprotein (RNP) complex that is critical to the specificity of these small molecules for SMN2 over other genes...
November 14, 2017: Nature Communications
https://www.readbyqxmd.com/read/29130140/transforaminal-intrathecal-delivery-of-nusinersen-using-cone-beam-computed-tomography-for-children-with-spinal-muscular-atrophy-and-extensive-surgical-instrumentation-early-results-of-technical-success-and-safety
#8
John J Weaver, Niranjana Natarajan, Dennis W W Shaw, Susan D Apkon, Kevin S H Koo, Giri M Shivaram, Eric J Monroe
BACKGROUND: Nusinersen, the only treatment approved by the United States Food and Drug Administration for spinal muscular atrophy (SMA), is delivered intrathecally. Many children with SMA have extensive spinal instrumentation and deformities, often precluding the use of standard approaches for gaining intrathecal access. Furthermore the anatomical distortion that often occurs with rotoscoliosis can complicate the use of fluoroscopic guidance. Compared to fluoroscopy, CT affords superior guidance for complex needle placements...
November 13, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/29129380/evaluation-of-activities-of-daily-living-in-patients-with-slowly-progressive-neuromuscular-diseases
#9
Katarzyna Bienias, Joanna Ścibek, Joanna Cegielska, Jan Kochanowski
Slowly progressive neuromuscular diseases include but are not limited to: facioscapulohumeral muscular dystrophy (FSHD) and limb-girdle muscular dystrophy (LGMD), hereditary motor and sensory neuropathy (HMSN) and spinal muscular atrophy type III (SMA3). The purpose of this study is to present an evaluation of basic and complex activities of daily living in patients suffering from these diseases. The study was conducted on a group of 58 Polish patients: 25 patients with HMSN, 19 with LGMD and FSHD and 14 with SMA3...
October 27, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/29115051/to-the-end-of-the-line-axonal-mrna-transport-and-local-translation-in-health-and-neurodegenerative-disease
#10
REVIEW
Christopher J Costa, Dianna E Willis
Axons and growth cones, by their very nature far removed from the cell body, encounter unique environments and require distinct populations of proteins. It seems only natural, then, that they have developed mechanisms to locally synthesize a host of proteins required to perform their specialized functions. Acceptance of this ability has taken decades; however, there is now consensus that axons do indeed have the capacity for local translation, and that this capacity is even retained into adulthood. Accumulating evidence supports the role of locally synthesized proteins in the proper development, maintenance, and function of neurons, and newly emerging studies also suggest that disruption in this process has implications in a number of neurodevelopmental and neurodegenerative diseases...
November 7, 2017: Developmental Neurobiology
https://www.readbyqxmd.com/read/29105153/making-sense-of-antisense-oligonucleotides-a-narrative-review
#11
REVIEW
Neelam Goyal, Pushpa Narayanaswami
Synthetic nucleic acid sequences that bind to ribonucleic acid (RNA) through Watson-Crick base pairing are known as antisense oligonucleotides (ASOs) because they are complementary to "sense strand" nucleic acids. ASOs bind to selected sequences of RNA and regulate the expression of genes by several mechanisms depending on their chemical properties and targets. They can be used to restore deficient protein expression, reduce the expression of a toxic protein, modify functional effects of proteins or reduce toxicity of mutant proteins...
November 3, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/29103974/optimization-of-a-series-of-heterocycles-as-survival-motor-neuron-gene-transcription-enhancers
#12
Sungwoon Choi, Alyssa N Calder, Eliza H Miller, Kierstyn P Anderson, Dawid K Fiejtek, Anne Rietz, Hongxia Li, Jonathan J Cherry, Kevin M Quist, Xuechao Xing, Marcie A Glicksman, Gregory D Cuny, Christian L Lorson, Elliot A Androphy, Kevin J Hodgetts
Spinal muscular atrophy (SMA) is a neurodegenerative disorder that results from mutations in the SMN1 gene, leading to survival motor neuron (SMN) protein deficiency. One therapeutic strategy for SMA is to identify compounds that enhance the expression of the SMN2 gene, which normally only is a minor contributor to functional SMN protein production, but which is unaffected in SMA. A recent high-throughput screening campaign identified a 3,4-dihydro-4-phenyl-2(1H)-quinolinone derivative (2) that increases the expression of SMN2 by 2-fold with an EC50 = 8...
October 26, 2017: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/29102238/endocrinal-description-of-two-chinese-kennedy-s-disease-pedigrees
#13
Fang Li, Gulibositan Aji, Fei Leng, Jia-Chao Chen, Yu Luo, Jing Zhang, Ke Hu, Zi-Yun Cheng, Xi Xu, Zhi-Qiang Lu
Kennedy's disease (KD), also known as X-linked spinal and bulbar muscular atrophy (SBMA), is caused by the expansion of cytosine-adenine-guanine (CAG) repeats in the first exon of the androgen receptor (AR) gene. KD is a late-onset neural-endocrinal disease that is characterized by the degeneration of motor neurons in the brainstem and spinal cord. In addition, partial androgen insensitivity is an important manifestation of KD. Here, we report two Chinese KD pedigrees that reveal the clinical and genetic manifestations and fully elaborate the endocrinal characteristics of KD patients...
October 25, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29101527/-spinal-muscular-atrophy-time-for-newborn-screening
#14
REVIEW
K Vill, A Blaschek, U Schara, H Kölbel, K Hohenfellner, E Harms, B Olgemöller, Maggie C Walter, W Müller-Felber
The most common neurodegenerative disease in childhood is spinal muscular atrophy (SMA). The severe infantile type 1 (Werdnig-Hoffman disease) makes 60% of SMA in total. These children usually die within 18 months without ventilation. New therapeutic approaches have led from the theoretical concept to randomized controlled clinical trials in patients. For the first time, a pharmacological treatment of SMA has been approved. The early detection of the disease is decisive for the success of therapy. All previous data suggest starting treatment early and when possible prior to the onset of symptoms considerably improves the outcome in comparison to a delayed start...
November 3, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/29099150/expanded-carrier-screening-in-gamete-donors-of-venezuela
#15
Maria Teresa Urbina, Isaac Benjamin, Randolfo Medina, José Jiménez, Laura Trías, Jorge Lerner
OBJECTIVE: To discuss the implications of expanded genetic carrier screening for preconception purposes based on our practice. METHODS: One hundred and forty-three potential gamete donors aged 20-32 years old (µ=24, 127 females and 16 males), signed informed consent forms and were selected according to the REDLARA guidelines. Blood or saliva samples were examined by one of these genetic carrier screening methods: Genzyme screening for Cystic Fibrosis (CF), Fragile X and Spinal Muscular Atrophy (SMA); Counsyl Universal panel or Recombine Carrier Map...
November 3, 2017: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/29096367/electrochemical-immunosensors-for-the-detection-of-survival-motor-neuron-smn-protein-using-different-carbon-nanomaterials-modified-electrodes
#16
Shimaa Eissa, Nawal Alshehri, Anas M Abdel Rahman, Majed Dasouki, Khalid M Abu Salah, Mohammed Zourob
Spinal muscular atrophy is an untreatable potentially fatal hereditary disorder caused by loss-of-function mutations in the survival motor neuron (SMN) 1 gene which encodes the SMN protein. Currently, definitive diagnosis relies on the demonstration of biallelic pathogenic variants in SMN1 gene. Therefore, there is an urgent unmet need to accurately quantify SMN protein levels for screening and therapeutic monitoring of symptomatic newborn and SMA patients, respectively. Here, we developed a voltammetric immunosensor for the sensitive detection of SMN protein based on covalently functionalized carbon nanofiber-modified screen printed electrodes...
October 10, 2017: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/29095413/segmental-pedicle-screw-instrumentation-and-fusion-only-to-l5-in-the-surgical-treatment-of-flaccid-neuromuscular-scoliosis
#17
Masashi Takaso, Toshiyuki Nakazawa, Takayuki Imura, Michinari Fukuda, Kazuhisa Takahashi, Seiji Ohtori
STUDY DESIGN: A retrospective cohort study was performed. OBJECTIVE: The purpose of this study was to determine the efficacy and safety of stopping segmental pedicle screw instrumentation constructs at L5 in the treatment of neuromuscular scoliosis. SUMMARY OF BACKGROUND DATA: Duchenne muscular dystrophy and spinal muscular atrophy are flaccid neuromuscular disorders in which gradual deterioration is the hallmark and have a lot of characteristics in common despite differences in etiology...
October 31, 2017: Spine
https://www.readbyqxmd.com/read/29091570/nusinersen-versus-sham-control-in-infantile-onset-spinal-muscular-atrophy
#18
RANDOMIZED CONTROLLED TRIAL
Richard S Finkel, Eugenio Mercuri, Basil T Darras, Anne M Connolly, Nancy L Kuntz, Janbernd Kirschner, Claudia A Chiriboga, Kayoko Saito, Laurent Servais, Eduardo Tizzano, Haluk Topaloglu, Már Tulinius, Jacqueline Montes, Allan M Glanzman, Kathie Bishop, Z John Zhong, Sarah Gheuens, C Frank Bennett, Eugene Schneider, Wildon Farwell, Darryl C De Vivo
BACKGROUND: Spinal muscular atrophy is an autosomal recessive neuromuscular disorder that is caused by an insufficient level of survival motor neuron (SMN) protein. Nusinersen is an antisense oligonucleotide drug that modifies pre-messenger RNA splicing of the SMN2 gene and thus promotes increased production of full-length SMN protein. METHODS: We conducted a randomized, double-blind, sham-controlled, phase 3 efficacy and safety trial of nusinersen in infants with spinal muscular atrophy...
November 2, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/29091557/single-dose-gene-replacement-therapy-for-spinal-muscular-atrophy
#19
Jerry R Mendell, Samiah Al-Zaidy, Richard Shell, W Dave Arnold, Louise R Rodino-Klapac, Thomas W Prior, Linda Lowes, Lindsay Alfano, Katherine Berry, Kathleen Church, John T Kissel, Sukumar Nagendran, James L'Italien, Douglas M Sproule, Courtney Wells, Jessica A Cardenas, Marjet D Heitzer, Allan Kaspar, Sarah Corcoran, Lyndsey Braun, Shibi Likhite, Carlos Miranda, Kathrin Meyer, K D Foust, Arthur H M Burghes, Brian K Kaspar
BACKGROUND: Spinal muscular atrophy type 1 (SMA1) is a progressive, monogenic motor neuron disease with an onset during infancy that results in failure to achieve motor milestones and in death or the need for mechanical ventilation by 2 years of age. We studied functional replacement of the mutated gene encoding survival motor neuron 1 (SMN1) in this disease. METHODS: Fifteen patients with SMA1 received a single dose of intravenous adeno-associated virus serotype 9 carrying SMN complementary DNA encoding the missing SMN protein...
November 2, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/29091554/the-dilemma-of-two-innovative-therapies-for-spinal-muscular-atrophy
#20
EDITORIAL
Ans T van der Ploeg
New England Journal of Medicine, Volume 377, Issue 18, Page 1786-1787, November 2017.
November 2, 2017: New England Journal of Medicine
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