Read by QxMD icon Read

Spinal muscular atrophy

Pei-Jung Lin, Wei-Shi Yeh, Peter J Neumann
OBJECTIVES: The current US mandatory newborn screening panel does not include spinal muscular atrophy, the most common fatal genetic disease among children. We assessed population preferences for newborn screening for spinal muscular atrophy, and how test preferences varied depending on immediate treatment implications. METHODS: We conducted an online willingness-to-pay survey of US adults (n = 982). Respondents were asked to imagine being parents of a newborn...
September 15, 2016: Pediatric Neurology
Roberto De Sanctis, Giorgia Coratti, Amy Pasternak, Jacqueline Montes, Marika Pane, Elena S Mazzone, Sally Dunaway Young, Rachel Salazar, Janet Quigley, Maria C Pera, Laura Antonaci, Leonardo Lapenta, Allan M Glanzman, Danilo Tiziano, Francesco Muntoni, Basil T Darras, Darryl C De Vivo, Richard Finkel, Eugenio Mercuri
The aim of this retrospective multicentric study was to assess developmental milestones longitudinally in type I SMA infants using the Hammersmith Infant Neurological Examination. Thirty-three type I SMA infants, who classically do not achieve the ability to sit unsupported, were included in the study. Our results confirmed that all patients had a score of 0 out of a scale of 4 on items assessing sitting, rolling, crawling, standing or walking. A score of more than 0 was only achieved in three items: head control (n = 13), kicking (n = 15) and hand grasp (n = 18)...
October 5, 2016: Neuromuscular Disorders: NMD
Richard S Finkel, Kathie M Bishop, Robert M Nelson
The natural history of spinal muscular atrophy type I (SMA-I) has changed as improved medical support has become available. With investigational drugs for spinal muscular atrophy now in clinical trials, efficient trial design focuses on enrolling recently diagnosed infants, providing best available supportive care, and minimizing subject variation. The quandary has arisen whether it is ethically appropriate to specify a predefined level of nutritional and/or ventilation support for spinal muscular atrophy type I subjects while participating in these studies...
October 19, 2016: Journal of Child Neurology
Liang Li, Wan-Jun Zhou, Ping Fang, Ze-Yan Zhong, Jian-Sheng Xie, Ti-Zhen Yan, Jian Zeng, Xu-Hui Tan, Xiang-Min Xu
BACKGROUND: Spinal muscular atrophy (SMA) is mainly caused by deletions in SMA-related genes. The objective of this study was to develop gene-dosage assays for diagnosing SMA. METHODS: A multiplex, quantitative PCR assay and a CNVplex assay were developed for determining the copy number of SMN1, SMN2, and NAIP. Reproducibility and specificity of the two assays were compared to a multiple ligation-dependent probe amplification (MLPA) assay. To evaluate reproducibility, 30 samples were analyzed three times using the three assays...
October 18, 2016: Clinical Chemistry and Laboratory Medicine: CCLM
João Casaca-Carreira, Yasin Temel, Iñaki Larrakoetxea, Ali Jahanshahi
Antisense oligonucleotide (AON) therapy is emerging as a potential treatment strategy for neurodegenerative diseases, such as spinal muscular atrophy, Huntington's disease, and amyotrophic lateral sclerosis. AONs function at the cellular level by, for example, direct interference with the expression of gene products or the molecular activation of neuroprotective pathways. However, AON therapy faces a major obstacle limiting its clinical application for central nervous system (CNS) disorders: the blood-brain barrier...
October 18, 2016: Nucleic Acid Therapeutics
Gianina Ravenscroft, Nataliya Di Donato, Gabriele Hahn, Mark R Davis, Paul D Craven, Gemma Poke, Katherine R Neas, Teresa M Neuhann, William B Dobyns, Nigel G Laing
Autosomal dominantly inherited mutations of BICD2 are associated with congenital-onset spinal muscular atrophy characterised by lower limb predominance. A few cases have also showed upper motor neuron pathology, including presenting with features resembling hereditary spastic paraplegia. The age-of-onset for the published families is usually at birth but also included cases with childhood- and adult-onset disease. In this report we described two isolated probands that presented in utero with features associated with reduced fetal movements...
September 19, 2016: Neuromuscular Disorders: NMD
Jason Fleming, Dianna Quan
We present a patient with congenital spinal muscular atrophy associated with pain, subjective sensory loss, right talipes equinovarus, delayed walking, and progressive gait impairment. A sister and niece reportedly had Charcot-Marie-Tooth 1A, but the patient's electromyogram showed an axonal motor neuropathy or neuronopathy. We identified a c.806G>A TRPV4 gene mutation causing an Arg269His amino acid substitution. TRPV4 mutations cause variable phenotypes including axonal sensorimotor neuropathy and motor neuropathy or neuronopathy...
September 16, 2016: Neuromuscular Disorders: NMD
Yoshihiro Kino, Chika Washizu, Masaru Kurosawa, Mizuki Yamada, Hiroshi Doi, Toru Takumi, Hiroaki Adachi, Masahisa Katsuno, Gen Sobue, Geoffrey G Hicks, Nobutaka Hattori, Tomomi Shimogori, Nobuyuki Nukina
FUS/TLS is an RNA/DNA-binding protein associated with neurodegenerative diseases including amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Previously, we found that a prion-like domain in the N-terminus of FUS/TLS mediates co-aggregation between FUS/TLS and mutant huntingtin, the gene product of Huntington's disease (HD). Here, we show that heterozygous knockout of FUS/TLS worsened the phenotypes of model mice of (HD, but not spinal and bulbar muscular atrophy (SBMA). This difference was correlated with the degree of pathological association between disease proteins and FUS/TLS...
October 14, 2016: Scientific Reports
Sara K Custer, Timra D Gilson, Hongxia Li, A Gary Todd, Jacob W Astroski, Hai Lin, Yunlong Liu, Elliot J Androphy
Spinal muscular atrophy (SMA) is an intractable neurodegenerative disease afflicting 1 in 6-10,000 live births. One of the key functions of the SMN protein is regulation of spliceosome assembly. Reduced levels of the SMN protein that are observed in SMA have been shown to result in aberrant mRNA splicing. SMN-dependent mis-spliced transcripts in motor neurons may cause stresses that are particularly harmful and may serve as potential targets for the treatment of motor neuron disease or as biomarkers in the SMA patient population...
2016: PloS One
Eun Ji Ahn, Mi Sun Yum, Eun Hee Kim, Han Wook Yoo, Beom Hee Lee, Gu Hwan Kim, Tae Sung Ko
BACKGROUND AND PURPOSE: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. Most SMA patients have a homozygous deletion in survival of motor neuron 1 (SMN1) gene, and neuronal apoptosis inhibitory protein (NAIP) gene is considered a phenotype modifier. We investigated the genotype-phenotype correlation of SMN1 and NAIP deletions in Korean SMA patients. METHODS: Thirty-three patients (12 males and 21 females) treated at the Asan Medical Center between 1999 and 2013 were analyzed retrospectively...
October 7, 2016: Journal of Clinical Neurology
Alison K Thomson, Eilidh Somers, Rachael A Powis, Hannah K Shorrock, Kelley Murphy, Kathryn J Swoboda, Thomas H Gillingwater, Simon H Parson
Spinal muscular atrophy (SMA), traditionally described as a predominantly childhood form of motor neurone disease, is the leading genetic cause of infant mortality. Although motor neurones are undoubtedly the primary affected cell type, the severe infantile form of SMA (Type I SMA) is now widely recognised to represent a multisystem disorder where a variety of organs and systems in the body are also affected. Here, we report that the spleen is disproportionately small in the 'Taiwanese' murine model of severe SMA (Smn(-/-) ;SMN2(tg/0) ), correlated to low levels of cell proliferation and increased cell death...
October 11, 2016: Journal of Anatomy
Emel Oguz Akarsu, Pınar Tekturk, Zuhal Yapici, Fatih Tepgec, Z Oya Uyguner, Betul Baykan
No abstract text is available yet for this article.
September 23, 2016: Seizure: the Journal of the British Epilepsy Association
Elena S Mazzone, Anna Mayhew, Jacqueline Montes, Danielle Ramsey, Lavinia Fanelli, Sally Dunaway Young, Rachel Salazar, Roberto De Sanctis, Amy Pasternak, Allan Glanzman, Giorgia Coratti, Matthew Civitello, Nicola Forcina, Richard Gee, Tina Duong, Marika Pane, Mariacristina Scoto, Maria Carmela Pera, Sonia Messina, Gihan Tennekoon, John W Day, Basil T Darras, Darryl C De Vivo, Richard Finkel, Francesco Muntoni, Eugenio Mercuri
INTRODUCTION: There is a growing need for a robust clinical measure to assess upper limb motor function in spinal muscular atrophy (SMA), as the available scales lack sensitivity at the extremes of the clinical spectrum. We report the development of the Revised Upper Limb Module (RULM), an assessment specifically designed for upper limb function in SMA patients. METHODS: An international panel with specific neuromuscular expertise performed a thorough review of scales currently available to assess upper limb function in SMA...
October 4, 2016: Muscle & Nerve
Rachael A Powis, Evangelia Karyka, Penelope Boyd, Julien Côme, Ross A Jones, Yinan Zheng, Eva Szunyogova, Ewout J N Groen, Gillian Hunter, Derek Thomson, Thomas M Wishart, Catherina G Becker, Simon H Parson, Cécile Martinat, Mimoun Azzouz, Thomas H Gillingwater
The autosomal recessive neuromuscular disease spinal muscular atrophy (SMA) is caused by loss of survival motor neuron (SMN) protein. Molecular pathways that are disrupted downstream of SMN therefore represent potentially attractive therapeutic targets for SMA. Here, we demonstrate that therapeutic targeting of ubiquitin pathways disrupted as a consequence of SMN depletion, by increasing levels of one key ubiquitination enzyme (ubiquitin-like modifier activating enzyme 1 [UBA1]), represents a viable approach for treating SMA...
July 21, 2016: JCI Insight
Eva Szunyogova, Haiyan Zhou, Gillian K Maxwell, Rachael A Powis, Muntoni Francesco, Thomas H Gillingwater, Simon H Parson
Spinal Muscular Atrophy (SMA) is caused by mutation or deletion of the survival motor neuron 1 (SMN1) gene. Decreased levels of, cell-ubiquitous, SMN protein is associated with a range of systemic pathologies reported in severe patients. Despite high levels of SMN protein in normal liver, there is no comprehensive study of liver pathology in SMA. We describe failed liver development in response to reduced SMN levels, in a mouse model of severe SMA. The SMA liver is dark red, small and has: iron deposition; immature sinusoids congested with blood; persistent erythropoietic elements and increased immature red blood cells; increased and persistent megakaryocytes which release high levels of platelets found as clot-like accumulations in the heart...
October 4, 2016: Scientific Reports
Victoria Goeckmann, Sophie Rothammer, Ivica Medugorac
Bovine spastic paresis (BSP) is a sporadic, progressive neuromuscular disease that is thought to affect all breeds of cattle. The disease manifests as a unilateral or bilateral hyperextension of the hind limb due to increased muscle tone or permanent spasm of mainly the gastrocnemius and/or the quadriceps muscle. Clinical signs only appear in rising, standing and moving animals, which is an important diagnostic feature. Although several medical treatments have been described, surgical procedures such as neurectomy or tenectomy are generally indicated...
October 2016: Veterinary Journal
Maryam Oskoui, Pamela Ng, Stephen Liben, David Zielinski
BACKGROUND: Increasing numbers of families are requesting active supportive management for their child with spinal muscular atrophy type 1 (SMA1), leading to longer survival and greater prevalence of affected children. Strong opinions exist among physicians for and against the provision of care measures prolonging life. OBJECTIVE: To describe current practice in the care of SMA1 in Canada, and explore the factors underlying inter-physician variability. METHODS: A cross-sectional survey of Canadian hospital-based pediatric neurologists and pediatric respirologists was performed in 2015...
September 29, 2016: Pediatric Pulmonology
Elisa Giorgetti, Zhigang Yu, Jason P Chua, Ryosuke Shimamura, Lili Zhao, Fan Zhu, Sriram Venneti, Maria Pennuto, Yuanfang Guan, Gene Hung, Andrew P Lieberman
Spinal and bulbar muscular atrophy (SBMA), a progressive degenerative disorder, is caused by a CAG/glutamine expansion in the androgen receptor (polyQ AR). Recent studies demonstrate that skeletal muscle is an important site of toxicity that contributes to the SBMA phenotype. Here, we sought to identify critical pathways altered in muscle that underlie disease manifestations in AR113Q mice. This led to the unanticipated identification of gene expression changes affecting regulators of carbohydrate metabolism, similar to those triggered by denervation...
September 27, 2016: Cell Reports
Rebecca Sauvagnac-Quera, Charlotte Vabre, Viviane Azzi, Stéphane Tirolien, Nathalie Leiba, Frédéric Poisson, Lotfi Miladi, Robert Carlier, Christophe Glorion, Danielle Leclair, Brigitte Estournet, Susana Quijano-Roy
OBJECTIVE: To evaluate the effectiveness of use of Garches Brace (GB) on prevention and treatment of scoliosis and its impact on quality of life, in a group of patients with spinal muscular atrophy (SMA) type Ib. MATERIAL/PATIENTS AND METHODS: We identified 102 patients with SMA not acquiring sitting position, but acquiring head dress (type Ib SMA) followed at our center between 1975 and 2009. We reviewed the charts and identified 25 patients that were treated by GB and had a follow-up in our department of three years or more...
September 2016: Annals of Physical and Rehabilitation Medicine
Carole Vuillerot, D Vincent-Genod, G Thomann, J Coton
OBJECTIVE: Physiotherapists are demanding of valid outcome measures to assess the evolution of their patient's motor functions in order to precisely describe the effects of treatments and the progress of diseases. Hence, several scales such as the motor function measure (MFM) have been developed with the aim to measure, with validity and reproducibility and sensitivity, the motor functions of patients with neuromuscular disease. The originality of our approach is to quantitatively measure the children's motor functions with a low-cost, non-invasive and plug and play technological tool that avoid the uncertain characteristic of human evaluation and increase children's involvement...
September 2016: Annals of Physical and Rehabilitation Medicine
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"