keyword
MENU ▼
Read by QxMD icon Read
search

Spinal Muscle Atrophy

keyword
https://www.readbyqxmd.com/read/29781327/the-progress-of-aav-mediated-gene-therapy-in-neuromuscular-disorders
#1
Sara Aguti, Alberto Malerba, Haiyan Zhou
The well-defined genetic causes and monogenetic nature of many neuromuscular disorders, including Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA), present gene therapy as a prominent therapeutic approach. The novel variants of adeno-associated virus (AAV) can achieve satisfactory transduction efficiency of exogenous genes through the central nervous system and body-wide in skeletal muscle. Areas covered: In this review, we summarize the strategies of AAV gene therapy that are currently under preclinical and clinical evaluation for the treatment of degenerative neuromuscular disorders, with a focus on diseases such as DMD and SMA...
May 20, 2018: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/29780939/sixth-cranial-nerve-palsy-and-ipsilateral-trigeminal-neuralgia-caused-by-vertebrobasilar-dolichoectasia
#2
Thong Pham, Jeffrey Wesolowski, Jonathan D Trobe
Purpose: To report an unusual case of vertebrobasilar dolichoectasia causing both trigeminal neuralgia and ipsilateral sixth cranial nerve palsy. Observations: A patient had undergone surgical decompression of trigeminal neuralgia caused by dolichoectatic vertebral and basilar arteries years before presenting with ipsilateral sixth nerve palsy. Brain MRI showed deviant vertebrobasilar arteries that presumably now compressed the sixth cranial nerve. The unaffected left sixth cranial nerve was visible on MRI, but the affected right sixth cranial nerve was not...
June 2018: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29779597/amyotrophic-lateral-sclerosis-and-the-respiratory-system
#3
REVIEW
Andrew T Braun, Candelaria Caballero-Eraso, Noah Lechtzin
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder that always affects the respiratory muscles. It is characterized by degeneration of motor neurons in the brain and spinal cord. Respiratory complications are the most common causes of death in ALS and typically occur within 3 to 5 years of diagnosis. Because ALS affects both upper and lower motor neurons, it causes hyperreflexia, spasticity, muscle fasciculations, muscle atrophy, and weakness. It ultimately progresses to functional quadriplegia...
June 2018: Clinics in Chest Medicine
https://www.readbyqxmd.com/read/29777277/impact-of-muscle-atrophy-on-bone-metabolism-and-bone-strength-implications-for-muscle-bone-crosstalk-with-aging-and-disuse
#4
REVIEW
T Bettis, B-J Kim, M W Hamrick
Bone fractures in older adults are often preceded by a loss of muscle mass and strength. Likewise, bone loss with prolonged bed rest, spinal cord injury, or with exposure to microgravity is also preceded by a rapid loss of muscle mass. Recent studies using animal models in the setting of hindlimb unloading or botulinum toxin (Botox) injection also reveal that muscle loss can induce bone loss. Moreover, muscle-derived factors such as irisin and leptin can inhibit bone loss with unloading, and knockout of catabolic factors in muscle such as the ubiquitin ligase Murf1 or the myokine myostatin can reduce osteoclastogenesis...
May 18, 2018: Osteoporosis International
https://www.readbyqxmd.com/read/29772368/volumetric-muscle-measurements-indicate-significant-muscle-degeneration-in-single-level-disc-herniation-patients
#5
Kaan Yaltırık, Burhan Oral Güdü, Yüksel Işık, Çiğdem Altunok, Ufuk Tipi, Başar Atalay
INTRODUCTION: There is a strong relationship between lower back pain and paraspinal muscle atrophy. In this study, we aimed to investigate the prevalence of lumbar paravertebral muscle atrophy in patients with and without single level disc herniation. MATERIALS AND METHODS: The 110 retrospectively analyzed patients in this study were divided into two groups. Group A included 55 patients with radiologically confirmed single level disc herniation with back pain and radiculopathy...
May 14, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29767748/glial-activation-and-central-synapse-loss-but-not-motoneuron-degeneration-are-prevented-by-the-sigma-1-receptor-agonist-pre-084-in-the-smn2b-mouse-model-of-spinal-muscular-atrophy
#6
Clàudia Cerveró, Alba Blasco, Olga Tarabal, Anna Casanovas, Lídia Piedrafita, Xavier Navarro, Josep E Esquerda, Jordi Calderó
Spinal muscular atrophy (SMA) is characterized by the loss of α-motoneurons (MNs) with concomitant muscle denervation. MN excitability and vulnerability to disease are particularly regulated by cholinergic synaptic afferents (C-boutons), in which Sigma-1 receptor (Sig1R) is concentrated. Alterations in Sig1R have been associated with MN degeneration. Here, we investigated whether a chronic treatment with the Sig1R agonist PRE-084 was able to exert beneficial effects on SMA. We used a model of intermediate SMA, the Smn2B/- mouse, in which we performed a detailed characterization of the histopathological changes that occur throughout the disease...
May 14, 2018: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/29761130/spinal-muscular-atrophy-with-respiratory-distress-type-1-a-child-with-atypical-presentation
#7
Annie Ting Gee Chiu, Sophelia Hoi Shan Chan, Shun Ping Wu, Shun Hin Ting, Brian Hon Yin Chung, Angel On Kei Chan, Virginia Chun Nei Wong
The authors report a child with spinal muscular atrophy with respiratory distress type 1 (SMARD1). She presented atypically with hypothyroidism and heart failure due to septal defects that required early heart surgery and microcephaly in association with cerebral atrophy and thin corpus collosum. The subsequent asymmetrical onset of diaphragmatic paralysis, persistent hypotonia, and generalized muscle weakness led to the suspicion of spinal muscular atrophy with respiratory distress type 1. Sanger sequencing confirmed a compound heterozygous mutation in the Immunoglobulin Mu Binding Protein 2 (IGHMBP2) gene, with a known mutation c...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29735415/interventions-targeting-glucocorticoid-kr%C3%A3-ppel-like-factor-15-branched-chain-amino-acid-signaling-improve-disease-phenotypes-in-spinal-muscular-atrophy-mice
#8
Lisa M Walter, Marc-Olivier Deguise, Katharina E Meijboom, Corinne A Betts, Nina Ahlskog, Tirsa L E van Westering, Gareth Hazell, Emily McFall, Anna Kordala, Suzan M Hammond, Frank Abendroth, Lyndsay M Murray, Hannah K Shorrock, Domenick A Prosdocimo, Saptarsi M Haldar, Mukesh K Jain, Thomas H Gillingwater, Peter Claus, Rashmi Kothary, Matthew J A Wood, Melissa Bowerman
The circadian glucocorticoid-Krüppel-like factor 15-branched-chain amino acid (GC-KLF15-BCAA) signaling pathway is a key regulatory axis in muscle, whose imbalance has wide-reaching effects on metabolic homeostasis. Spinal muscular atrophy (SMA) is a neuromuscular disorder also characterized by intrinsic muscle pathologies, metabolic abnormalities and disrupted sleep patterns, which can influence or be influenced by circadian regulatory networks that control behavioral and metabolic rhythms. We therefore set out to investigate the contribution of the GC-KLF15-BCAA pathway in SMA pathophysiology of Taiwanese Smn-/- ;SMN2 and Smn2B/- mouse models...
May 4, 2018: EBioMedicine
https://www.readbyqxmd.com/read/29732581/discrete-mitochondrial-aberrations-in-the-spinal-cord-of-sporadic-als-patients
#9
Vedad Delic, Crupa Kurien, Josean Cruz, Sandra Zivkovic, Jennifer Barretta, Avery Thomson, Daniel Hennessey, Jaheem Joseph, Jared Ehrhart, Alison E Willing, Patrick Bradshaw, Svitlana Garbuzova-Davis
Amyotrophic lateral sclerosis (ALS) is an adult onset neurodegenerative disease characterized by progressive motor neuron degeneration in the brain and spinal cord leading to muscle atrophy, paralysis, and death. Mitochondrial dysfunction is a major contributor to motor neuron degeneration associated with ALS progression. Mitochondrial abnormalities have been determined in spinal cords of animal disease models and ALS patients. However, molecular mechanisms leading to mitochondrial dysfunction in sporadic ALS (sALS) patients remain unclear...
May 6, 2018: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/29727687/variants-in-exosc9-disrupt-the-rna-exosome-and-result-in-cerebellar-atrophy-with-spinal-motor-neuronopathy
#10
David T Burns, Sandra Donkervoort, Juliane S Müller, Ellen Knierim, Diana Bharucha-Goebel, Eissa Ali Faqeih, Stephanie K Bell, Abdullah Y AlFaifi, Dorota Monies, Francisca Millan, Kyle Retterer, Sarah Dyack, Sara MacKay, Susanne Morales-Gonzalez, Michele Giunta, Benjamin Munro, Gavin Hudson, Mena Scavina, Laura Baker, Tara C Massini, Monkol Lek, Ying Hu, Daniel Ezzo, Fowzan S AlKuraya, Peter B Kang, Helen Griffin, A Reghan Foley, Markus Schuelke, Rita Horvath, Carsten G Bönnemann
The exosome is a conserved multi-protein complex that is essential for correct RNA processing. Recessive variants in exosome components EXOSC3, EXOSC8, and RBM7 cause various constellations of pontocerebellar hypoplasia (PCH), spinal muscular atrophy (SMA), and central nervous system demyelination. Here, we report on four unrelated affected individuals with recessive variants in EXOSC9 and the effect of the variants on the function of the RNA exosome in vitro in affected individuals' fibroblasts and skeletal muscle and in vivo in zebrafish...
May 3, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29718187/mutations-in-coa7-cause-spinocerebellar-ataxia-with-axonal-neuropathy
#11
Yujiro Higuchi, Ryuta Okunushi, Taichi Hara, Akihiro Hashiguchi, Junhui Yuan, Akiko Yoshimura, Kei Murayama, Akira Ohtake, Masahiro Ando, Yu Hiramatsu, Satoshi Ishihara, Hajime Tanabe, Yuji Okamoto, Eiji Matsuura, Takehiro Ueda, Tatsushi Toda, Sumimasa Yamashita, Kenichiro Yamada, Takashi Koide, Hiroaki Yaguchi, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Ken Sato, Masanori Nakagawa, Masamitsu Yamaguchi, Shoji Tsuji, Hiroshi Takashima
Several genes related to mitochondrial functions have been identified as causative genes of neuropathy or ataxia. Cytochrome c oxidase assembly factor 7 (COA7) may have a role in assembling mitochondrial respiratory chain complexes that function in oxidative phosphorylation. Here we identified four unrelated patients with recessive mutations in COA7 among a Japanese case series of 1396 patients with Charcot-Marie-Tooth disease (CMT) or other inherited peripheral neuropathies, including complex forms of CMT...
April 27, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29710025/-a-survivor-of-hodgkin-lymphoma-manifesting-dropped-head-syndrome-as-a-late-onset-complication-of-radiotherapy-a-case-report
#12
Misako Kaido, Yoshihito Yuasa, Hiroshi Ikeda
We report the case of a 50-year-old female survivor of Hodgkin lymphoma (HL), who developed dropped head syndrome (DHS). The patient was diagnosed with HL at 20 years of age, and underwent chemo-radiotherapy, which led to complete remission. Undergoing supplemental therapy for post-radiation hypothyroidism, she had twin babies. She noticed white stains on her neck at the age of 30, and the decolored area gradually expanded. Sixteen years after the radiotherapy (RT), her posterior neck muscle strength began to decline...
April 28, 2018: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/29703692/new-and-developing-therapies-in-spinal-muscular-atrophy
#13
REVIEW
Didu Kariyawasam, Kate A Carey, Kristi J Jones, Michelle A Farrar
Great progress has been made in the clinical translation of several therapeutic strategies for spinal muscular atrophy (SMA), including measures to selectively address Survival Motor Neuron (SMN) protein deficiency with SMN1 gene replacement or modulation of SMN2 encoded protein levels, as well as neuroprotective approaches and supporting muscle strength and function. This review highlights these novel therapies. This is particularly vital with the advent of the first disease modifying therapy, which has brought to the fore an array of questions surrounding who, how and when to treat, and stimulated challenges in resource limited healthcare systems to streamline access for those eligible for drug therapy...
April 5, 2018: Paediatric Respiratory Reviews
https://www.readbyqxmd.com/read/29689734/evaluation-of-children-with-sma-type-1-under-treatment-with-nusinersen-within-the-expanded-access-program-in-germany
#14
Astrid Pechmann, Thorsten Langer, David Schorling, Sabine Stein, Sibylle Vogt, Ulrike Schara, Heike Kölbel, Oliver Schwartz, Andreas Hahn, Kerstin Giese, Jessika Johannsen, Jonas Denecke, Claudia Weiß, Manuela Theophil, Janbernd Kirschner
BACKGROUND: Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by muscle weakness and muscle atrophy. Nusinersen acts as a splicing modifier and has recently been approved for intrathecal treatment of SMA. OBJECTIVE: Prior to approval, nusinersen was provided to patients with SMA type 1 in Germany within an Expanded Access Program (EAP). In contrast to previous clinical trials, children of different age groups and different stages of the disease were treated with nusinersen...
April 16, 2018: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29687968/spinal-bracing-and-lung-function-in-type-2-spinal-muscular-atrophy
#15
Chiara Di Pede, Eleonora Salamon, Matteo Motta, Caterina Agosto, Franca Benini, Adriano Ferrari
BACKGROUND: Respiratory muscle weakness associated with scoliosis in type-2 spinal muscular atrophy (SMA) leads to respiratory impairment. Spinal brace, generally utilized to slow scoliosis progression and support sitting, could worsen lung function and hamper cough maneuvers. CASE SERIES: Six home-treated type-2 SMA children (aged 6 -15 years, subtype 2.1-2.5) were assessed to evaluate time-dependent influence of "static-balanced brace" on pulmonary function...
April 24, 2018: European Journal of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/29686823/two-years-of-functional-electrical-stimulation-by-large-surface-electrodes-for-denervated-muscles-improve-skin-epidermis-in-sci
#16
Giovanna Albertin, Helmut Kern, Christian Hofer, Diego Guidolin, Andrea Porzionato, Anna Rambaldo, Raffaele De Caro, Francesco Piccione, Andrea Marcante, Sandra Zampieri
Our previous studies have shown that severely atrophic Quadriceps muscles of spinal cord injury (SCI) patients suffering with complete conus and cauda equina lesions, and thus with permanent denervation-induced atrophy and degeneration of muscle fibers, were almost completely rescued to normal size after two years of home-based Functional Electrical Stimulation (h-bFES). Since we used large surface electrodes to stimulate the thigh muscles, we wanted to know if the skin was affected by long-term treatment. Here we report preliminary data of morphometry of skin biopsies harvested from legs of 3 SCI patients before and after two years of h-bFES to determine the total area of epidermis in transverse skin sections...
January 12, 2018: European Journal of Translational Myology
https://www.readbyqxmd.com/read/29659444/cerebellar-transcranial-magnetic-stimulation-facilitates-excitability-of-spinal-reflex-but-does-not-affect-cerebellar-inhibition-and-facilitation-in-spinocerebellar-ataxia
#17
Akiyoshi Matsugi, Yutaka Kikuchi, Kenta Kaneko, Yuta Seko, Masato Odagaki
Transcranial magnetic stimulation (TMS) over the cerebellum facilitates the spinal reflex in healthy humans. The aim of this study was to investigate whether such cerebellar spinal facilitation (CSpF) appears in patients with spinocerebellar ataxia (SCA) presenting with atrophy in the cerebellar gray matter and dentate nucleus. One patient with SCA type 6 and another with SCA type 31 participated in this study. TMS over the right primary motor cortex was used to induce motor-evoked potentials in the right first dorsal interosseous muscle, which were detected using electromyography...
April 13, 2018: Neuroreport
https://www.readbyqxmd.com/read/29649521/modelling-motor-neuron-disease-in-fruit-flies-lessons-from-spinal-muscular-atrophy
#18
Beppe Aquilina, Ruben J Cauchi
Motor neuron disease (MND) is characterised by muscle weakness and paralysis downstream of motor neuron degeneration. Genetic factors play a major role in disease pathogenesis and progression. This is best underscored by spinal muscular atrophy (SMA), the most common MND affecting children. Although SMA is caused by homozygous mutations in the survival motor neuron 1 (SMN1) gene, partial compensation by the paralogous SMN2 gene and/or genetic modifiers influence age of onset and disease severity. SMA is also the first MND that is treatable thanks to the recent development of a molecular-based therapy...
April 9, 2018: Journal of Neuroscience Methods
https://www.readbyqxmd.com/read/29627031/pregnancy-outcomes-in-women-with-spinal-muscular-atrophy-a-review
#19
REVIEW
Elena Abati, Stefania Corti
Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by muscle weakness and atrophy resulting from progressive degeneration and loss of the anterior horn cells in the spinal cord and brain stem nuclei. The onset of weakness ranges from prenatal age to young adulthood. Thus, many female patients reach fertile age and may consider getting pregnant. However, only little information is available about outcomes and complications of pregnancy in women with SMA. In this review, we compared different studies on the subject, then we analyzed outcomes in the different stages of the pregnancy (preconceptional period, embryonal period, fetal period, delivery and post partum), with a special focus on maternal and fetal complications, prematurity, mode of delivery, anesthesiological risk, respiratory function and influence of pregnancy on the disease course...
May 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29581609/%C3%AF-editors-choice%C3%AF-surgical-outcomes-of-decompressive-laminoplasty-with-spinous-process-osteotomy-to-treat-lumbar-spinal-stenosis
#20
Shunsuke Kanbara, Testuya Urasaki, Hiroyuki Tomita, Kei Ando, Kazuyoshi Kobayashi, Kenyu Ito, Mikito Tsushima, Akiyuki Matsumoto, Masayoshi Morozumi, Satoshi Tanaka, Kyotaro Ota, Masaaki Machino, Sadayuki Ito, Yoshihiro Nishida, Naoki Ishiguro, Shiro Imagama
Decompressive laminoplasty with spinous process osteotomy (LSPO) was developed as a less invasive procedure for lumbar decompression by Weiner et al. There are few reports extensively highlighting the surgical outcomes of LSPO. The purpose of this study was to evaluate the surgical outcomes of LSPO for lumbar spinal stenosis (LSS). In total, 23 patients with LSS were studied. All patients were followed up for more than 2 years. The Japanese Orthopedic Association (JOA) scores, the recovery rate (RR) of JOA scores, Visual analog scale (VAS) scores, responses to the JOA Back Pain Evaluation Questionnaire (JOABPEQ), sagittal alignment and segmental motion following LSPO were assessed preoperatively and 2 years postoperatively...
February 2018: Nagoya Journal of Medical Science
keyword
keyword
94740
1
2
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"