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Spinal Muscle Atrophy

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https://www.readbyqxmd.com/read/28237315/loss-of-spatacsin-function-alters-lysosomal-lipid-clearance-leading-to-upper-and-lower-motor-neuron-degeneration
#1
Julien Branchu, Maxime Boutry, Laura Sourd, Marine Depp, Céline Leone, Alexandrine Corriger, Maeva Vallucci, Typhaine Esteves, Raphaël Matusiak, Magali Dumont, Marie-Paule Muriel, Filippo M Santorelli, Alexis Brice, Khalid Hamid El Hachimi, Giovanni Stevanin, Frédéric Darios
Mutations in SPG11 account for the most common form of autosomal recessive hereditary spastic paraplegia (HSP), characterized by a gait disorder associated with various brain alterations. Mutations in the same gene are also responsible for rare forms of Charcot-Marie-Tooth (CMT) disease and progressive juvenile-onset amyotrophic lateral sclerosis (ALS). To elucidate the physiopathological mechanisms underlying these human pathologies, we disrupted the Spg11 gene in mice by inserting stop codons in exon 32, mimicking the most frequent mutations found in patients...
February 22, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28229309/nusinersen-first-global-approval
#2
Sheridan M Hoy
Spinal muscular atrophy (SMA) is a rare autosomal recessive disorder characterized by muscle atrophy and weakness resulting from motor neuron degeneration in the spinal cord and brainstem. It is most commonly caused by insufficient levels of survival motor neuron (SMN) protein (which is critical for motor neuron maintenance) secondary to deletions or mutations in the SMN1 gene. Nusinersen (SPINRAZA™) is a modified antisense oligonucleotide that binds to a specific sequence in the intron, downstream of exon 7 on the pre-messenger ribonucleic acid (pre-mRNA) of the SMN2 gene...
February 22, 2017: Drugs
https://www.readbyqxmd.com/read/28229243/correlation-of-insulin-resistance-and-motor-function-in-spinal-and-bulbar-muscular-atrophy
#3
Hideaki Nakatsuji, Amane Araki, Atsushi Hashizume, Yasuhiro Hijikata, Shinichiro Yamada, Tomonori Inagaki, Keisuke Suzuki, Haruhiko Banno, Noriaki Suga, Yohei Okada, Manabu Ohyama, Tohru Nakagawa, Ken Kishida, Tohru Funahashi, Iichiro Shimomura, Hideyuki Okano, Masahisa Katsuno, Gen Sobue
This study aimed to evaluate various metabolic parameters in patients with spinal and bulbar muscular atrophy (SBMA), to investigate the association between those indices and disease severity, and to explore the underlying molecular pathogenesis. We compared the degree of obesity, metabolic parameters, and blood pressure in 55 genetically confirmed SBMA patients against those in 483 age- and sex-matched healthy control. In SBMA patients, we investigated the correlation between these factors and motor functional indices...
February 22, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28218388/the-new-neuromuscular-disease-related-with-defects-in-the-asc-1-complex-report-of-a-second-case-confirms-ascc1-involvement
#4
Jorge Oliveira, Márcia Martins, Rosário Pinto Leite, Mário Sousa, Rosário Santos
Next-generation sequencing technology aided the identification of the underlying genetic cause in a female newborn with a severe neuromuscular disorder. The patient presented generalized hypotonia, congenital bone fractures, lack of spontaneous movements and poor respiratory effort. She died within the first days of life. Karyotyping and screening for several genes related with neuromuscular diseases all tested negative. A male sibling was subsequently born with the same clinical presentation. Whole-exome sequencing was performed with variant filtering assuming a recessive disease model...
February 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28207658/association-between-paraspinal-muscle-morphology-clinical-symptoms-and-functional-status-in-patients-with-degenerative-cervical-myelopathy
#5
Maryse Fortin, Octavian Dobrescu, Matthew Courtemanche, Carolyn J Sparrey, Carlo Santaguida, Michael G Fehlings, Michael H Weber
STUDY DESIGN: A cross-sectional study. OBJECTIVE: The aim of this study was to assess fatty infiltration and asymmetry of the multifidus (MF), semispinalis cervicis (SCer), semispinalis capitis (SCap), and splenius capitis (SPL) muscles in patients with degenerative cervical myelopathy (DCM), and evaluate their correlations with clinical symptoms and functional scores. SUMMARY OF BACKGROUND DATA: Cervical muscle alterations have been reported in patients with chronic neck pain, but the assessment of cervical muscle morphology has been overlooked in patients with DCM...
February 15, 2017: Spine
https://www.readbyqxmd.com/read/28207618/magnetic-resonance-imaging-evaluation-of-the-effects-of-surgical-invasiveness-on-paravertebral-muscles-after-muscle-preserving-interlaminar-decompression-mild
#6
Hitoshi Tonomura, Yoichiro Hatta, Yasuo Mikami, Takumi Ikeda, Tomohisa Harada, Masateru Nagae, Hironori Koike, Hitoshi Hase, Toshikazu Kubo
STUDY DESIGN: This is a retrospective study. OBJECTIVES: The aim of this study was to determine the extent of damage to the paravertebral muscles after muscle-preserving interlaminar decompression (MILD) using magnetic resonance imaging to evaluate changes in the multifidus muscle (MF). SUMMARY OF BACKGROUND DATA: Short-term surgical outcomes of MILD for lumbar spinal canal stenosis (LSCS) are satisfactory; however, the extent of damage to the paravertebral muscles after MILD remains unclear...
March 2017: Clinical Spine Surgery
https://www.readbyqxmd.com/read/28207315/diagnosis-of-lumbosacral-diskospondylosis-in-a-bucking-bull-assisted-by-high-definition-thermal-and-nuclear-scintigraphic-imaging
#7
Marc Caldwell, Thomas Passler, Ram C Purohit, David Pascoe, Dwight F Wolfe
CASE DESCRIPTION An 8-year-old Brahman-cross bull was evaluated for left hind limb lameness of 2 months' duration. The lameness was first noticed during a rodeo bucking performance, immediately after the bull appeared to land inappropriately on the affected limb. CLINICAL FINDINGS Physical examination findings revealed left hind limb lameness, ataxia, and left-sided epaxial muscle atrophy. Palpation per rectum along the lumbar portion of the vertebral column revealed evidence of exostosis of the ventral aspect...
March 1, 2017: Journal of the American Veterinary Medical Association
https://www.readbyqxmd.com/read/28197201/-three-methods-and-three-points-regulates-p38-mitogen-activated-protein-kinase-in-the-dorsal-horn-of-the-spinal-cord-in-a-rat-model-of-sciatic-nerve-injury
#8
Xin Guo, Tian-Yuan Yu, Wong Steven, Wen-Duan Jia, Chi Ma, Yan-Hong Tao, Chao Yang, Tao-Tao Lv, Shuai Wu, Meng-Qian Lu, Jia-Li Liu
Tuina is a traditional Chinese treatment for sensory disturbances caused by peripheral nerve injury and related diseases. Our previous studies showed that tuina regulates relevant regions and indices of the spinal dorsal horn using the Dian, Bo, and Rou method in Yinmen (BL37), Yanglingquan (GB34), and Weizhong (BL40). Treatment prevents muscle atrophy, protects spinal cord neurons, and promotes sciatic nerve repair. The mechanisms of action of tuina for treating peripheral nerve injury remain poorly understood...
December 2016: Neural Regeneration Research
https://www.readbyqxmd.com/read/28193782/mitochondrial-mass-and-activity-as-a-function-of-body-composition-in-individuals-with-spinal-cord-injury
#9
Laura C O'Brien, Rodney C Wade, Liron Segal, Qun Chen, Jeannie Savas, Edward J Lesnefsky, Ashraf S Gorgey
Spinal cord injury (SCI) is accompanied by deterioration in body composition and severe muscle atrophy. These changes put individuals at risk for insulin resistance, type II diabetes, and cardiovascular disease. To determine the relationships between skeletal muscle mitochondrial mass, activity, and body composition, 22 men with motor complete SCI were studied. Body composition assessment was performed using dual-energy X-ray absorptiometry and magnetic resonance imaging. Skeletal muscle biopsies were obtained from the vastus lateralis muscle to measure citrate synthase (CS) and complex III (CIII) activity...
February 2017: Physiological Reports
https://www.readbyqxmd.com/read/28180981/does-pre-operative-magnetic-resonance-imaging-of-the-lumbar-multifidus-muscle-predict-clinical-outcomes-following-lumbar-spinal-decompression-for-symptomatic-spinal-stenosis
#10
Mario G T Zotti, F Vilas Boas, T Clifton, M Piche, W W Yoon, B J C Freeman
PURPOSE: To investigate whether pre-operative magnetic resonance imaging (MRI) of the lumbar multifidus muscle (LMM) would predict clinical outcomes following lumbar spinal decompression for symptomatic spinal stenosis. METHODS: A prospective cohort of patients with symptomatic neurogenic claudication, documented spinal stenosis on pre-operative MRI underwent spinal decompression. All subjects completed standardised outcome measures (Core Outcome Measures Index (COMI), Oswestry Disability Index (ODI v2...
February 8, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28161391/spinal-muscular-atrophy-factors-that-modulate-motor-neurone-vulnerability
#11
REVIEW
Wen-Yo Tu, Julie E Simpson, J Robin Highley, Paul R Heath
Spinal muscular atrophy (SMA), a leading genetic cause of infant death, is a neurodegenerative disease characterised by the selective loss of particular groups of motor neurones in the anterior horn of the spinal cord with concomitant muscle weakness. To date, no effective treatment is available, however, there are ongoing clinical trials are in place which promise much for the future. However, there remains an ongoing problem in trying to link a single gene loss to motor neurone degeneration. Fortunately, given successful disease models that have been established and intensive studies on SMN functions in the past ten years, we are fast approaching the stage of identifying the underlying mechanisms of SMA pathogenesis Here we discuss potential disease modifying factors on motor neurone vulnerability, in the belief that these factors give insight into the pathological mechanisms of SMA and therefore possible therapeutic targets...
February 1, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28118087/identification-of-a-peptide-for-systemic-brain-delivery-of-a-morpholino-oligonucleotide-in-mouse-models-of-spinal-muscular-atrophy
#12
Fazel Shabanpoor, Suzan M Hammond, Frank Abendroth, Gareth Hazell, Matthew J A Wood, Michael J Gait
Splice-switching antisense oligonucleotides are emerging treatments for neuromuscular diseases, with several splice-switching oligonucleotides (SSOs) currently undergoing clinical trials such as for Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA). However, the development of systemically delivered antisense therapeutics has been hampered by poor tissue penetration and cellular uptake, including crossing of the blood-brain barrier (BBB) to reach targets in the central nervous system (CNS)...
January 24, 2017: Nucleic Acid Therapeutics
https://www.readbyqxmd.com/read/28117338/beta-agonist-stimulation-ameliorates-the-phenotype-of-spinal-and-bulbar-muscular-atrophy-mice-and-patient-derived-myotubes
#13
Carmelo Milioto, Adriana Malena, Eleonora Maino, Maria J Polanco, Caterina Marchioretti, Doriana Borgia, Marcelo Gomes Pereira, Bert Blaauw, Andrew P Lieberman, Roberta Venturini, Mario Plebani, Fabio Sambataro, Lodovica Vergani, Elena Pegoraro, Gianni Sorarù, Maria Pennuto
Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease characterized by the loss of lower motor neurons. SBMA is caused by expansions of a polyglutamine tract in the gene coding for androgen receptor (AR). Expression of polyglutamine-expanded AR causes damage to motor neurons and skeletal muscle cells. Here we investigated the effect of β-agonist stimulation in SBMA myotube cells derived from mice and patients, and in knock-in mice. We show that treatment of myotubes expressing polyglutamine-expanded AR with the β-agonist clenbuterol increases their size...
January 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28108555/immune-dysregulation-may-contribute-to-disease-pathogenesis-in-spinal-muscular-atrophy-mice
#14
Marc-Olivier Deguise, Yves De Repentigny, Emily McFall, Nicole Auclair, Subash Sad, Rashmi Kothary
Spinal muscular atrophy (SMA) has long been solely considered a neurodegenerative disorder. However, recent work has highlighted defects in many other cell types that could contribute to disease aetiology. Interestingly, the immune system has never been extensively studied in SMA. Defects in lymphoid organs could exacerbate disease progression by neuroinflammation or immunodeficiency. Smn depletion led to severe alterations in the thymus and spleen of two different mouse models of SMA. The spleen from Smn depleted mice was dramatically smaller at a very young age and its histological architecture was marked by mislocalization of immune cells in the Smn(2B/-) model mice...
January 19, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28087734/increased-mitophagy-in-the-skeletal-muscle-of-spinal-and-bulbar-muscular-atrophy-patients
#15
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
#16
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
#17
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
#18
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
#19
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 toward the development of novel therapeutic strategies and are summarized...
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
#20
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
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