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survival of motor neuron

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https://www.readbyqxmd.com/read/29451026/the-tim-system-developing-a-novel-telehealth-service-to-improve-access-to-specialist-care-in-motor-neurone-disease-using-user-centered-design
#1
Esther V Hobson, Wendy O Baird, Rebecca Partridge, Cindy L Cooper, Susan Mawson, Ann Quinn, Pamela J Shaw, Theresa Walsh, Daniel Wolstenholme, Christopher J Mcdermott
OBJECTIVES: Attendance at a specialist multidisciplinary motor neurone disease (MND) clinic is associated with improved survival and may also improve quality of life and reduce hospital admissions. However, patients struggle to travel to clinic and may experience difficulties between clinic visits that may not be addressed in a timely manner. We wanted to explore how we could improve access to specialist MND care. METHODS: We adopted an iterative, user-centered co-design approach, collaborating with those with experience of providing and receiving MND care including patients, carers, clinicians, and technology developers...
February 16, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29449528/als-related-human-cortical-and-motor-neurons-survival-is-differentially-affected-by-sema3a
#2
Anastasya Birger, Miri Ottolenghi, Liat Perez, Benjamin Reubinoff, Oded Behar
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by cell death of upper and lower motor neurons (MNs). The cause of MN cell loss is not completely understood but involves both cell autonomous and non-cell autonomous mechanisms. Numerous molecules have been implicated to be involved in the death of MNs. One such candidate is semaphorin 3A (Sema3A). In ALS patients, Sema3A was shown to be significantly upregulated in the motor cortex and downregulated in the spinal cord. In the mouse, Sema3A was shown to be an axon repellent molecule for MNs...
February 15, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29447858/intrathecal-injection-of-scaav9-higf1-prolongs-the-survival-of-als-model-mice-by-inhibiting-the-nf-kb-pathway
#3
HaoJie Hu, HuiQian Lin, WeiSong Duan, Can Cui, ZhongYao Li, YaKun Liu, Wan Wang, Di Wen, Ying Wang, ChunYan Li
Amyotrophic lateral sclerosis (ALS) is a chronic, fatal neurodegenerative disorder characterized by the progressive loss of upper and lower motor neurons. Currently, there is no effective drug for ALS. Recent studies in ALS model mice have shown that insulin-like growth factor-1 (IGF1) may be a promising therapeutic drug. We demonstrate that self-complementary adeno-associated virus serum type 9 encoding the human IGF1 (scAAV9-hIGF1) could significantly postpone the onset and slow down the progression of the disease owning to inhibiting the NF-κB signalling pathway...
February 12, 2018: Neuroscience
https://www.readbyqxmd.com/read/29445532/sleep-disordered-breathing-in-motor-neurone-disease
#4
REVIEW
Rebecca F D'Cruz, Patrick B Murphy, Georgios Kaltsakas
Motor neurone disease (MND) is a neurodegenerative disease defined by axonal loss and gliosis of upper and lower motor neurones in the motor cortex, lower brainstem nuclei and ventral horn of the spinal cord. MND is currently incurable and has a poor prognosis, with death typically occurring 3 to 5 years after disease onset. The disease is characterised by rapidly progressive weakness leading to paralysis, fasciculations, bulbar symptoms (including dysarthria and dysphagia) and respiratory compromise. Respiratory complications arise as a result of weakness of upper airway (pharyngeal and laryngeal) muscles and respiratory muscles (diaphragm, intercostal and accessory muscles) leading to respiratory failure...
January 2018: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29445154/interleukin-4-modulates-microglia-homeostasis-and-attenuates-the-early-slowly-progressive-phase-of-amyotrophic-lateral-sclerosis
#5
Chiara Rossi, Melania Cusimano, Martina Zambito, Annamaria Finardi, Alessia Capotondo, Jose Manuel Garcia-Manteiga, Giancarlo Comi, Roberto Furlan, Gianvito Martino, Luca Muzio
Microglia activation is a commonly pathological hallmark of neurodegenerative diseases, such as amyotrophic lateral sclerosis (ALS), a devastating disorder characterized by a selective motor neurons degeneration. Whether such activation might represent a causal event rather than a secondary epiphenomenon remains elusive. Here, we show that CNS-delivery of IL-4-via a lentiviral-mediated gene therapy strategy-skews microglia to proliferate, inducing these cells to adopt the phenotype of slowly proliferating cells...
February 14, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29443664/nusinersen-versus-sham-control-in-later-onset-spinal-muscular-atrophy
#6
Eugenio Mercuri, Basil T Darras, Claudia A Chiriboga, John W Day, Craig Campbell, Anne M Connolly, Susan T Iannaccone, Janbernd Kirschner, Nancy L Kuntz, Kayoko Saito, Perry B Shieh, Már Tulinius, Elena S Mazzone, Jacqueline Montes, Kathie M Bishop, Qingqing Yang, Richard Foster, Sarah Gheuens, C Frank Bennett, Wildon Farwell, Eugene Schneider, Darryl C De Vivo, Richard S Finkel
BACKGROUND: Nusinersen is an antisense oligonucleotide drug that modulates pre-messenger RNA splicing of the survival motor neuron 2 ( SMN2) gene. It has been developed for the treatment of spinal muscular atrophy (SMA). METHODS: We conducted a multicenter, double-blind, sham-controlled, phase 3 trial of nusinersen in 126 children with SMA who had symptom onset after 6 months of age. The children were randomly assigned, in a 2:1 ratio, to undergo intrathecal administration of nusinersen at a dose of 12 mg (nusinersen group) or a sham procedure (control group) on days 1, 29, 85, and 274...
February 15, 2018: New England Journal of Medicine
https://www.readbyqxmd.com/read/29440993/increasing-agrin-function-antagonizes-muscle-atrophy-and-motor-impairment-in-spinal-muscular-atrophy
#7
Marina Boido, Elena De Amicis, Valeria Valsecchi, Marco Trevisan, Ugo Ala, Markus A Ruegg, Stefan Hettwer, Alessandro Vercelli
Spinal muscular atrophy (SMA) is a pediatric genetic disease, characterized by motor neuron (MN) death, leading to progressive muscle weakness, respiratory failure, and, in the most severe cases, to death. Abnormalities at the neuromuscular junction (NMJ) have been reported in SMA, including neurofilament (NF) accumulation at presynaptic terminals, immature and smaller than normal endplates, reduced transmitter release, and, finally, muscle denervation. Here we have studied the role of agrin in SMAΔ7 mice, the experimental model of SMAII...
2018: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/29434670/advances-in-spinal-muscular-atrophy-therapeutics
#8
REVIEW
Valeria Parente, Stefania Corti
Spinal muscular atrophy (SMA) is a progressive, recessively inherited neuromuscular disease, characterized by the degeneration of lower motor neurons in the spinal cord and brainstem, which leads to weakness and muscle atrophy. SMA currently represents the most common genetic cause of infant death. SMA is caused by the lack of survival motor neuron (SMN) protein due to mutations, which are often deletions, in the SMN1 gene. In the absence of treatments able to modify the disease course, a considerable burden falls on patients and their families...
2018: Therapeutic Advances in Neurological Disorders
https://www.readbyqxmd.com/read/29434186/preconditioning-induced-by-sub-toxic-dose-of-the-neurotoxin-l-bmaa-delays-als-progression-in-mice-and-prevents-na-ca2-exchanger-3-downregulation
#9
Serenella Anzilotti, Paola Brancaccio, Giuseppe Simeone, Valeria Valsecchi, Antonio Vinciguerra, Agnese Secondo, Tiziana Petrozziello, Natascia Guida, Rossana Sirabella, Ornella Cuomo, Pasquale Cepparulo, Andrè Herchuelz, Salvatore Amoroso, Gianfranco Di Renzo, Lucio Annunziato, Giuseppe Pignataro
Preconditioning (PC) is a phenomenon wherein a mild insult induces resistance to a later, severe injury. Although PC has been extensively studied in several neurological disorders, no studies have been performed in amyotrophic lateral sclerosis (ALS). Here we hypothesize that a sub-toxic acute exposure to the cycad neurotoxin beta-methylamino-L-alanine (L-BMAA) is able to delay ALS progression in SOD1 G93A mice and that NCX3, a membrane transporter able to handle the deregulation of ionic homeostasis occurring during ALS, takes part to this neuroprotective effect...
February 12, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29434179/sma-diagnosis-detection-of-smn1-deletion-with-real-time-mcop-pcr-system-using-fresh-blood-dna
#10
Emma Tabe Eko Niba, Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, Hiroyuki Awano, Ichiro Morioka, Kazumoto Iijima, Toshio Saito, Kayoko Saito, Atsuko Takeuchi, Poh San Lai, Yoshihiro Bouike, Hisahide Nishio, Masakazu Shinohara
BACKGROUND: Spinal muscular atrophy (SMA) is one of the most common autosomal recessive disorders. The symptoms are caused by defects of lower motor neurons in the spinal cord. More than 95% of SMA patients are homozygous for survival motor neuron 1 (SMN1) deletion. We previously developed a screening system for SMN1 deletion based on a modified competitive oligonucleotide priming-PCR (mCOP-PCR) technique using dried blood spot (DBS) on filter paper. This system is convenient for mass screening in the large population and/or first-tier diagnostic method of the patients in the remote areas...
December 18, 2017: Kobe Journal of Medical Sciences
https://www.readbyqxmd.com/read/29434172/new-improved-version-of-the-mcop-pcr-screening-system-for-detection-of-spinal-muscular-atrophy-gene-smn1-deletion
#11
Masakazu Shinohara, Mawaddah Ar Rochmah, Kenta Nakanishi, Nur Imma Fatimah Harahap, Emma Tabe Eko Niba, Toshio Saito, Kayoko Saito, Atsuko Takeuchi, Yoshihiro Bouike, Hisahide Nishio
BACKGROUND: Spinal muscular atrophy (SMA) is a frequent autosomal recessive disorder, characterized by lower motor neuron loss in the spinal cord. More than 95% of SMA patients show homozygous survival motor neuron 1 (SMN1) deletion. We previously developed a screening system for SMN1 deletion based on a modified competitive oligonucleotide priming-PCR (mCOP-PCR) technique. However, non-specific amplification products were observed with mCOP-PCR, which might lead to erroneous interpretation of the screening results...
September 7, 2017: Kobe Journal of Medical Sciences
https://www.readbyqxmd.com/read/29433734/foxo-in-neural-cells-and-diseases-of-the-nervous-system
#12
Evan E Santo, Jihye Paik
The evolutionarily conserved FOXO family of transcription factors has emerged as a significant arbiter of neural cell fate and function in mammals. From the neural stem cell (NSC) state through mature neurons under both physiological and pathological conditions, they have been found to modulate neural cell survival, stress responses, lineage commitment, and neuronal signaling. Lineage-specific FOXO knockout mice have provided an invaluable tool for the dissection of FOXO biology in the nervous system. Within the NSC compartments of the brain, FOXOs are required for the maintenance of NSC quiescence and for the clearance of reactive oxygen species...
2018: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/29422644/advances-in-therapy-for-spinal-muscular-atrophy-promises-and-challenges
#13
REVIEW
Ewout J N Groen, Kevin Talbot, Thomas H Gillingwater
Spinal muscular atrophy (SMA) is a devastating motor neuron disease that predominantly affects children and represents the most common cause of hereditary infant mortality. The condition results from deleterious variants in SMN1, which lead to depletion of the survival motor neuron protein (SMN). Now, 20 years after the discovery of this genetic defect, a major milestone in SMA and motor neuron disease research has been reached with the approval of the first disease-modifying therapy for SMA by US and European authorities - the antisense oligonucleotide nusinersen...
February 9, 2018: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/29421436/dopamine-noradrenaline-and-serotonin-receptor-densities-in-the-striatum-of-hemiparkinsonian-rats-following-botulinum-neurotoxin-a-injection
#14
T Mann, K Zilles, H Dikow, A Hellfritsch, M Cremer, M Piel, F Rösch, A Hawlitschka, O Schmitt, A Wree
Parkinson's disease (PD) is characterized by a degeneration of dopaminergic neurons in the substantia nigra pars compacta (SNpc) that causes a dopamine (DA) deficit in the caudate-putamen (CPu) accompanied by compensatory changes in other neurotransmitter systems. These changes result in severe motor and non-motor symptoms. To disclose the role of various receptor binding sites for DA, noradrenaline, and serotonin in the hemiparkinsonian (hemi-PD) rat model induced by unilateral 6-hydroxydopamine (6-OHDA) injection, the densities of D1, D2/D3, α 1, α 2, and 5HT2A receptors were longitudinally visualized and measured in the CPu of hemi-PD rats by quantitative in vitro receptor autoradiography...
February 5, 2018: Neuroscience
https://www.readbyqxmd.com/read/29415556/patterns-of-use-survival-and-prognostic-factors-in-patients-receiving-home-mechanical-ventilation-in-western-australia-a-single-centre-historical-cohort-study
#15
Geak Poh Tan, Nigel McArdle, Satvinder Singh Dhaliwal, Jane Douglas, Clare Siobhan Rea, Bhajan Singh
Home mechanical ventilation (HMV) is used in a wide range of disorders associated with chronic hypoventilation. We describe the patterns of use, survival and predictors of death in Western Australia. We identified 240 consecutive patients (60% male; mean age 58 years and body mass index 31 kg m-2) referred for HMV between 2005 and 2010. The patients were grouped into four categories: motor neurone disorders (MND; 39%), pulmonary disease (PULM; 25%, mainly chronic obstructive pulmonary disease), non-MND neuromuscular and chest wall disorders (NMCW; 21%) and the obesity hypoventilation syndrome (OHS; 15%)...
January 1, 2018: Chronic Respiratory Disease
https://www.readbyqxmd.com/read/29415125/elongator-subunit-3-elp3-modifies-als-through-trna-modification
#16
Andre Bento-Abreu, Gunilla Jager, Bart Swinnen, Laura Rué, Stijn Hendrickx, Ashley Jones, Kim A Staats, Ines Taes, Caroline Eykens, Annelies Nonneman, Rik Nuyts, Mieke Timmers, Lara Silva, Alain Chariot, Laurent Nguyen, John Ravits, Robin Lemmens, Deirdre Cabooter, Van Den Bosch Ludo, Philip Van Damme, Ammar Al-Chalabi, Anders Bystrom, Wim Robberecht
Amyotrophic Lateral Sclerosis (ALS) is a fatal degenerative motor neuron disorder of which the progression is influenced by several disease-modifying factors. Here, we investigated ELP3, a subunit of the elongator complex that modifies tRNA wobble uridines, as one of such ALS disease modifiers. ELP3 attenuated the axonopathy of a mutant SOD1, as well as of a mutant C9orf72 ALS zebrafish model. Furthermore, expression of ELP3 in the SOD1G93A mouse extended the survival and attenuated the denervation in this model...
February 3, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29413901/mir-137-3p-rescue-motoneuron-death-by-targeting-calpain-2
#17
Ying Tang, Rao Fu, Ze-Min Ling, Lin-Lin Liu, Guang-Yin Yu, Wen Li, Xin-Yu Fang, Zhe Zhu, Wu-Tian Wu, Li-Hua Zhou
Brachial plexus root avulsion (BPRA) is a type of injury that leads to motor function loss as a result of motoneurons (MNs) degeneration. Here we identified that the reduced expression of rat miR-137-3p in the ventral horn of spinal cord was associated with MNs death. However, the pathophysiological role of miR-137-3p in root avulsion remains poorly understood. We demonstrated that the calcium-activated neutral protease-2 (calpain-2) was a direct target gene of miR-137-3p with miR-137-3p binding to the 3'-untranslated region of calpain-2...
January 26, 2018: Nitric Oxide: Biology and Chemistry
https://www.readbyqxmd.com/read/29408391/single-injection-ex-ovo-transplantation-method-for-broad-spinal-cord-engraftment-of-human-pluripotent-stem-cell-derived-motor-neurons
#18
Maria C Estevez-Silva, Akshitha Sreeram, Stephanie Cuskey, Nikolai Fedorchak, Nisha Iyer, Randolph S Ashton
BACKGROUND: Transplantation of human pluripotent stem cell (hPSC)-derived neurons into chick embryos is an established preliminary assay to evaluate engraftment potential. Yet, with recent advances in deriving diverse human neuronal subtypes, optimizing and standardizing such transplantation methodology for specific subtypes at their correlated anatomical sites is still required. NEW METHOD: We determined the optimal stage of hPSC-derived motor neuron (hMN) differentiation for ex ovo transplantation, and developed a single injection protocol that implants hMNs throughout the spinal cord enabling broad regional engraftment possibilities...
February 3, 2018: Journal of Neuroscience Methods
https://www.readbyqxmd.com/read/29405035/protective-effects-of-long-term-lithium-administration-in-a-slowly-progressive-sma-mouse-model
#19
Francesca Biagioni, Michela Ferrucci, Larisa Ryskalin, Federica Fulceri, Gloria Lazzeri, Maria Teresa Calierno, Carla L Busceti, Riccardo Ruffoli, Francesco Fornai
In the present study we evaluated the long-term effects of lithium administration to a knock-out double transgenic mouse model (Smn-/-; SMN1A2G+/-; SMN2+/+) of Spinal Muscle Atrophy type III (SMA-III). This model is characterized by very low levels of the survival motor neuron protein, slow disease progression and motor neuron loss, which enables to detect disease-modifying effects at delayed time intervals. Lithium administration attenuates the decrease in motor activity and provides full protection from motor neuron loss occurring in SMA-III mice, throughout the disease course...
December 1, 2017: Archives Italiennes de Biologie
https://www.readbyqxmd.com/read/29400714/haploinsufficiency-leads-to-neurodegeneration-in-c9orf72-als-ftd-human-induced-motor-neurons
#20
Yingxiao Shi, Shaoyu Lin, Kim A Staats, Yichen Li, Wen-Hsuan Chang, Shu-Ting Hung, Eric Hendricks, Gabriel R Linares, Yaoming Wang, Esther Y Son, Xinmei Wen, Kassandra Kisler, Brent Wilkinson, Louise Menendez, Tohru Sugawara, Phillip Woolwine, Mickey Huang, Michael J Cowan, Brandon Ge, Nicole Koutsodendris, Kaitlin P Sandor, Jacob Komberg, Vamshidhar R Vangoor, Ketharini Senthilkumar, Valerie Hennes, Carina Seah, Amy R Nelson, Tze-Yuan Cheng, Shih-Jong J Lee, Paul R August, Jason A Chen, Nicholas Wisniewski, Victor Hanson-Smith, T Grant Belgard, Alice Zhang, Marcelo Coba, Chris Grunseich, Michael E Ward, Leonard H van den Berg, R Jeroen Pasterkamp, Davide Trotti, Berislav V Zlokovic, Justin K Ichida
An intronic GGGGCC repeat expansion in C9ORF72 is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), but the pathogenic mechanism of this repeat remains unclear. Using human induced motor neurons (iMNs), we found that repeat-expanded C9ORF72 was haploinsufficient in ALS. We found that C9ORF72 interacted with endosomes and was required for normal vesicle trafficking and lysosomal biogenesis in motor neurons. Repeat expansion reduced C9ORF72 expression, triggering neurodegeneration through two mechanisms: accumulation of glutamate receptors, leading to excitotoxicity, and impaired clearance of neurotoxic dipeptide repeat proteins derived from the repeat expansion...
February 5, 2018: Nature Medicine
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