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https://www.readbyqxmd.com/read/28523551/epigenetic-mechanisms-of-gene-regulation-in-amyotrophic-lateral-sclerosis
#1
Alba Jimenez-Pacheco, Jaime M Franco, Soledad Lopez, Juan Miguel Gomez-Zumaquero, Maria Magdalena Leal-Lasarte, Diana E Caballero-Hernandez, Marta Cejudo-Guillén, David Pozo
Despite being clinically described 150 years ago, the mechanisms underlying amyotrophic lateral sclerosis (ALS) pathogenesis have not yet been fully understood. Studies in both animal models of ALS and human patients reveal a plethora of alterations such as increased glutamate-mediated excitotoxicity, redox stress, increased apoptosis, defective axonal transport, protein-misfolding events, mitochondrial impairment and sustained unregulated immune responses. Regardless of being sporadic or familiar ALS, the final outcome at the cellular level is the death of upper and lower motor neurons, and once diagnosed, ALS is typically lethal within the next 5 years...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28511992/rna-seq-analyses-reveal-that-cervical-spinal-cords-and-anterior-motor-neurons-from-amyotrophic-lateral-sclerosis-subjects-show-reduced-expression-of-mitochondrial-dna-encoded-respiratory-genes-and-rhtfam-may-correct-this-respiratory-deficiency
#2
Amy C Ladd, David G Brohawn, Ravindar R Thomas, Paula M Keeney, Stuart S Berr, Shaharyar M Khan, Francisco R Portell, Meiram Zh Shakenov, Patrick F Antkowiak, Bijoy Kundu, Nicholas Tustison, James P Bennett
Amyotrophic lateral sclerosis (ALS) is a generally fatal neurodegenerative disease of adults that produces weakness and atrophy due to dysfunction and death of upper and lower motor neurons. We used RNA-sequencing (RNA-seq) to analyze expression of all mitochondrial DNA (mtDNA)-encoded respiratory genes in ALS and CTL human cervical spinal cords (hCSC) and isolated motor neurons. We analyzed with RNA-seq mtDNA gene expression in human neural stem cells (hNSC) exposed to recombinant human mitochondrial transcription factor A (rhTFAM), visualized in 3-dimensions clustered gene networks activated by rhTFAM, quantitated their interactions with other genes and determined their gene ontology (GO) families...
May 13, 2017: Brain Research
https://www.readbyqxmd.com/read/28503469/motor-neuron-disease-presenting-with-acute-respiratory-failure-a-case-study
#3
Hyeonjun Oh, Seong Woong Kang, Won Ah Choi, Jang Woo Lee, Miri Suh, Eun Young Kim
Motor neuron diseases (MNDs) refer to a heterogeneous group of progressive neurologic disorders caused by degeneration of motor neurons. The diseases affect either the upper motor neurons, lower motor neurons, or both, and are characterized by weakness, atrophy, fasciculation, spasticity, and respiratory failure. We report a case of a 61-year-old male patient with no past history of cardiovascular or pulmonary disease, who presented with only dyspnea, and no indication of any other symptom such as muscle weakness, atrophy, or bulbar dysfunction...
April 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28503316/recovery-of-supraspinal-control-of-leg-movement-in-a-chronic-complete-flaccid-paraplegic-man-after-continuous-low-frequency-pelvic-nerve-stimulation-and-fes-assisted-training
#4
Marc Possover, Axel Forman
INTRODUCTION: More than 30 years ago, functional electrical stimulation (FES) was developed as an orthotic system to be used for rehabilitation for SCI patients. In the present case report, FES-assisted training was combined with continuous low-frequency stimulation of the pelvic somatic nerves in a SCI patient. CASE PRESENTATION: We report on unexpected findings in a 41-year-old man with chronic complete flaccid paraplegia, since he was 18 years old, who underwent spinal stem cell therapy and a laparoscopic implantation of neuroprosthesis (LION procedure) in the pelvic lumbosacral nerves...
2017: Spinal Cord Series and Cases
https://www.readbyqxmd.com/read/28501214/capillary-electrophoresis-tandem-mass-spectrometry-determination-of-glutamic-acid-and-homocysteine-s-metabolites-potential-biomarkers-of-amyotrophic-lateral-sclerosis
#5
Zuzana Cieslarova, Fernando Silva Lopes, Claudimir Lucio do Lago, Marcondes Cavalcante França, Ana Valéria Colnaghi Simionato
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects both lower and upper motor neurons, leading to muscle atrophy, paralysis, and death caused by respiratory failure or infectious complications. Altered levels of homocysteine, cysteine, methionine, and glutamic acid have been observed in plasma of ALS patients. In this context, a method for determination of these potential biomarkers in plasma by capillary electrophoresis tandem mass spectrometry (CE-MS/MS) is proposed herein. Sample preparation was carefully investigated, since sulfur-containing amino acids may interact with plasma proteins...
August 1, 2017: Talanta
https://www.readbyqxmd.com/read/28500227/neurofilament-markers-for-als-correlate-with-extent-of-upper-and-lower-motor-neuron-disease
#6
Koen Poesen, Maxim De Schaepdryver, Beatrice Stubendorff, Benjamin Gille, Petra Muckova, Sindy Wendler, Tino Prell, Thomas M Ringer, Heidrun Rhode, Olivier Stevens, Kristl G Claeys, Goedele Couwelier, Ann D'Hondt, Nikita Lamaire, Petra Tilkin, Dimphna Van Reijen, Sarah Gourmaud, Nadin Fedtke, Bianka Heiling, Matthias Rumpel, Annekathrin Rödiger, Anne Gunkel, Otto W Witte, Claire Paquet, Rik Vandenberghe, Julian Grosskreutz, Philip Van Damme
OBJECTIVE: To determine the diagnostic performance and prognostic value of phosphorylated neurofilament heavy chain (pNfH) and neurofilament light chain (NfL) in CSF as possible biomarkers for amyotrophic lateral sclerosis (ALS) at the diagnostic phase. METHODS: We measured CSF pNfH and NfL concentrations in 220 patients with ALS, 316 neurologic disease controls (DC), and 50 genuine disease mimics (DM) to determine and assess the accuracy of the diagnostic cutoff value for pNfH and NfL and to correlate with other clinical parameters...
May 12, 2017: Neurology
https://www.readbyqxmd.com/read/28499241/pathophysiology-mechanisms-and-applications-of-mesenchymal-stem-cells-for-the-treatment-of-spinal-cord-injury
#7
REVIEW
Pravin Shende, Muna Subedi
Spinal Cord Injury (SCI) is a serious devastating condition associated to the high chances of morbidity and mortality. It involves a primary and a secondary injury, former cause damages to both lower and upper motor neurones and disrupts sensory, motor and autonomic functions while the latter involves various stages of molecular plus cellular incidents which elaborate the original injury. In the treatment of SCI, stem cells possess a good therapeutic potential. Bone marrow, adipose tissue, placenta, amniotic fluid and umbilical cord are the good sources for mesenchymal stem cells...
May 9, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28498852/ultra-high-field-7tesla-magnetic-resonance-spectroscopy-in-amyotrophic-lateral-sclerosis
#8
Nazem Atassi, Maosheng Xu, Christina Triantafyllou, Boris Keil, Robert Lawson, Paul Cernasov, Elena Ratti, Christopher J Long, Sabrina Paganoni, Alyssa Murphy, Nouha Salibi, Ravi Seethamraju, Bruce Rosen, Eva-Maria Ratai
The main objective of this study was to utilize high field (7T) in vivo proton magnetic resonance imaging to increase the ability to detect metabolite changes in people with ALS, specifically, to quantify levels of glutamine and glutamine separately. The second objective of this study was to correlate metabolic markers with clinical outcomes of disease progression. 13 ALS participants and 12 age-matched healthy controls (HC) underwent 7 Tesla MRI and MRS. Single voxel MR spectra were acquired from the left precentral gyrus using a very short echo time (TE = 5 ms) STEAM sequence...
2017: PloS One
https://www.readbyqxmd.com/read/28489146/acute-muscular-weakness-in-children
#9
Ricardo Pablo Javier Erazo Torricelli
Acute muscle weakness in children is a pediatric emergency. During the diagnostic approach, it is crucial to obtain a detailed case history, including: onset of weakness, history of associated febrile states, ingestion of toxic substances/toxins, immunizations, and family history. Neurological examination must be meticulous as well. In this review, we describe the most common diseases related to acute muscle weakness, grouped into the site of origin (from the upper motor neuron to the motor unit). Early detection of hyperCKemia may lead to a myositis diagnosis, and hypokalemia points to the diagnosis of periodic paralysis...
April 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28469596/molecular-taxonomy-of-sporadic-amyotrophic-lateral-sclerosis-using-disease-associated-genes
#10
Giovanna Morello, Antonio Gianmaria Spampinato, Sebastiano Cavallaro
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by selective loss of upper and lower motor neurons. Despite intensive research, the origin and progression of ALS remain largely unknown, suggesting that the traditional clinical diagnosis and treatment strategies might not be adequate to completely capture the molecular complexity underlying the disease. In our previous work, comprehensive genomic profiling of 41 motor cortex samples enabled to discriminate control from sporadic ALS patients and segregated these latter into two distinct subgroups, each associated with different deregulated genes and pathways...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28463058/generating-facial-expressions-of-disgust-activates-neurons-in-the-thoracic-spinal-cord-a-spinal-fmri-study
#11
Stephen D Smith, Jennifer Kornelsen, Theresa A McIver
Facial expressions of disgust, which involve movement of the levator labii muscles on the nose, allow an organism to restrict the intake of potentially aversive stimuli by constricting the air cavities in the nostrils and reducing the speed of air intake. In the current research, we used fMRI of the thoracic spinal cord to measure neural activity related to (1) the contraction of the intercostal muscles that modulate the velocity of air intake and (2) the sensory feedback associated with this contraction. Thirteen participants completed two spinal fMRI runs in which the thoracic segments of the spinal cord were measured...
May 8, 2017: Social Neuroscience
https://www.readbyqxmd.com/read/28449883/hereditary-spastic-paraplegia-more-than-an-upper-motor-neuron-disease
#12
REVIEW
L Parodi, S Fenu, G Stevanin, A Durr
Hereditary spastic paraplegias (HSPs) are a group of rare inherited neurological diseases characterized by extreme heterogeneity in both their clinical manifestations and genetic backgrounds. Based on symptoms, HSPs can be divided into pure forms, presenting with pyramidal signs leading to lower-limb spasticity, and complex forms, when additional neurological or extraneurological symptoms are detected. The clinical diversity of HSPs partially reflects their underlying genetic backgrounds. To date, 76 loci and 58 corresponding genes [spastic paraplegia genes (SPGs)] have been linked to HSPs...
April 24, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28449881/genetics-of-amyotrophic-lateral-sclerosis
#13
REVIEW
P Corcia, P Couratier, H Blasco, C R Andres, S Beltran, V Meininger, P Vourc'h
Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease characterized by upper and lower motor neuron damage in the bulbar and spinal territories. Although the pathophysiology of ALS is still unknown, the involvement of genetic factors is no longer a subject of debate. Familial ALS (fALS) accounts for 10-20% of cases. Since the identification of the SOD1 gene, more than 20 genes have been described, of which four can explain >50% of familial cases. This review is an update focused on major aspects of the field of ALS genetics concerning both causative and susceptibility factors...
May 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28449880/benign-focal-amyotrophy
#14
REVIEW
P Cintas
Within lower motor neuron diseases, benign focal amyotrophy is a rare syndrome characterized by insidious neurogenic asymmetric atrophy restricted to upper or lower limbs with a good prognosis over time. Described under several terms, the nosology is probably heterogeneous. In juvenile distal upper-limbs forms, specific MRI signs with in particular a compression of the spinal cord by forward displacement of dura, lead to evoke a mechanical process. In other forms, occurring later in the life, affecting proximal part of upper limbs or lower limbs, the physiopathology is still unknown and a focal spinal muscular atrophy is suspected...
April 24, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28444311/expression-of-als-ftd-linked-mutant-ccnf-in-zebrafish-leads-to-increased-cell-death-in-the-spinal-cord-and-an-aberrant-motor-phenotype
#15
Alison L Hogan, Emily K Don, Stephanie L Rayner, Albert Lee, Angela S Laird, Maxinne Watchon, Claire Winnick, Ingrid S Tarr, Marco Morsch, Jennifer A Fifita, Serene Gwee, Isabel Formella, Elinor Hortle, Kristy Yuan, Mark P Molloy, Kelly L Williams, Garth A Nicholson, Roger S Chung, Ian P Blair, Nicholas J Cole
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive, fatal neurodegenerative disease characterised by the death of upper and lower motor neurons. Approximately 10% of cases have a known family history of ALS and disease-linked mutations in multiple genes have been identified. ALS-linked mutations in CCNF were recently reported, however the pathogenic mechanisms associated with these mutations are yet to be established. To investigate possible disease mechanisms, we developed in vitro and in vivo models based on an ALS-linked missense mutation in CCNF...
April 21, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28437540/characterization-of-gene-expression-phenotype-in-amyotrophic-lateral-sclerosis-monocytes
#16
Weihua Zhao, David R Beers, Kristopher G Hooten, Douglas H Sieglaff, Aijun Zhang, Shanker Kalyana-Sundaram, Christopher M Traini, Wendy S Halsey, Ashley M Hughes, Ganesh M Sathe, George P Livi, Guo-Huang Fan, Stanley H Appel
Importance: Amyotrophic lateral sclerosis (ALS) is a common adult-onset neurodegenerative disease characterized by selective loss of upper and lower motor neurons. Patients with ALS have persistent peripheral and central inflammatory responses including abnormally functioning T cells and activated microglia. However, much less is known about the inflammatory gene profile of circulating innate immune monocytes in these patients. Objective: To characterize the transcriptomics of peripheral monocytes in patients with ALS...
April 24, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28431286/age-related-changes-in-corticospinal-excitability-and-intracortical-inhibition-after-upper-extremity-motor-learning-a-systematic-review-and-meta-analysis
#17
Kelly M M Berghuis, John G Semmler, George M Opie, Aylin K Post, Tibor Hortobágyi
It is unclear how old age affects the neuronal mechanisms of motor learning. We reviewed the neuronal mechanisms of how healthy old and young adults acquire motor skills as assessed with transcranial magnetic stimulation. Quantitative meta-analyses of 11 studies, involving ballistic and visuomotor tasks performed by upper extremity muscles in 132 healthy old and 128 young adults, revealed that the motor practice-induced increase in corticospinal excitability (CSE) is task-dependent but not age-dependent, with an increase in CSE in both age groups after visuomotor but not ballistic training...
March 27, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28428745/decreased-levels-of-foldase-and-chaperone-proteins-are-associated-with-an-early-onset-amyotrophic-lateral-sclerosis
#18
Melania Filareti, Silvia Luotti, Laura Pasetto, Mauro Pignataro, Katia Paolella, Paolo Messina, Elisabetta Pupillo, Massimiliano Filosto, Christian Lunetta, Jessica Mandrioli, Giuseppe Fuda, Andrea Calvo, Adriano Chiò, Massimo Corbo, Caterina Bendotti, Ettore Beghi, Valentina Bonetto
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by a progressive upper and lower motor neuron degeneration. One of the peculiar clinical characteristics of ALS is the wide distribution in age of onset, which is probably caused by different combinations of intrinsic and exogenous factors. We investigated whether these modifying factors are converging into common pathogenic pathways leading either to an early or a late disease onset. This would imply the identification of phenotypic biomarkers, that can distinguish the two populations of ALS patients, and of relevant pathways to consider in a therapeutic intervention...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28421535/microrna-metabolism-and-dysregulation-in-amyotrophic-lateral-sclerosis
#19
REVIEW
Paola Rinchetti, Mafalda Rizzuti, Irene Faravelli, Stefania Corti
MicroRNAs (miRNAs) are a subset of endogenous, small, non-coding RNA molecules involved in the post-transcriptional regulation of eukaryotic gene expression. Dysregulation in miRNA-related pathways in the central nervous system (CNS) is associated with severe neuronal injury and cell death, which can lead to the development of neurodegenerative disorders, such as amyotrophic lateral sclerosis (ALS). ALS is a fatal adult onset disease characterized by the selective loss of upper and lower motor neurons. While the pathogenesis of ALS is still largely unknown, familial ALS forms linked to TAR DNA-binding protein 43 (TDP-43) and fused in sarcoma (FUS) gene mutations, as well as sporadic forms, display changes in several steps of RNA metabolism, including miRNA processing...
April 18, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28410251/association-of-need-for-tracheotomy-with-decreasing-mechanical-in-exsufflation-flows-in-amyotrophic-lateral-sclerosis
#20
John R Bach, Neelam Upadhyaya
Although patients with lower motor neuron and myopathic disorders can prolong their lives by depending on continuous noninvasive ventilatory support, most patients with amyotrophic lateral sclerosis (ALS) cannot and must use tracheostomy mechanical ventilation to prolong survival. This case demonstrates that this occurs because amyotrophic lateral sclerosis patients' upper motor neuron reflex laryngeal closure and stridor cause upper airway collapse that renders mechanical insufflation-exsufflation (MIE) ineffective in expulsing airway secretions as well as for permitting continuous noninvasive ventilatory support...
April 13, 2017: American Journal of Physical Medicine & Rehabilitation
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