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https://www.readbyqxmd.com/read/28712846/reactive-astrocytes-promote-als-like-degeneration-and-intracellular-protein-aggregation-in-human-motor-neurons-by-disrupting-autophagy-through-tgf-%C3%AE-1
#1
Pratibha Tripathi, Natalia Rodriguez-Muela, Joseph R Klim, A Sophie de Boer, Sahil Agrawal, Jackson Sandoe, Claudia S Lopes, Karolyn Sassi Ogliari, Luis A Williams, Matthew Shear, Lee L Rubin, Kevin Eggan, Qiao Zhou
Amyotrophic lateral sclerosis (ALS) is a fatal and rapidly progressing motor neuron disease. Astrocytic factors are known to contribute to motor neuron degeneration and death in ALS. However, the role of astrocyte in promoting motor neuron protein aggregation, a disease hallmark of ALS, remains largely unclear. Here, using culture models of human motor neurons and primary astrocytes of different genotypes (wild-type or SOD1 mutant) and reactive states (non-reactive or reactive), we show that reactive astrocytes, regardless of their genotypes, reduce motor neuron health and lead to moderate neuronal loss...
June 29, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28710492/nek1-kinase-domain-structure-and-its-dynamic-protein-interactome-after-exposure-to-cisplatin
#2
Talita D Melo-Hanchuk, Priscila Ferreira Slepicka, Gabriela Vaz Meirelles, Fernanda Luisa Basei, Diogo Ventura Lovato, Daniela Campos Granato, Bianca Alves Pauletti, Romenia Ramos Domingues, Adriana Franco Paes Leme, Alessandra Luiza Pelegrini, Guido Lenz, Stefan Knapp, Jonathan M Elkins, Jörg Kobarg
NEK family kinases are serine/threonine kinases that have been functionally implicated in the regulation of the disjunction of the centrosome, the assembly of the mitotic spindle, the function of the primary cilium and the DNA damage response. NEK1 shows pleiotropic functions and has been found to be mutated in cancer cells, ciliopathies such as the polycystic kidney disease, as well as in the genetic diseases short-rib thoracic dysplasia, Mohr-syndrome and amyotrophic lateral sclerosis. NEK1 is essential for the ionizing radiation DNA damage response and priming of the ATR kinase and of Rad54 through phosphorylation...
July 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28710326/cortical-influences-drive-amyotrophic-lateral-sclerosis
#3
REVIEW
Andrew Eisen, Heiko Braak, Kelly Del Tredici, Roger Lemon, Albert C Ludolph, Matthew C Kiernan
The early motor manifestations of sporadic amyotrophic lateral sclerosis (ALS), while rarely documented, reflect failure of adaptive complex motor skills. The development of these skills correlates with progressive evolution of a direct corticomotoneuronal system that is unique to primates and markedly enhanced in humans. The failure of this system in ALS may translate into the split hand presentation, gait disturbance, split leg syndrome and bulbar symptomatology related to vocalisation and breathing, and possibly diffuse fasciculation, characteristic of ALS...
July 14, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28705014/mutation-in-the-rrm2-domain-of-tdp-43-in-amyotrophic-lateral-sclerosis-with-rapid-progression-associated-with-ubiquitin-positive-aggregates-in-cultured-motor-neurons
#4
Cindy Maurel, Blandine Madji-Hounoum, Rose-Anne Thepault, Sylviane Marouillat, Céline Brulard, Véronique Danel-Brunaud, Jean-Philippe Camdessanche, Helene Blasco, Philippe Corcia, Christian R Andres, Patrick Vourc'h
Mutations in the TAR-DNA Binding Protein-43 (TDP-43) encoding the TARDBP gene are present in amyotrophic lateral sclerosis (ALS). TDP-43 is the major component of ubiquitin-positive inclusions in motor neurons in ALS patients. We report here a novel heterozygous missense mutation in TARDBP in an ALS patient presenting a rapid form of ALS. This mutation p.N259S is located within the RNA recognition motif 2 (RRM2) in very close proximity with nucleotides in RNA. It is the first time a mutation was reported in this RRM2 domain of TDP-43...
July 13, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28692730/secular-trends-of-amyotrophic-lateral-sclerosis-the-piemonte-and-valle-d-aosta-register
#5
Adriano Chiò, Gabriele Mora, Cristina Moglia, Umberto Manera, Antonio Canosa, Stefania Cammarosano, Antonio Ilardi, Davide Bertuzzo, Enrica Bersano, Paolo Cugnasco, Maurizio Grassano, Fabrizio Pisano, Letizia Mazzini, Andrea Calvo
Importance: This study reports the long-term epidemiologic trends of amyotrophic lateral sclerosis (ALS) based on a prospective register. Objective: To examine the 20-year epidemiologic trends of ALS in the Piemonte and Valle d'Aosta regions of Italy. Design, Setting, and Participants: The Piemonte and Valle d'Aosta Register for ALS (PARALS) is an epidemiologic prospective register that covers 2 Italian regions (population of 4 476 931 inhabitants according to the 2011 census) from January 1, 1995, through December 31, 2014...
July 10, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28687401/pathophysiological-role-of-prostaglandin-e2-induced-up-regulation-of-the-ep2-receptor-in-motor-neuron-like-nsc-34-cells-and-lumbar-motor-neurons-in-als-model-mice
#6
Yasuhiro Kosuge, Hiroko Miyagishi, Yuki Yoneoka, Keiko Yoneda, Hiroshi Namgo, Kumiko Ishige, Yoshihisa Ito
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by selective degeneration of motor neurons. The primary triggers for motor neuronal death are still unknown, but inflammation is considered to be an important factor contributing to the pathophysiology of ALS both clinically and in ALS models. Prostaglandin E2 (PGE2) and its corresponding four E-prostanoid receptors play a pivotal role in the degeneration of motor neurons in human and transgenic models of ALS. It has also been shown that PGE2-EP2 signaling in glial cells (astrocytes or microglia) promotes motor neuronal death in G93A mice...
July 4, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28686708/drosophila-lines-with-mutant-and-wild-type-human-tdp-43-replacing-the-endogenous-gene-reveals-phosphorylation-and-ubiquitination-in-mutant-lines-in-the-absence-of-viability-or-lifespan-defects
#7
Jer-Cherng Chang, David B Morton
Mutations in TDP-43 are associated with proteinaceous inclusions in neurons and are believed to be causative in neurodegenerative diseases such as frontotemporal dementia or amyotrophic lateral sclerosis. Here we describe a Drosophila system where we have engineered the genome to replace the endogenous TDP-43 orthologue with wild type or mutant human TDP-43(hTDP-43). In contrast to other models, these flies express both mutant and wild type hTDP-43 at similar levels to those of the endogenous gene and importantly, no age-related TDP-43 accumulation observed among all the transgenic fly lines...
2017: PloS One
https://www.readbyqxmd.com/read/28661948/continuous-in-home-symptom-and-mobility-measures-for-individuals-with-multiple-sclerosis-a-case-presentation
#8
Pamela Newland, Alyssa Kimutis, Amber Salter, Louise Flick, Florian P Thomas, Marilyn Rantz, Marjorie Skubic
Gait impairment represents one of the most common and disabling symptoms of multiple sclerosis (MS). To identify which temporal or spatial parameters of gait could be used as outcome measures in interventional studies of individuals with MS with different levels of disability, we evaluated characteristics of these parameters in a case study of 3 participants with MS, using 1 case as an exemplar and the other participants as validation. A case study of an exemplar participant was conducted with a 67-year-old woman with secondary progressive MS served as exemplar, with 2 other participants (52 and 55 years old) as validation...
August 2017: Journal of Neuroscience Nursing: Journal of the American Association of Neuroscience Nurses
https://www.readbyqxmd.com/read/28642125/safety-and-efficacy-of-dual-lead-thalamic-deep-brain-stimulation-for-patients-with-treatment-refractory-multiple-sclerosis-tremor-a-single-centre-randomised-single-blind-pilot-trial
#9
Seth F Oliveria, Ramon L Rodriguez, Dawn Bowers, Daniel Kantor, Justin D Hilliard, Erin H Monari, Bonnie M Scott, Michael S Okun, Kelly D Foote
BACKGROUND: Efficacy in previous studies of surgical treatments of refractory multiple sclerosis tremor using lesioning or deep brain stimulation (DBS) has been variable. The aim of this study was to investigate the safety and efficacy of dual-lead thalamic DBS (one targeting the ventralis intermedius-ventralis oralis posterior nucleus border [the VIM lead] and one targeting the ventralis oralis anterior-ventralis oralis posterior border [the VO lead]) for the treatment of multiple sclerosis tremor...
June 19, 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28638596/environmental-insults-critical-triggers-for-amyotrophic-lateral-sclerosis
#10
REVIEW
Bing Yu, Roger Pamphlett
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterised by a rapid loss of lower and upper motor neurons. As a complex disease, the ageing process and complicated gene-environment interactions are involved in the majority of cases. MAIN BODY: Significant advances have been made in unravelling the genetic susceptibility to ALS with massively parallel sequencing technologies, while environmental insults remain a suspected but largely unexplored source of risk...
2017: Translational Neurodegeneration
https://www.readbyqxmd.com/read/28634006/testosterone-differentially-affects-t-cells-and-neurons-in-murine-and-human-models-of-neuroinflammation-and-neurodegeneration
#11
Megan G Massa, Christina David, Stefanie Jörg, Johannes Berg, Barbara Gisevius, Sarah Hirschberg, Ralf A Linker, Ralf Gold, Aiden Haghikia
The high female-to-male sex ratio of multiple sclerosis (MS) prevalence has continuously confounded researchers, especially in light of male patients' accelerated disease course at later stages of MS. Although multiple studies have concentrated on estrogenic mechanisms of disease modulation, fairly little attention has been paid to androgenic effects in a female system, and even fewer studies have attempted to dissociate hormonal effects on the neurodegenerative and neuroinflammatory processes of MS. Herein, we demonstrate the differential effects of hormone treatment on the acute inflammatory and chronic neurodegenerative phases of murine experimental autoimmune encephalomyelitis...
July 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28625609/oxidative-stress-induced-by-cumene-hydroperoxide-produces-synaptic-depression-and-transient-hyperexcitability-in-rat-primary-motor-cortex-neurons
#12
R Pardillo-Diaz, L Carrascal, G Barrionuevo, P Nunez-Abades
Pyramidal neurons of the motor cortex are selectively degenerated in Amyotrophic Lateral Sclerosis (ALS). The mechanisms underlying neuronal death in ALS are not well established. In the absence of useful biomarkers, the early increased neuronal excitability seems to be the unique characteristic of ALS. Lipid peroxidation caused by oxidative stress has been postulated as one of the possible mechanisms involved in degeneration motor cortex pyramidal neurons. This paper examines the effect of lipid peroxidation on layer V pyramidal neurons induced by cumene hydroperoxide (CH) in brain slices from wild type rats...
June 15, 2017: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/28622300/the-als-linked-e102q-mutation-in-sigma-receptor-1-leads-to-er-stress-mediated-defects-in-protein-homeostasis-and-dysregulation-of-rna-binding-proteins
#13
Alice Dreser, Jan Tilmann Vollrath, Antonio Sechi, Sonja Johann, Andreas Roos, Alfred Yamoah, Istvan Katona, Saeed Bohlega, Dominik Wiemuth, Yuemin Tian, Axel Schmidt, Jörg Vervoorts, Marc Dohmen, Cordian Beyer, Jasper Anink, Eleonora Aronica, Dirk Troost, Joachim Weis, Anand Goswami
Amyotrophic lateral sclerosis (ALS) is characterized by the selective degeneration of motor neurons (MNs) and their target muscles. Misfolded proteins which often form intracellular aggregates are a pathological hallmark of ALS. Disruption of the functional interplay between protein degradation (ubiquitin proteasome system and autophagy) and RNA-binding protein homeostasis has recently been suggested as an integrated model that merges several ALS-associated proteins into a common pathophysiological pathway...
June 16, 2017: Cell Death and Differentiation
https://www.readbyqxmd.com/read/28608303/assessment-of-the-factorial-validity-and-reliability-of-the-alsfrs-r-a-revision-of-its-measurement-model
#14
Leonhard A Bakker, Carin D Schröder, Michael A van Es, Paul Westers, Johanna M A Visser-Meily, Leonard H van den Berg
The amyotrophic lateral sclerosis functional rating scale-revised (ALSFRS-R) is a widely used primary outcome measure in amyotrophic lateral sclerosis (ALS) clinical practice and clinical trials. ALSFRS-R items cannot, however, validly be summed to obtain a total score, but constitute domain scores reflecting a profile of disease severity. Currently, there are different measurement models for estimating domain scores. The objective of the present study is, therefore, to derive the measurement model that best fits the data for a valid and uniform estimation of ALSFRS-R domain scores...
July 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28603486/comparison-of-sirtuin-3-levels-in-als-and-huntington-s-disease-differential-effects-in-human-tissue-samples-vs-transgenic-mouse-models
#15
Eva Buck, Hanna Bayer, Katrin S Lindenberg, Johannes Hanselmann, Noemi Pasquarelli, Albert C Ludolph, Patrick Weydt, Anke Witting
Neurodegenerative diseases are characterized by distinct patterns of neuronal loss. In amyotrophic lateral sclerosis (ALS) upper and lower motoneurons degenerate whereas in Huntington's disease (HD) medium spiny neurons in the striatum are preferentially affected. Despite these differences the pathophysiological mechanisms and risk factors are remarkably similar. In addition, non-neuronal features, such as weight loss implicate a dysregulation in energy metabolism. Mammalian sirtuins, especially the mitochondrial NAD+ dependent sirtuin 3 (SIRT3), regulate mitochondrial function and aging processes...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28585542/loss-of-function-chchd10-mutations-in-cytoplasmic-tdp-43-accumulation-and-synaptic-integrity
#16
Jung-A A Woo, Tian Liu, Courtney Trotter, Cenxiao C Fang, Emillio De Narvaez, Patrick LePochat, Drew Maslar, Anusha Bukhari, Xingyu Zhao, Andrew Deonarine, Sandy D Westerheide, David E Kang
Although multiple CHCHD10 mutations are associated with the spectrum of familial and sporadic frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) diseases, neither the normal function of endogenous CHCHD10 nor its role in the pathological milieu (that is, TDP-43 pathology) of FTD/ALS have been investigated. In this study, we made a series of observations utilizing Caenorhabditis elegans models, mammalian cell lines, primary neurons and mouse brains, demonstrating that CHCHD10 normally exerts a protective role in mitochondrial and synaptic integrity as well as in the retention of nuclear TDP-43, whereas FTD/ALS-associated mutations (R15L and S59L) exhibit loss of function phenotypes in C...
June 6, 2017: Nature Communications
https://www.readbyqxmd.com/read/28579383/clinical-and-biological-phenotypes-of-frontotemporal-dementia-perspectives-for-disease-modifying-therapies
#17
S Gazzina, M A Manes, A Padovani, B Borroni
Frontotemporal Dementia (FTD) is a progressive neurodegenerative condition which encompasses a group of clinically, neuropathologically and genetically heterogeneous disorders characterized by selective involvement of the frontal and temporal lobes. FTD is characterized by changes in behaviour and personality, frontal executive deficits and language dysfunction. Different phenotypes have been defined on the basis of presenting clinical symptoms, behavioural variants of FTD (bvFTD) and primary progressive aphasia (PPA), which includes nonfluent/agrammatic variant PPA (avPPA) and semantic variant PPA (svPPA)...
June 1, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/28572001/quantitative-flair-mri-in-amyotrophic-lateral-sclerosis
#18
Jeremy Fabes, Lucy Matthews, Nicola Filippini, Kevin Talbot, Mark Jenkinson, Martin R Turner
RATIONALE AND OBJECTIVES: T2-weighted magnetic resonance imaging (MRI) hyperintensity assessed visually in the corticospinal tract (CST) lacks sensitivity for a diagnosis of amyotrophic lateral sclerosis (ALS). We sought to explore a quantitative approach to fluid-attenuated inversion recovery (FLAIR) MRI intensity across a range of ALS phenotypes. MATERIALS AND METHODS: Thirty-three classical ALS patients, 10 with a flail arm presentation, and six with primary lateral sclerosis underwent MRI at 3 Tesla...
May 29, 2017: Academic Radiology
https://www.readbyqxmd.com/read/28569645/in-vivo-evidence-of-oxidative-stress-in-brains-of-patients-with-progressive-multiple-sclerosis
#19
In-Young Choi, Phil Lee, Peter Adany, Abbey J Hughes, Scott Belliston, Douglas R Denney, Sharon G Lynch
BACKGROUND: The oxidative stress hypothesis links neurodegeneration in the later, progressive stages of multiple sclerosis (MS) to the loss of a major brain antioxidant, glutathione (GSH). OBJECTIVE: We measured GSH concentrations among major MS subtypes and examined the relationships with other indices of disease status including physical disability and magnetic resonance imaging (MRI) measures. METHODS: GSH mapping was performed on the fronto-parietal region of patients with relapsing-remitting multiple sclerosis (RRMS, n = 21), primary progressive multiple sclerosis (PPMS, n = 20), secondary progressive multiple sclerosis (SPMS, n = 20), and controls ( n = 28) using GSH chemical shift imaging...
June 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28566149/clinical-profile-of-motor-neuron-disease-patients-with-lower-urinary-tract-symptoms-and-neurogenic-bladder
#20
Juan Francisco Vázquez-Costa, Salvador Arlandis, David Hervas, Esther Martínez-Cuenca, Fernando Cardona, Jordi Pérez-Tur, Enrique Broseta, Teresa Sevilla
INTRODUCTION: Lower urinary tract symptoms (LUTS) are frequent in motor neuron disease (MND) patients, but clinical factors related to them are unknown. We describe differences in LUTS among MND phenotypes and their relationship with other clinical characteristics, including prognosis. METHODS: For this study, we collected clinical data of a previously published cohort of patients diagnosed with classical amyotrophic lateral sclerosis (cALS), progressive muscular atrophy (PMA) or primary lateral sclerosis (PLS) with and without LUTS...
July 15, 2017: Journal of the Neurological Sciences
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