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SCLEROSIS LATERAL AMYOTROPHIC

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https://read.qxmd.com/read/30772963/ultrasound-guided-botulinum-toxin-injections-into-the-salivary-glands-for-the-treatment-of-drooling
#1
Waseem A Abboud, Sahar Nadel, Sharon Hassin-Baer, Abigail Arad, Alex Dobriyan, Ran Yahalom
BACKGROUND: Drooling is the unintentional loss of saliva from the mouth, usually caused by poor coordination of the swallowing mechanism. It is commonly seen in patients with chronic neurologic disorders, such as Parkinson's disease, amyotrophic lateral sclerosis (ALS), cerebral palsy, and stroke, as well as in patients with cognitive impairment and dementia. OBJECTIVES: To evaluate the efficacy and safety of ultrasound-guided botulinum toxin injections into the parotid and submandibular salivary glands for the treatment of drooling...
February 2019: Israel Medical Association Journal: IMAJ
https://read.qxmd.com/read/30770445/motor-neuron-disease-associated-loss-of-nuclear-tdp-43-is-linked-to-dna-double-strand-break-repair-defects
#2
Joy Mitra, Erika N Guerrero, Pavana M Hegde, Nicole F Liachko, Haibo Wang, Velmarini Vasquez, Junling Gao, Arvind Pandey, J Paul Taylor, Brian C Kraemer, Ping Wu, Istvan Boldogh, Ralph M Garruto, Sankar Mitra, K S Rao, Muralidhar L Hegde
Genome damage and their defective repair have been etiologically linked to degenerating neurons in many subtypes of amyotrophic lateral sclerosis (ALS) patients; however, the specific mechanisms remain enigmatic. The majority of sporadic ALS patients feature abnormalities in the transactivation response DNA-binding protein of 43 kDa (TDP-43), whose nucleo-cytoplasmic mislocalization is characteristically observed in spinal motor neurons. While emerging evidence suggests involvement of other RNA/DNA binding proteins, like FUS in DNA damage response (DDR), the role of TDP-43 in DDR has not been investigated...
February 15, 2019: Proceedings of the National Academy of Sciences of the United States of America
https://read.qxmd.com/read/30770429/the-underacknowledged-ppa-als-a-unique-clinicopathologic-subtype-with-strong-heritability
#3
Rachel H Tan, Boris Guennewig, Carol Dobson-Stone, John B J Kwok, Jillian J Kril, Matthew C Kiernan, John R Hodges, Olivier Piguet, Glenda M Halliday
OBJECTIVE: To assess the incidence, heritability, and neuropathology of primary progressive aphasia (PPA) with amyotrophic lateral sclerosis (ALS) in a large Australian cohort. METHODS: A total of 130 patients with a primary nonfluent variant of PPA (nfvPPA) or semantic variant of PPA (svPPA) were assessed for concomitant ALS and a strong family history of neurodegenerative diseases (Goldman score ≤3). Neuropathologic examination was carried out in 28% (n = 36) of these PPA and PPA-ALS cases that had come to autopsy...
February 15, 2019: Neurology
https://read.qxmd.com/read/30770039/corrigendum-to-driven-to-decay-excitability-and-synaptic-abnormalities-in-amyotrophic-lateral-sclerosis-brain-research-bulletin-140-2018-318-333
#4
Matthew J Fogarty
No abstract text is available yet for this article.
March 2019: Brain Research Bulletin
https://read.qxmd.com/read/30767771/aberrant-deposition-of-stress-granule-resident-proteins-linked-to-c9orf72-associated-tdp-43-proteinopathy
#5
Jeannie Chew, Casey Cook, Tania F Gendron, Karen Jansen-West, Giulia Del Rosso, Lillian M Daughrity, Monica Castanedes-Casey, Aishe Kurti, Jeannette N Stankowski, Matthew D Disney, Jeffrey D Rothstein, Dennis W Dickson, John D Fryer, Yong-Jie Zhang, Leonard Petrucelli
BACKGROUND: A G4 C2 hexanucleotide repeat expansion in the noncoding region of C9orf72 is the major genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis (c9FTD/ALS). Putative disease mechanisms underlying c9FTD/ALS include toxicity from sense G4 C2 and antisense G2 C4 repeat-containing RNA, and from dipeptide repeat (DPR) proteins unconventionally translated from these RNA products. METHODS: Intracerebroventricular injections with adeno-associated virus (AAV) encoding 2 or 149 G4 C2 repeats were performed on postnatal day 0, followed by assessment of behavioral and neuropathological phenotypes...
February 15, 2019: Molecular Neurodegeneration
https://read.qxmd.com/read/30767689/c9orf72-dependent-lysosomal-functions-regulate-epigenetic-control-of-autophagy-and-lipid-metabolism
#6
Yang Liu, Jiou Wang
Cellular adaption to nutrient stress is exquisitely regulated, and its dysregulation could underlie human diseases including neurodegeneration. C9orf72 is linked to the most common forms of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) as well as rare cases of other neurological disorders. Recent studies have implicated C9orf72 functions in the autophagy-lysosome pathway, but the exact roles of C9orf72 remain unclear. We found that C9orf72 is required for the lysosomal targeting and degradation of CARM1, which is an important epigenetic regulator of macroautophagy/autophagy and lipid metabolism...
February 15, 2019: Autophagy
https://read.qxmd.com/read/30765536/heterochromatin-anomalies-and-double-stranded-rna-accumulation-underlie-c9orf72-poly-pr-toxicity
#7
Yong-Jie Zhang, Lin Guo, Patrick K Gonzales, Tania F Gendron, Yanwei Wu, Karen Jansen-West, Aliesha D O'Raw, Sarah R Pickles, Mercedes Prudencio, Yari Carlomagno, Mariam A Gachechiladze, Connor Ludwig, Ruilin Tian, Jeannie Chew, Michael DeTure, Wen-Lang Lin, Jimei Tong, Lillian M Daughrity, Mei Yue, Yuping Song, Jonathan W Andersen, Monica Castanedes-Casey, Aishe Kurti, Abhishek Datta, Giovanna Antognetti, Alexander McCampbell, Rosa Rademakers, Björn Oskarsson, Dennis W Dickson, Martin Kampmann, Michael E Ward, John D Fryer, Christopher D Link, James Shorter, Leonard Petrucelli
How hexanucleotide GGGGCC (G4 C2 ) repeat expansions in C9orf72 cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) is not understood. We developed a mouse model engineered to express poly(PR), a proline-arginine (PR) dipeptide repeat protein synthesized from expanded G4 C2 repeats. The expression of green fluorescent protein-conjugated (PR)50 (a 50-repeat PR protein) throughout the mouse brain yielded progressive brain atrophy, neuron loss, loss of poly(PR)-positive cells, and gliosis, culminating in motor and memory impairments...
February 15, 2019: Science
https://read.qxmd.com/read/30763568/implications-of-microglia-in-amyotrophic-lateral-sclerosis-and-frontotemporal-dementia
#8
REVIEW
Henriette Haukedal, Kristine Freude
Amyotrophic lateral sclerosis (ALS) and Frontotemporal dementia (FTD) are neurodegenerative disorders with clear similarities regarding their clinical, genetic and pathological features. Both are progressive, lethal disorders, with no current curative treatment available. Several genes correlated with ALS and FTD are implicated in the same molecular pathways. Strikingly, many of these genes are not exclusively expressed in neurons, but also in glial cells, suggesting a multicellular pathogenesis. Moreover, chronic inflammation is a common feature observed in ALS and FTD, indicating an essential role of microglia, the resident immune cells of the central nervous system (CNS), in disease development and progression...
February 11, 2019: Journal of Molecular Biology
https://read.qxmd.com/read/30762002/muscle-secretion-of-toxic-factors-regulated-by-mir126-5p-facilitates-motor-neuron-degeneration-in-amyotrophic-lateral-sclerosis
#9
Roy Maimon, Eran Perlson
No abstract text is available yet for this article.
June 2019: Neural Regeneration Research
https://read.qxmd.com/read/30762000/lessons-from-glaucoma-rethinking-the-fluid-brain-barriers-in-common-neurodegenerative-disorders
#10
REVIEW
Francisco Javier Carreras
Glaucoma has been recently characterized as a member of the group of anoikis-related diseases. Anoikis, a form of apoptosis, can be triggered by the unfastening of adherent junctions present in astrocytes. In those areas of the central nervous system in which the soma of the neurons or their axons and dendrites are metabolically dependent on the activity of astrocytes, a derangement of the lactate shuttle caused by a separation between the plasma membranes of neurons and astrocytes would result in metabolic impairment of the neurons themselves...
June 2019: Neural Regeneration Research
https://read.qxmd.com/read/30760645/high-plasma-concentrations-of-organic-pollutants-negatively-impact-survival-in-amyotrophic-lateral-sclerosis
#11
Stephen A Goutman, Jonathan Boss, Adam Patterson, Bhramar Mukherjee, Stuart Batterman, Eva L Feldman
OBJECTIVE: To determine whether persistent organic pollutants (POP) affect amyotrophic lateral sclerosis (ALS) survival. METHODS: ALS participants seen at the University of Michigan (Ann Arbor, MI, USA) provided plasma samples for measurement of POPs. ALS disease and clinical features were collected prospectively from the medical records. Survival models used a composite summary measure of exposure due to multiple POPs (environmental risk score or ERS). RESULTS: 167 participants (40...
February 13, 2019: Journal of Neurology, Neurosurgery, and Psychiatry
https://read.qxmd.com/read/30760643/measuring-network-disruption-in-neurodegenerative-diseases-new-approaches-using-signal-analysis
#12
Roisin McMackin, Muthuraman Muthuraman, Sergiu Groppa, Claudio Babiloni, John-Paul Taylor, Matthew C Kiernan, Bahman Nasseroleslami, Orla Hardiman
Advanced neuroimaging has increased understanding of the pathogenesis and spread of disease, and offered new therapeutic targets. MRI and positron emission tomography have shown that neurodegenerative diseases including Alzheimer's disease (AD), Lewy body dementia (LBD), Parkinson's disease (PD), frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS) and multiple sclerosis (MS) are associated with changes in brain networks. However, the underlying neurophysiological pathways driving pathological processes are poorly defined...
February 13, 2019: Journal of Neurology, Neurosurgery, and Psychiatry
https://read.qxmd.com/read/30760512/charity-financial-support-to-motor-neuron-disease-mnd-patients-in-greater-london-the-impact-of-patients-socioeconomic-status-a-cross-sectional-study
#13
Anna Gkiouleka, Alison Manning, Dianna Smith, Andrea Malaspina, Valentina Gallo
OBJECTIVE: There is an immense socioeconomic burden for both the patients with motor neuron disease (MND) and their families. The aim of this study is to evaluate the extent to which the provision offered by the Motor Neurone Disease Association is distributed among patients with MND living in the ethnically and socially diverse area of Greater London, according to the patients' socioeconomic situation and needs. SETTING: Greater London, where age and sex-adjusted prevalence rates of MND in 2016 were calculated...
February 12, 2019: BMJ Open
https://read.qxmd.com/read/30759234/tdp-43-regulates-site-specific-2-o-methylation-of-u1-and-u2-snrnas-via-controlling-the-cajal-body-localization-of-a-subset-of-c-d-scarnas
#14
Keiichi Izumikawa, Yuko Nobe, Hideaki Ishikawa, Yoshio Yamauchi, Masato Taoka, Ko Sato, Hiroshi Nakayama, Richard J Simpson, Toshiaki Isobe, Nobuhiro Takahashi
TDP-43 regulates cellular levels of Cajal bodies (CBs) that provide platforms for the assembly and RNA modifications of small nuclear ribonucleoproteins (snRNPs) involved in pre-mRNA splicing. Alterations in these snRNPs may be linked to pathogenesis of amyotrophic lateral sclerosis. However, specific roles for TDP-43 in CBs remain unknown. Here, we demonstrate that TDP-43 regulates the CB localization of four UG-rich motif-bearing C/D-box-containing small Cajal body-specific RNAs (C/D scaRNAs; i.e. scaRNA2, 7, 9 and 28) through the direct binding to these scaRNAs...
February 13, 2019: Nucleic Acids Research
https://read.qxmd.com/read/30756215/modulating-p1-adenosine-receptors-in-disease-progression-of-sod1-g93a-mutant-mice
#15
Monica Armida, Alessandra Matteucci, Antonella Pèzzola, Younis Baqi, Christa E Müller, Patrizia Popoli, Rosa Luisa Potenza
Amyotrophic lateral sclerosis (ALS) is a fatal progressing neurodegenerative disease; to date, despite the intense research effort, only two therapeutic options, with very limited effects, are available. The purinergic system has been indicated as a possible new therapeutic target for ALS, but the results are often contradictory and generally confused. The present study was designed to determine whether P1 adenosine receptor ligands affected disease progression in a transgenic model of ALS. SOD1G93A mice were chronically treated, from presymptomatic stage, with a selective adenosine A2A receptor agonist (CGS21680), antagonist (KW6002) or the A1 receptor antagonist DPCPX...
February 12, 2019: Neurochemical Research
https://read.qxmd.com/read/30753256/response-to-letter-to-the-editor-amyotrophic-lateral-sclerosis-and-exposure-to-diesel-exhaust-in-a-danish-cohort
#16
Aisha S Dickerson, Johnni Hansen, Ole Gredal, Marc G Weisskopf
No abstract text is available yet for this article.
February 11, 2019: American Journal of Epidemiology
https://read.qxmd.com/read/30753166/application-of-quercetin-in-neurological-disorders-from-nutrition-to-nanomedicine
#17
Elnaz Amanzadeh, Abolghasem Esmaeili, Soheila Rahgozar, Maryam Nourbakhshnia
Quercetin is a polyphenolic flavonoid, which is frequently found in fruits and vegetables. The antioxidant potential of quercetin has been studied from subcellular compartments, that is, mitochondria to tissue levels in the brain. The neurodegeneration process initiates alongside aging of the neurons. It appears in different parts of the brain as Aβ plaques, neurofibrillary tangles, Lewy bodies, Pick bodies, and others, which leads to Alzheimer's disease, Parkinson's disease, Huntington's disease, amyotrophic lateral sclerosis, and other diseases...
February 12, 2019: Reviews in the Neurosciences
https://read.qxmd.com/read/30747709/overriding-fus-autoregulation-in-mice-triggers-gain-of-toxic-dysfunctions-in-rna-metabolism-and-autophagy-lysosome-axis
#18
Shuo-Chien Ling, Somasish Ghosh Dastidar, Seiya Tokunaga, Wan Yun Ho, Kenneth Lim, Hristelina Ilieva, Philippe A Parone, Sheue-Houy Tyan, Tsemay M Tse, Jer-Cherng Chang, Oleksandr Platoshyn, Ngoc B Bui, Anh Bui, Anne Vetto, Shuying Sun, Melissa McAlonis-Downes, Joo Seok Han, Debbie Swing, Katannya Kapeli, Gene W Yeo, Lino Tessarollo, Martin Marsala, Christopher E Shaw, Greg Tucker-Kellogg, Albert R La Spada, Clotilde Lagier-Tourenne, Sandrine Da Cruz, Don W Cleveland
Mutations in coding and non-coding regions of FUS cause amyotrophic lateral sclerosis (ALS). The latter mutations may exert toxicity by increasing FUS accumulation. We show here that broad expression within the nervous system of wild-type or either of two ALS-linked mutants of human FUS in mice produces progressive motor phenotypes accompanied by characteristic ALS-like pathology. FUS levels are autoregulated by a mechanism in which human FUS downregulates endogenous FUS at mRNA and protein levels. Increasing wild-type human FUS expression achieved by saturating this autoregulatory mechanism produces a rapidly progressive phenotype and dose-dependent lethality...
February 12, 2019: ELife
https://read.qxmd.com/read/30745340/nuclear-rna-foci-from-c9orf72-expansion-mutation-form-paraspeckle-like-bodies
#19
Ana Bajc Česnik, Simona Darovic, Sonja Prpar Mihevc, Maja Štalekar, Mirjana Malnar, Helena Motaln, Youn-Bok Lee, Julija Mazej, Jure Pohleven, Markus Grosch, Miha Modic, Marko Fonovič, Boris Turk, Micha Drukker, Christopher E Shaw, Boris Rogelj
The GGGGCC (G4 C2 ) repeat expansion mutation in C9ORF72 gene is the most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Transcription of the repeat and formation of nuclear RNA foci, which sequester specific RNA-binding proteins is one of the possible pathological mechanisms. Here, we show that (G4 C2 )n repeat RNA predominantly associates with essential paraspeckle proteins SFPQ, NONO, RBM14, FUS and hnRNPH and co-localizes with known paraspeckle-associated RNA hLinc-p21...
February 11, 2019: Journal of Cell Science
https://read.qxmd.com/read/30744529/aerobic-exercise-therapy-in-ambulatory-patients-with-als-a-randomized-controlled-trial
#20
Annerieke C van Groenestijn, Carin D Schröder, Ruben P A van Eijk, Jan H Veldink, Esther T Kruitwagen-van Reenen, Jan T Groothuis, Hepke F Grupstra, Marga Tepper, Reinout O van Vliet, Johanna M A Visser-Meily, Leonard H van den Berg
BACKGROUND: Weakness caused by motor neuron degeneration in amyotrophic lateral sclerosis (ALS) may result in avoidance of physical activity, resulting in deconditioning and reduced health-related quality of life (HRQoL). OBJECTIVE: To study the effectiveness of aerobic exercise therapy (AET) on disease-specific and generic HRQoL in ambulatory patients with ALS. METHODS: We conducted a multicenter, assessor-blinded, randomized controlled trial...
February 2019: Neurorehabilitation and Neural Repair
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