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Amyotrophic lateral sclerosis

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https://www.readbyqxmd.com/read/28214109/a-novel-mutation-in-trem2-gene-causing-nasu-hakola-disease-and-review-of-the-literature
#1
Efthimios Dardiotis, Vasileios Siokas, Eva Pantazi, Maria Dardioti, Dimitrios Rikos, Georgia Xiromerisiou, Aikaterini Markou, Dimitra Papadimitriou, Matthaios Speletas, Georgios M Hadjigeorgiou
Nasu-hakola disease (NHD) is a rare disease characterized by bone cysts and fractures, frontal lobe syndrome, and progressive presenile dementia. NHD may be the prototype of primary microglial disorders of the CNS or, as they have been coined, "microgliopathies". Mutations in TREM2 and TYROBP genes are known to cause NHD. Interestingly, recent evidence-associated rare genetic variants of TREM2 gene with increased risk of Alzheimer's disease, frontotemporal dementia, amyotrophic lateral sclerosis, and Parkinson's disease...
January 20, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28213588/a-differential-autophagy-dependent-response-to-dna-double-strand-brakes-in-bone-marrow-mesenchymal-stem-cells-from-sporadic-als-patients
#2
Shane Wald-Altman, Edward Pichinuk, Or Kakhlon, Miguel Weil
Amyotrophic Lateral Sclerosis (ALS) is an incurable motor neurodegenerative disease caused by a diversity of genetic and environmental factors leading to neuromuscular degeneration and pathophysiological implications in non-neural systems. Our previous work showed abnormal transcriptional expression levels of biomarker genes in non-neuronal cell samples from ALS patients. The same genes proved to be differentially expressed in brain, spinal cord and muscle of the SOD1(G93A) ALS mouse model. These observations support the pathophysiological relevance of the ALS biomarkers discovered in human mesenchymal stem cells (hMSC) isolated from bone marrow samples of ALS patients (ALS-hMSC)...
February 16, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28210983/multi-view-ensemble-classification-of-brain-connectivity-images-for-neurodegeneration-type-discrimination
#3
Michele Fratello, Giuseppina Caiazzo, Francesca Trojsi, Antonio Russo, Gioacchino Tedeschi, Roberto Tagliaferri, Fabrizio Esposito
Brain connectivity analyses using voxels as features are not robust enough for single-patient classification because of the inter-subject anatomical and functional variability. To construct more robust features, voxels can be aggregated into clusters that are maximally coherent across subjects. Moreover, combining multi-modal neuroimaging and multi-view data integration techniques allows generating multiple independent connectivity features for the same patient. Structural and functional connectivity features were extracted from multi-modal MRI images with a clustering technique, and used for the multi-view classification of different phenotypes of neurodegeneration by an ensemble learning method (random forest)...
February 16, 2017: Neuroinformatics
https://www.readbyqxmd.com/read/28210978/future-directions-in-imaging-neurodegeneration
#4
REVIEW
Joseph C Masdeu
Neuroimaging comprises a powerful set of instruments to diagnose various neurodegenerative disorders, clarifies their neurobiology, and monitors their treatment. Magnetic resonance imaging depicts volume changes, as well as abnormalities in functional and structural connectivity. Positron emission tomography (PET) allows for the quantification of regional cerebral metabolism, characteristically altered in Alzheimer's disease, amyotrophic lateral sclerosis, diffuse Lewy-body disease, and the frontotemporal dementias...
January 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28209726/therapeutic-targeting-of-the-pathological-triad-of-extrasynaptic-nmda-receptor-signaling-in-neurodegenerations
#5
REVIEW
Hilmar Bading
Activation of extrasynaptic N-methyl-d-aspartate (NMDA) receptors causes neurodegeneration and cell death. The disease mechanism involves a pathological triad consisting of mitochondrial dysfunction, loss of integrity of neuronal structures and connectivity, and disruption of excitation-transcription coupling caused by CREB (cyclic adenosine monophosphate-responsive element-binding protein) shut-off and nuclear accumulation of class IIa histone deacetylases. Interdependency within the triad fuels an accelerating disease progression that culminates in failure of mitochondrial energy production and cell loss...
February 16, 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28208729/altered-intracellular-milieu-of-adar2-deficient-motor-neurons-in-amyotrophic-lateral-sclerosis
#6
REVIEW
Takenari Yamashita, Megumi Akamatsu, Shin Kwak
Transactive response DNA-binding protein (TDP-43) pathology, and failure of A-to-I conversion (RNA editing) at the glutamine/arginine (Q/R) site of α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) receptor subunit GluA2, are etiology-linked molecular abnormalities that concomitantly occur in the motor neurons of most patients with amyotrophic lateral sclerosis (ALS). Adenosine deaminase acting on RNA 2 (ADAR2) specifically catalyzes GluA2 Q/R site-RNA editing. Furthermore, conditional ADAR2 knockout mice (AR2) exhibit a progressive ALS phenotype with TDP-43 pathology in the motor neurons, which is the most reliable pathological marker of ALS...
February 8, 2017: Genes
https://www.readbyqxmd.com/read/28208059/designer-protein-disaggregases-to-counter-neurodegenerative-disease
#7
REVIEW
James Shorter
Protein misfolding and aggregation unify several devastating neurodegenerative disorders, including Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis. There are no effective therapeutics for these disorders and none that target the reversal of the aberrant protein misfolding and aggregation that cause disease. Here, I showcase important advances to define, engineer, and apply protein disaggregases to mitigate deleterious protein misfolding and counter neurodegeneration. I focus on two exogenous protein disaggregases, Hsp104 from yeast and gene 3 protein from bacteriophages, as well as endogenous human protein disaggregases, including: (a) Hsp110, Hsp70, Hsp40, and small heat-shock proteins; (b) HtrA1; and (c) NMNAT2 and Hsp90...
February 13, 2017: Current Opinion in Genetics & Development
https://www.readbyqxmd.com/read/28205575/cu-ii-atsm-improves-the-neurological-phenotype-and-survival-of-sod1-g93a-mice-and-selectively-increases-enzymatically-active-sod1-in-the-spinal-cord
#8
James B Hilton, Stephen W Mercer, Nastasia K H Lim, Noel G Faux, Gojko Buncic, Joseph S Beckman, Blaine R Roberts, Paul S Donnelly, Anthony R White, Peter J Crouch
Ubiquitous expression of mutant Cu/Zn-superoxide dismutase (SOD1) selectively affects motor neurons in the central nervous system (CNS), causing the adult-onset degenerative disease amyotrophic lateral sclerosis (ALS). The CNS-specific impact of ubiquitous mutant SOD1 expression is recapitulated in transgenic mouse models of the disease. Here we present outcomes for the metallo-complex Cu(II)(atsm) tested for therapeutic efficacy in mice expressing SOD1(G93A) on a mixed genetic background. Oral administration of Cu(II)(atsm) delayed the onset of neurological symptoms, improved locomotive capacity and extended overall survival...
February 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28203530/longitudinal-evaluation-of-cerebral-and-spinal-cord-damage-in-amyotrophic-lateral-sclerosis
#9
Milena de Albuquerque, Lucas Melo T Branco, Thiago Junqueira R Rezende, Helen Maia Tavares de Andrade, Anamarli Nucci, Marcondes Cavalcante França
OBJECTIVE: To evaluate MRI-based parameters as biomarkers of Amyotrophic Lateral Sclerosis (ALS) progression. METHODS: Twenty-seven patients and 27 controls performed two clinical and MRI acquisitions 8 months apart. ALSFRS-R scale was used to quantify disease severity at both time points. Multimodal analyses of MRI included cortical thickness measurements (FreeSurfer software), analysis of white matter integrity using diffusion-tensor imaging (tract-based spatial statistics-TBSS) and measurement of cervical spinal cord cross-sectional area (SpineSeg software)...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28202372/gut-microbiota-implications-in-parkinson-s-disease
#10
REVIEW
Arun Parashar, Malairaman Udayabanu
Gut microbiota (GM) can influence various neurological outcomes, like cognition, learning, and memory. Commensal GM modulates brain development and behavior and has been implicated in several neurological disorders like Alzheimer's disease, multiple sclerosis, amyotrophic lateral sclerosis, anxiety, stress and much more. A recent study has shown that Parkinson's disease patients suffer from GM dysbiosis, but whether it is a cause or an effect is yet to be understood. In this review, we try to connect the dots between GM and PD pathology using direct and indirect evidence...
February 7, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28201634/occupations-and-amyotrophic-lateral-sclerosis-are-jobs-exposed-to-the-general-public-at-higher-risk
#11
F D'Ovidio, A d'Errico, A Calvo, G Costa, A Chiò
No abstract text is available yet for this article.
February 14, 2017: European Journal of Public Health
https://www.readbyqxmd.com/read/28197175/can-cannabinoids-be-a-potential-therapeutic-tool-in-amyotrophic-lateral-sclerosis
#12
REVIEW
Sabrina Giacoppo, Emanuela Mazzon
Amyotrophic lateral sclerosis (ALS) is the most common degenerative disease of the motor neuron system. Over the last years, a growing interest was aimed to discovery new innovative and safer therapeutic approaches in the ALS treatment. In this context, the bioactive compounds of Cannabis sativa have shown antioxidant, anti-inflammatory and neuroprotective effects in preclinical models of central nervous system disease. However, most of the studies proving the ability of cannabinoids in delay disease progression and prolong survival in ALS were performed in animal model, whereas the few clinical trials that investigated cannabinoids-based medicines were focused only on the alleviation of ALS-related symptoms, not on the control of disease progression...
December 2016: Neural Regeneration Research
https://www.readbyqxmd.com/read/28197100/rho-kinase-inhibition-with-fasudil-in-the-sod1-g93a-mouse-model-of-amyotrophic-lateral-sclerosis-symptomatic-treatment-potential-after-disease-onset
#13
René Günther, Alexander Balck, Jan C Koch, Tobias Nientiedt, Michael Sereda, Mathias Bähr, Paul Lingor, Lars Tönges
Despite an improved understanding of the genetic background and the pathomechanisms of amyotrophic lateral sclerosis (ALS) no novel disease-modifying therapies have been successfully implemented in clinical routine. Riluzole still remains the only clinically approved substance in human ALS treatment with limited efficacy. We have previously identified pharmacological rho kinase (ROCK) inhibitors as orally applicable substances in SOD1.G93A transgenic ALS mice (SOD1(G93A)), which are able to extend survival time and improve motor function after presymptomatic treatment...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28196825/marked-widespread-atrophy-of-the-cerebral-cortex-and-brainstem-in-sporadic-amyotrophic-lateral-sclerosis-in-a-totally-locked-in-state
#14
Yoko Warabi, Kentaro Hayashi, Masahiro Nagao, Toshio Shimizu
No abstract text is available yet for this article.
February 14, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28196613/potent-and-selective-epha4-agonists-for-the-treatment-of-als
#15
Bainan Wu, Surya K De, Anna Kulinich, Ahmed F Salem, Jordan Koeppen, Rengang Wang, Elisa Barile, Si Wang, Dongxiang Zhang, Iryna Ethell, Maurizio Pellecchia
Amyotrophic lateral sclerosis (ALS) is a progressive degenerative disease that affects motor neurons. Recent studies identified the receptor tyrosine kinase EphA4 as a disease-modifying gene that is critical for the progression of motor neuron degeneration. We report on the design and characterization of a family of EphA4 targeting agents that bind to its ligand binding domain with nanomolar affinity. The molecules exhibit excellent selectivity and display efficacy in a SOD1 mutant mouse model of ALS. Interestingly, the molecules appear to act as agonists for the receptor in certain surrogate cellular assays...
February 8, 2017: Cell Chemical Biology
https://www.readbyqxmd.com/read/28193757/diagnostic-criteria-in-amyotrophic-lateral-sclerosis-a-multicenter-prospective-study
#16
(no author information available yet)
No abstract text is available yet for this article.
February 14, 2017: Neurology
https://www.readbyqxmd.com/read/28193756/author-response-diagnostic-criteria-in-amyotrophic-lateral-sclerosis-a-multicenter-prospective-study
#17
Nimeshan Geevasinga, Parvathi Menon, Daniel B Scherman, Neil Simon, Con Yiannikas, Robert D Henderson, Matthew C Kiernan, Steve Vucic
No abstract text is available yet for this article.
February 14, 2017: Neurology
https://www.readbyqxmd.com/read/28193755/letter-re-diagnostic-criteria-in-amyotrophic-lateral-sclerosis-a-multicenter-prospective-study
#18
Syed Ali
No abstract text is available yet for this article.
February 14, 2017: Neurology
https://www.readbyqxmd.com/read/28193696/astrocytic-orosomucoid-2-modulates-microglial-activation-and-neuroinflammation
#19
Myungjin Jo, Jong-Heon Kim, Gyunjee Song, Minchul Seo, Eun Mi Hwang, Kyoungho Suk
Orosomucoid (ORM) is an acute-phase protein that belongs to the immunocalin subfamily, a group of small-molecule binding proteins with immunomodulatory functions. Little is known about the role of ORM proteins in the central nervous system. The aim of the present study was to investigate the brain expression of ORM and its role in neuroinflammation. Expression of Orm2, but not Orm1 or Orm3, was highly induced in the mouse brain after systemic injection of lipopolysaccharide (LPS). Plasma levels of ORM2 were also significantly higher in patients with cognitive impairment than in normal subjects...
February 13, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28192553/clinical-evidence-of-disease-anticipation-in-families-segregating-a-c9orf72-repeat-expansion
#20
Sara Van Mossevelde, Julie van der Zee, Ilse Gijselinck, Kristel Sleegers, Jan De Bleecker, Anne Sieben, Rik Vandenberghe, Tim Van Langenhove, Jonathan Baets, Olivier Deryck, Patrick Santens, Adrian Ivanoiu, Christiana Willems, Veerle Bäumer, Marleen Van den Broeck, Karin Peeters, Maria Mattheijssens, Peter De Jonghe, Patrick Cras, Jean-Jacques Martin, Marc Cruts, Peter P De Deyn, Sebastiaan Engelborghs, Christine Van Broeckhoven
Importance: Patients carrying a C9orf72 repeat expansion leading to frontotemporal dementia and/or amyotrophic lateral sclerosis have highly variable ages at onset of disease, suggesting the presence of modifying factors. Objective: To provide clinical-based evidence for disease anticipation in families carrying a C9orf72 repeat expansion by analyzing age at onset, disease duration, and age at death in successive generations. Design, Setting, and Participants: This cohort study was performed from June 16, 2000, to June 1, 2016, in 36 extended Belgian families in which a C9orf72 repeat expansion was segregating...
February 13, 2017: JAMA Neurology
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