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lateral amyotrophic sclerosis

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https://www.readbyqxmd.com/read/29352617/high-frequency-of-c9orf72-hexanucleotide-repeat-expansion-in-amyotrophic-lateral-sclerosis-patients-from-two-founder-populations-sharing-the-same-risk-haplotype
#1
Orly Goldstein, Mali Gana-Weisz, Beatrice Nefussy, Batel Vainer, Omri Nayshool, Anat Bar-Shira, Bryan J Traynor, Vivian E Drory, Avi Orr-Urtreger
We characterized the C9orf72 hexanucleotide repeat expansion (RE) mutation in amyotrophic lateral sclerosis (ALS) patients of 2 distinct origins, Ashkenazi and North Africa Jews (AJ, NAJ), its frequency, and genotype-phenotype correlations. In AJ, 80% of familial ALS (fALS) and 11% of sporadic ALS carried the RE, a total of 12.9% of all AJ-ALS compared to 0.3% in AJ controls (odds ratio [OR] = 44.3, p < 0.0001). In NAJ, 10% of fALS and 9% of sporadic ALS carried the RE, a total of 9.1% of all NAJ-ALS compared to 1% in controls (OR = 9...
December 27, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29352425/safety-and-efficacy-of-nanocurcumin-as-add-on-therapy-to-riluzole-in-patients-with-amyotrophic-lateral-sclerosis-a-pilot-randomized-clinical-trial
#2
Mona Ahmadi, Elmira Agah, Shahriar Nafissi, Mahmoud Reza Jaafari, Mohammad Hossein Harirchian, Payam Sarraf, Sara Faghihi-Kashani, Seyed Jalal Hosseini, Abdolreza Ghoreishi, Vajiheh Aghamollaii, Mostafa Hosseini, Abbas Tafakhori
The objective of present study was to assess the safety and efficacy of nanocurcumin as an anti-inflammatory and antioxidant agent in adults with amyotrophic lateral sclerosis (ALS). We conducted a 12-month, double-blind, randomized, placebo-controlled trial at a neurological referral center in Iran. Eligible patients with a definite or probable ALS diagnosis were randomly assigned to receive either nanocurcumin (80 mg daily) or placebo in a 1:1 ratio. A computerized random number generator was used to prepare the randomization list...
January 19, 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/29352102/teenage-onset-progressive-myoclonic-epilepsy-due-to-a-familial-c9orf72-repeat-expansion
#3
Jelle van den Ameele, Ivana Jedlickova, Anna Pristoupilova, Anne Sieben, Sara Van Mossevelde, Chantal Ceuterick-de Groote, Helena Hůlková, Radoslav Matej, Alfred Meurs, Christine Van Broeckhoven, Samuel F Berkovic, Patrick Santens, Stanislav Kmoch, Bart Dermaut
BACKGROUND: The progressive myoclonic epilepsies (PME) are a heterogeneous group of disorders in which a specific diagnosis cannot be made in a subset of patients, despite exhaustive investigation. C9orf72 repeat expansions are emerging as an important causal factor in several adult-onset neurodegenerative disorders, in particular frontotemporal lobar degeneration and amyotrophic lateral sclerosis. An association with PME has not been reported previously. OBJECTIVE: To identify the causative mutation in a Belgian family where the proband had genetically unexplained PME...
January 19, 2018: Neurology
https://www.readbyqxmd.com/read/29351637/prospective-multicenter-assessment-of-all-cause-mortality-following-surgery-for-adult-cervical-deformity
#4
Justin S Smith, Christopher I Shaffrey, Han Jo Kim, Peter Passias, Themistocles Protopsaltis, Renaud Lafage, Gregory M Mundis, Eric Klineberg, Virginie Lafage, Frank J Schwab, Justin K Scheer, Emily Miller, Michael Kelly, D Kojo Hamilton, Munish Gupta, Vedat Deviren, Richard Hostin, Todd Albert, K Daniel Riew, Robert Hart, Doug Burton, Shay Bess, Christopher P Ames
BACKGROUND: Surgical treatments for adult cervical spinal deformity (ACSD) are often complex and have high complication rates. OBJECTIVE: To assess all-cause mortality following ACSD surgery. METHODS: ACSD patients presenting for surgical treatment were identified from a prospectively collected multicenter database. Clinical and surgical parameters and all-cause mortality were assessed. RESULTS: Of 123 ACSD patients, 120 (98%) had complete baseline data (mean age, 60...
January 17, 2018: Neurosurgery
https://www.readbyqxmd.com/read/29350907/excitatory-and-inhibitory-neuronal-circuits-in-the-spinal-cord-and-their-role-in-the-control-of-motor-neuron-function-and-degeneration
#5
Uri Nimrod Ramírez-Jarquín, Ricardo Tapia
The complex neuronal networks of the spinal cord coordinate a wide variety of motor functions, including walking, running and voluntary and involuntary movements. This is accomplished by different groups of neurons, called center pattern generators, which control left-right alternation and flexor-extensor patterns. These spinal circuits, located in the ventral horns, are formed by several neuronal types, and the specific function of most of them has been identified by means of studies in vivo and in the isolated spinal cord of mice harboring genetically induced ablation of specific neuronal populations...
January 19, 2018: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/29350413/occupational-exposure-to-extremely-low-frequency-magnetic-fields-and-the-risk-of-als-a-systematic-review-and-meta-analysis
#6
Anke Huss, Susan Peters, Roel Vermeulen
We performed a meta-analysis to examine associations of occupational exposure to extremely-low frequency magnetic fields (ELF-MF) with amyotrophic lateral sclerosis (ALS). Epidemiologic studies were identified in EMBASE and MEDLINE, in reference lists and a specialist database. We included studies that reported risk estimates of ALS in association with occupational ELF-MF exposure. Summary relative risks (RR) or odds ratios (OR) were obtained with random effect meta-analysis, and analyses were stratified by type of exposure assessment...
January 19, 2018: Bioelectromagnetics
https://www.readbyqxmd.com/read/29349657/association-between-tbk1-mutations-and-risk-of-amyotrophic-lateral-sclerosis-frontotemporal-dementia-spectrum-a-meta-analysis
#7
Rongrong Cui, Miao Tuo, Pengfei Li, Chang Zhou
Recently, mutations in TBK1 (TANK-binding kinase 1) have been reported to be a cause of amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD) spectrum, but the relationship between them remains unclear owing to the small sample size and low mutation rate. Therefore, we performed a two-stage meta-analysis to investigate the frequency of TBK1 mutations in ALS/FTD patients and the association between the mutations and risk of ALS/FTD spectrum. In the first stage, 12 studies involving 4173 ALS/FTD patients were included...
January 18, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/29348425/serum-uric-acid-levels-in-patients-with-amyotrophic-lateral-sclerosis-a-meta-analysis
#8
Fan Zhang, Qin Zhang, Yaqiong Ke, Jianbo Hao, Ling Lu, Nannan Lu, Xiling Chen
The pathogenic mechanism of ALS remains unclear. However, increasing evidence has indicated that uric acid (UA) may play a protective role in the pathogenesis of ALS. The aim of this study was to evaluate the association between serum UA levels and ALS. A comprehensive literature search in PubMed, Embase, Web of Science, and Cochrane Library was conducted up to 31st August, 2017, using keywords. A random-effects model or fixed-effects model was used to calculate the pooled estimate according to the inter-group heterogeneity...
January 18, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29344865/isolation-of-distinct-types-of-neurons-from-fresh-brain-tissue-using-laser-microdissection-in-combination-with-high-performance-liquid-chromatography-mass-spectrometry
#9
Luisa Aring, Simone Steinbach, Katrin Marcus, Caroline May
Humans age and the ageing process affects cells in all areas of the human body, including nerve cells within the brain. With advancing age there is also a rise in the probability of developing a neurodegenerative disorder such as, e.g., amyotrophic lateral sclerosis, Huntington's disease, Parkinson's disease, or Alzheimer's disease. In all these age-related neurodegenerative disorders, distinct neuron populations within specific brain regions are primarily affected. For example, Parkinson's disease is characterized by a slowly progressive degeneration of dopaminergic neurons in the substantia nigra whereas the entorhinal cortex is first affected in Alzheimer's disease...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29344070/diffuse-colour-discrimination-as-marker-of-afferent-visual-system-dysfunction-in-amyotrophic-lateral-sclerosis
#10
Lindsay Boven, Qin Li Jiang, Heather E Moss
Abnormalities of the inner and intermediate retinal structures in patients with amyotrophic lateral sclerosis (ALS) have been described using optical coherence tomography and histopathology. Colour vision is a potential marker of these structural changes. The purpose of this study is to test the hypothesis that colour vision impairment is associated with ALS. Monocular (right eye) colour vision was assessed in subjects with definite or probable ALS (n = 25, aged 50-80 years) and control (n = 21, aged 46-89 years) subjects with corrected near visual acuity of at least 20/40 using the L'Anthony D15 color test (desaturated), scored by c-index, a measure of diffuse colour discrimination...
December 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/29343210/prediction-of-structural-consequences-for-disease-causing-variants-in-c21orf2-protein-using-computational-approaches
#11
Shalini Iyer, K Ravi Acharya, Vasanta Subramanian
Amyotrophic lateral sclerosis (ALS), a progressive motor-neurone disease, affects individuals usually aged between 50 and 70 years. C21orf2, recently identified as the new ALS susceptibility gene, harbours rare missense mutations that cause this fatal disease. We used bioinformatics and molecular modelling approaches to study specific ALS-associated mutations in C21orf2. Both native and mutant structures of the protein obtained from homology modelling were analysed in detail to gain insights into the potential impact of these mutations on the protein structure and its function...
January 17, 2018: Journal of Biomolecular Structure & Dynamics
https://www.readbyqxmd.com/read/29342921/rna-targeted-therapies-and-amyotrophic-lateral-sclerosis
#12
REVIEW
Stéphane Mathis, Gwendal Le Masson
Amyotrophic lateral sclerosis (ALS) is a fatal motor disease in adults. Its pathophysiology remains mysterious, but tremendous advances have been made with the discovery of the most frequent mutations of its more common familial form linked to the C9ORF72 gene. Although most cases are still considered sporadic, these genetic mutations have revealed the role of RNA production, processing and transport in ALS, and may be important players in all ALS forms. There are no disease-modifying treatments for adult human neurodegenerative diseases, including ALS...
January 15, 2018: Biomedicines
https://www.readbyqxmd.com/read/29342275/hot-spot-kif5a-mutations-cause-familial-als
#13
David Brenner, Rüstem Yilmaz, Kathrin Müller, Torsten Grehl, Susanne Petri, Thomas Meyer, Julian Grosskreutz, Patrick Weydt, Wolfgang Ruf, Christoph Neuwirth, Markus Weber, Susana Pinto, Kristl G Claeys, Berthold Schrank, Berit Jordan, Antje Knehr, Kornelia Günther, Annemarie Hübers, Daniel Zeller, Christian Kubisch, Sibylle Jablonka, Michael Sendtner, Thomas Klopstock, Mamede de Carvalho, Anne Sperfeld, Guntram Borck, Alexander E Volk, Johannes Dorst, Joachim Weis, Markus Otto, Joachim Schuster, Kelly Del Tredici, Heiko Braak, Karin M Danzer, Axel Freischmidt, Thomas Meitinger, Tim M Strom, Albert C Ludolph, Peter M Andersen, Jochen H Weishaupt
Heterozygous missense mutations in the N-terminal motor or coiled-coil domains of the kinesin family member 5A (KIF5A) gene cause monogenic spastic paraplegia (HSP10) and Charcot-Marie-Tooth disease type 2 (CMT2). Moreover, heterozygous de novo frame-shift mutations in the C-terminal domain of KIF5A are associated with neonatal intractable myoclonus, a neurodevelopmental syndrome. These findings, together with the observation that many of the disease genes associated with amyotrophic lateral sclerosis disrupt cytoskeletal function and intracellular transport, led us to hypothesize that mutations in KIF5A are also a cause of amyotrophic lateral sclerosis...
January 12, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29340258/atypical-initial-presentation-of-painful-muscle-cramps-in-a-patient-with-amyotrophic-lateral-sclerosis-a-case-report-and-brief-review-of-the-literature
#14
Aaron R Kuzel, Muhammad Uzair Lodhi, Intekhab Askari Syed, Mustafa Rahim
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized clinically by progressive muscle weakness that can occur proximally or distally in either the upper or lower extremities. It includes both upper motor neuron signs (spasticity, hyperreflexia, clonus, and Babinski sign) and lower motor neuron signs (atrophy, weakness, and muscle fasciculation). Initial presentation of progressively painful muscle cramps should lead the physician to screen for other signs of amyotrophic lateral sclerosis...
November 10, 2017: Curēus
https://www.readbyqxmd.com/read/29339958/validation-of-simplified-visual-acuity-testing-protocols-in-amyotrophic-lateral-sclerosis
#15
Lindsay C Boven, Qin Li Jiang, Heather E Moss
High- and low-contrast visual acuity (HCVA, LCVA) are potential quantitative markers of neurological dysfunction in amyotrophic lateral sclerosis (ALS). The complex nature and duration of gold standard (GS) protocols precludes widespread use in neurology settings. This study compares simplified to GS visual acuity (VA) protocols. Monocular HCVA and LCVA were measured in ALS (n = 10) and control (n = 4) subjects using six protocols, varying by two chart and three refraction methods. Intraclass correlation coefficients between simplified and GS protocols ranged from 0...
October 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/29338427/lipid-nanoparticles-for-intranasal-administration-application-to-nose-to-brain-delivery
#16
Luigi Battaglia, Pier Paolo Panciani, Elisabetta Muntoni, Maria Teresa Capucchio, Elena Biasibetti, Pasquale De Bonis, Silvia Mioletti, Marco Fontanella, Shankar Swaminathan
The blood brain barrier is a functional barrier allowing the entry into the brain of only essential nutrients, excluding other molecules. Its structure, although essential to keep the harmful entities out, is also a major roadblock for pharmacological treatment of brain diseases. Several alternative invasive drug delivery approaches, such as transcranial drug delivery and disruption of blood brain barrier have been explored, with limited success and several challenges. Intranasal delivery is a non-invasive methodology, which bypasses the systemic circulation, and, through the intra- and extra- neuronal pathways, provides direct brain drug delivery...
January 17, 2018: Expert Opinion on Drug Delivery
https://www.readbyqxmd.com/read/29337119/sox10-single-transcription-factor-based-fast-and-efficient-generation-of%C3%A2-oligodendrocytes-from-human-pluripotent-stem-cells
#17
Juan Antonio García-León, Manoj Kumar, Ruben Boon, David Chau, Jennifer One, Esther Wolfs, Kristel Eggermont, Pieter Berckmans, Nilhan Gunhanlar, Femke de Vrij, Bas Lendemeijer, Benjamin Pavie, Nikky Corthout, Steven A Kushner, José Carlos Dávila, Ivo Lambrichts, Wei-Shou Hu, Catherine M Verfaillie
Scarce access to primary samples and lack of efficient protocols to generate oligodendrocytes (OLs) from human pluripotent stem cells (hPSCs) are hampering our understanding of OL biology and the development of novel therapies. Here, we demonstrate that overexpression of the transcription factor SOX10 is sufficient to generate surface antigen O4-positive (O4+) and myelin basic protein-positive OLs from hPSCs in only 22 days, including from patients with multiple sclerosis or amyotrophic lateral sclerosis. The SOX10-induced O4+ population resembles primary human OLs at the transcriptome level and can myelinate neurons in vivo...
January 10, 2018: Stem Cell Reports
https://www.readbyqxmd.com/read/29335339/inhibition-of-drp1-fis1-interaction-slows-progression-of-amyotrophic-lateral-sclerosis
#18
Amit U Joshi, Nay L Saw, Hannes Vogel, Anna D Cunnigham, Mehrdad Shamloo, Daria Mochly-Rosen
Bioenergetic failure and oxidative stress are common pathological hallmarks of amyotrophic lateral sclerosis (ALS), but whether these could be targeted effectively for novel therapeutic intervention needs to be determined. One of the reported contributors to ALS pathology is mitochondrial dysfunction associated with excessive mitochondrial fission and fragmentation, which is predominantly mediated by Drp1 hyperactivation. Here, we determined whether inhibition of excessive fission by inhibiting Drp1/Fis1 interaction affects disease progression...
January 15, 2018: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/29334787/analysis-of-endocannabinoid-receptors-and-enzymes-in-the-post-mortem-motor-cortex-and-spinal-cord-of-amyotrophic-lateral-sclerosis-patients
#19
Francisco Espejo-Porras, Javier Fernández-Ruiz, Eva de Lago
OBJECTIVE: We have investigated the endocannabinoid system in the motor cortex of motor neuron disease (MND) patients. METHODS: Post-mortem samples from MND patients and controls were used for immunostaining and/or Western blotting analysis of endocannabinoid elements. RESULTS: We did not find any evidence of neuronal losses in the motor cortex of MND patients, but elevations in glial markers Iba-1 and GFAP were evident. We found no changes in FAAH and MAGL enzymes and in the CB1 receptor, which correlated with the lack of cortical neuron death...
January 15, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29332010/oligogenic-genetic-variation-of-neurodegenerative-disease-genes-in-980-postmortem-human-brains
#20
Michael J Keogh, Wei Wei, Juvid Aryaman, Ian Wilson, Kevin Talbot, Martin R Turner, Chris-Anne McKenzie, Claire Troakes, Johannes Attems, Colin Smith, Safa Al Sarraj, Chris M Morris, Olaf Ansorge, Stuart Pickering-Brown, Nick Jones, James W Ironside, Patrick F Chinnery
BACKGROUND: Several studies suggest that multiple rare genetic variants in genes causing monogenic forms of neurodegenerative disorders interact synergistically to increase disease risk or reduce the age of onset, but these studies have not been validated in large sporadic case series. METHODS: We analysed 980 neuropathologically characterised human brains with Alzheimer's disease (AD), Parkinson's disease-dementia with Lewy bodies (PD-DLB), frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) and age-matched controls...
January 13, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
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