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https://www.readbyqxmd.com/read/29332010/oligogenic-genetic-variation-of-neurodegenerative-disease-genes-in-980-postmortem-human-brains
#1
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
https://www.readbyqxmd.com/read/29331501/incorporating-upper-motor-neuron-health-in-als-drug-discovery
#2
REVIEW
Ina Dervishi, P Hande Ozdinler
Amyotrophic lateral sclerosis (ALS) is a complex disease, affecting the motor neuron circuitry. After consecutive failures in clinical trials for the past 20 years, edaravone was recently approved as the second drug for ALS. This generated excitement in the field and revealed the need to improve preclinical assays for continued success. Here, we focus on the importance and relevance of upper motor neuron (UMN) pathology in ALS, and discuss how incorporation of UMN survival in preclinical assays will improve inclusion criteria for clinical trials and expedite the drug discovery effort in ALS and related motor neuron diseases...
January 10, 2018: Drug Discovery Today
https://www.readbyqxmd.com/read/29331073/cerebrospinal-fluid-macrophage-biomarkers-in-amyotrophic-lateral-sclerosis
#3
A G Thompson, E Gray, M-L Thézénas, P D Charles, S Evetts, M T Hu, K Talbot, R Fischer, B M Kessler, M R Turner
Objective The neurodegenerative disease amyotrophic lateral sclerosis (ALS) is a heterogeneous clinical syndrome involving multiple molecular pathways. The development of biomarkers for use in therapeutic trials is a priority. We sought to use a high-throughput proteomic method to identify novel biomarkers in individual cerebrospinal fluid samples. Methods Liquid chromatography-tandem mass spectrometry with label-free quantification was used to identify cerebrospinal fluid proteins using samples from a well-characterised longitudinal cohort comprising patients with ALS (n=43), the upper motor neuron variant primary lateral sclerosis (PLS, n=6), cross-sectional healthy (n=20) and disease controls (Parkinsons's n=20, ALS mimic disorders n=12)...
January 13, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29330136/white-matter-volume-loss-in-amyotrophic-lateral-sclerosis-a-meta-analysis-of-voxel-based-morphometry-studies
#4
REVIEW
Guangxiang Chen, Baiwan Zhou, Hongyan Zhu, Weihong Kuang, Feng Bi, Hua Ai, Zhongwei Gu, Xiaoqi Huang, Su Lui, Qiyong Gong
Structural neuroimaging studies of white matter (WM) volume in amyotrophic lateral sclerosis (ALS) using voxel-based morphometry (VBM) have yielded inconsistent findings. This study aimed to perform a quantitative voxel-based meta-analysis using effect-size signed differential mapping (ES-SDM) to establish a statistical consensus between published studies for WM volume alterations in ALS. The pooled meta-analysis revealed significant WM volume losses in the bilateral supplementary motor areas (SMAs), bilateral precentral gyri (PGs), left middle cerebellar peduncle and right cerebellum in patients with ALS, involving the corticospinal tract (CST), interhemispheric fibers, subcortical arcuate fibers, projection fibers to the striatum and cortico-ponto-cerebellar tract...
January 9, 2018: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/29325606/repeat-expansion-diseases
#5
Henry Paulson
More than 40 diseases, most of which primarily affect the nervous system, are caused by expansions of simple sequence repeats dispersed throughout the human genome. Expanded trinucleotide repeat diseases were discovered first and remain the most frequent. More recently tetra-, penta-, hexa-, and even dodeca-nucleotide repeat expansions have been identified as the cause of human disease, including some of the most common genetic disorders seen by neurologists. Repeat expansion diseases include both causes of myotonic dystrophy (DM1 and DM2), the most common genetic cause of amyotrophic lateral sclerosis/frontotemporal dementia (C9ORF72), Huntington disease, and eight other polyglutamine disorders, including the most common forms of dominantly inherited ataxia, the most common recessive ataxia (Friedreich ataxia), and the most common heritable mental retardation (fragile X syndrome)...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325328/-value-of-split-hand-in-the-differential-diagnosis-of-amyotrophic-lateral-sclerosis-and-cervical-spondylotic-amyotrophy
#6
M Jiang, X Yan, L R Yan, Y B Zhan, H T Hu
Objective: To investigate the value of split hand in the differential diagnosis of amyotrophic lateral sclerosis(ALS) and cervical spondylotic amyotrophy (CSA). Methods: A total of 62 ALS patients, 57 CSA patients and 65 normal controls who visited the Neurology and Spine Department of Beijing Jishuitan Hospital from May 2013 to June 2017 were enrolled into this study.The amplitudes of compound muscle action potentials (CMAP) were recorded from abductor digiti minimi (ADM) and abductor pollicis brevis (APB)...
December 19, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/29324589/percutaneous-endoscopic-gastrostomy-with-and-without-jejunal-extension-in-patients-with-amyotrophic-lateral-sclerosis
#7
Martha M Kirstein, Sonja Körner, Andrea Schneider, Michael P Manns, Susanne Petri, Torsten Voigtländer
BACKGROUND AND AIMS: Amyotrophic lateral sclerosis (ALS) is a fatal degenerative disease of the motor nervous system, which is associated with severe loss of weight. Enteral nutrition through percutaneous endoscopic gastrostomy (PEG) or percutaneous endoscopic gastrostomy with jejunal extension (PEG-J) is generally recommended upon disease progression. There is no standard endoscopic method that should preferentially be performed. The aim of this study was to compare the number of adverse events, complication-free survival (CFS), and overall survival (OS) in patients who received PEG or PEG-J...
January 10, 2018: European Journal of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/29324454/using-the-capture-recapture-method-to-estimate-the-incidence-of-amyotrophic-lateral-sclerosis-in-beijing-china
#8
Shenghan Zhou, Silin Qian, Xiaohan Li, Liping Zheng, Wenbing Chang, Liping Wang
BACKGROUND: To assess the total, gender-related and ageing process-related incidence rates of amyotrophic lateral sclerosis (ALS) in Beijing, China. Determine whether the decreased male to female ratio among postmenopausal age groups. METHODS: We used the 2-source capture-recapture method to estimate the incidence of ALS in Beijing. The primary and secondary data sources were from diagnostic hospitals and assisted care institutions in the same area from 2010 to 2015...
January 11, 2018: Neuroepidemiology
https://www.readbyqxmd.com/read/29323772/the-role-of-nrf2-signaling-in-counteracting-neurodegenerative-diseases
#9
REVIEW
Albena T Dinkova-Kostova, Rumen V Kostov, Aleksey G Kazantsev
The transcription factor Nrf2 (nuclear factor erythroid 2 p45-related factor 2) functions at the interface of cellular redox and intermediary metabolism. Nrf2 target genes encode antioxidant enzymes, and proteins involved in xenobiotic detoxification, repair and removal of damaged proteins and organelles, inflammation, and mitochondrial bioenergetics. The function of Nrf2 is altered in many neurodegenerative disorders, such as Huntington's disease, Alzheimer's disease, amyotrophic lateral sclerosis and Friedreich's ataxia...
January 11, 2018: FEBS Journal
https://www.readbyqxmd.com/read/29323501/the-pivotal-role-of-copper-in-neurodegeneration-a-new-strategy-for-the-therapy-of-neurodegenerative-disorders
#10
Roberta Giampietro, Francesco Spinelli, Marialessandra Contino, Nicola Antonio Colabufo
Copper is an essential trace element for human body since it is a cofactor of several enzymes and proteins and plays a pivotal role in several biological functions (e.g., respiration, protection from oxidative damage, iron metabolism, etc.), also including the central nervous system development and functioning (e.g. synthesis of neurotransmitters, myelination, activation of neuropeptides, etc.). Therefore, copper dysmetabolism is associated with different toxic effects, mainly represented by oxidative stress, and it has been reported in many neurodegenerative disorders, such as Wilson's disease, Menkes disease, Alzheimer's disease, Parkinson's disease, and Amyotrophic Lateral Sclerosis...
January 11, 2018: Molecular Pharmaceutics
https://www.readbyqxmd.com/read/29323119/cug-initiation-and-frameshifting-enable-production-of-dipeptide-repeat-proteins-from-als-ftd-c9orf72-transcripts
#11
Ricardos Tabet, Laure Schaeffer, Fernande Freyermuth, Melanie Jambeau, Michael Workman, Chao-Zong Lee, Chun-Chia Lin, Jie Jiang, Karen Jansen-West, Hussein Abou-Hamdan, Laurent Désaubry, Tania Gendron, Leonard Petrucelli, Franck Martin, Clotilde Lagier-Tourenne
Expansion of G4C2 repeats in the C9ORF72 gene is the most prevalent inherited form of amyotrophic lateral sclerosis and frontotemporal dementia. Expanded transcripts undergo repeat-associated non-AUG (RAN) translation producing dipeptide repeat proteins from all reading frames. We determined cis-factors and trans-factors influencing translation of the human C9ORF72 transcripts. G4C2 translation operates through a 5'-3' cap-dependent scanning mechanism, requiring a CUG codon located upstream of the repeats and an initiator Met-tRNAMeti...
January 11, 2018: Nature Communications
https://www.readbyqxmd.com/read/29322304/causative-genes-in-amyotrophic-lateral-sclerosis-and-protein-degradation-pathways-a-link-to-neurodegeneration
#12
REVIEW
C Maurel, A Dangoumau, S Marouillat, C Brulard, A Chami, R Hergesheimer, P Corcia, H Blasco, C R Andres, P Vourc'h
Amyotrophic lateral sclerosis (ALS) is a disease caused by the degeneration of motor neurons (MNs) leading to progressive muscle weakness and atrophy. Several molecular pathways have been implicated, such as glutamate-mediated excitotoxicity, defects in cytoskeletal dynamics and axonal transport, disruption of RNA metabolism, and impairments in proteostasis. ALS is associated with protein accumulation in the cytoplasm of cells undergoing neurodegeneration, which is a hallmark of the disease. In this review, we focus on mechanisms of proteostasis, particularly protein degradation, and discuss how they are related to the genetics of ALS...
January 10, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29322259/csf-neurofilament-proteins-as-diagnostic-and-prognostic-biomarkers-for-amyotrophic-lateral-sclerosis
#13
Daniela Rossi, Paolo Volanti, Liliana Brambilla, Tiziana Colletti, Rossella Spataro, Vincenzo La Bella
Elevated cerebrospinal fluid (CSF), Neurofilament Light (NF-L) and phosphorylated Heavy (pNF-H) chain levels have been found in Amyotrophic Lateral Sclerosis (ALS), with studies reporting a correlation of both neurofilaments (NFs) with the disease progression. Here, we measured NF-L and pNF-H concentrations in the CSF of ALS patients from a single tertiary Center and investigated their relationship with disease-related variables. A total of 190 ALS patients (Bulbar, 29.9%; Spinal, 70.1%; M/F = 1.53) and 130 controls with mixed neurological diseases were recruited...
January 10, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29321969/the-two-year-progression-of-structural-and-functional-cerebral-mri-in-amyotrophic-lateral-sclerosis
#14
R A L Menke, M Proudfoot, K Talbot, M R Turner
MRI has emerged as one of several urgently needed candidate disease progression biomarkers for the neurodegenerative disorder amyotrophic lateral sclerosis (ALS), not least due to its unique ability to non-invasively assess structural and functional cerebral pathology. We sought to identify the extent of detectable change in cerebral MRI metrics over a more prolonged period. Analysis of multi-modal MRI data was performed in a cohort of sixteen patients (13 ALS and 3 with primary lateral sclerosis) in whom it was possible to acquire six-monthly images over two years...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29319907/aberrant-accumulation-of-erbb4-in-progressive-supranuclear-palsy
#15
Aya Murakami, Masataka Nakamura, Satoshi Kaneko, Wen-Lang Lin, Dennis W Dickson, Hirofumi Kusaka
The human epidermal growth factor receptor family consists of 4 members that belong to the ErbB lineage of proteins (ErbB1-4). Neuregulin-1 (NRG1)/ErbB signalling regulates brain development and function. Abnormalities in this signalling have been implicated in the aetiology or development of neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis. So, we aimed at investigating whether the expression of NRG1 or ErbB proteins are altered in progressive supranuclear palsy (PSP) METHODS: The brains of 10 PSP and 6 control patients were investigated by immunohistochemical analysis RESULTS: Whereas C-terminal ErbB4 immunoreacitivity was partially but distinctly present in the cytoplasm and/or in the nucleus of neurons in control patients, it was rarely observed in the neuronal nuclei in PSP patients...
January 10, 2018: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29319809/increased-microglial-csf1r-expression-in-the-siv-macaque-model-of-hiv-cns-disease
#16
Audrey C Knight, Samuel A Brill, Suzanne E Queen, Patrick M Tarwater, Joseph L Mankowski
Chronic microglial activation and associated neuroinflammation are key factors in neurodegenerative diseases including HIV-associated neurocognitive disorders. Colony stimulating factor 1 receptor (CSF1R)-mediated signaling is constitutive in cells of the myeloid lineage, including microglia, promoting cell survival, proliferation, and differentiation. In amyotrophic lateral sclerosis and Alzheimers disease, CSF1R is upregulated. Inhibiting CSF1R signaling in animal models of these diseases improved disease outcomes...
January 8, 2018: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/29319397/relationship-between-pain-and-functional-status-in-patients-with-amyotrophic-lateral-sclerosis-a-multicenter-cross-sectional-study
#17
Natsuko Ishida, Shuya Hongo, Ayaka Kumano, Hiroyuki Hatta, Nobuyuki Zakoji, Makiko Hirutani, Yoshiaki Yamamoto, Hirohumi Aono, Moe Tuigi, Ryohei Suzuki, Hiroshi Hanamitsu, Eisaku Wakasugi, Masaaki Takahashi, Akimasa Yamatani
BACKGROUND: Pain is a widely neglected symptom in patients with amyotrophic lateral sclerosis (ALS), even though it may be common and have a significant impact on the quality of life. OBJECTIVE: The aim of this study was to determine the frequency and characteristics of pain and its treatment in ALS patients. DESIGN: A multicenter cross-sectional study. SETTING/SUBJECTS: Eighty patients with ALS from eight hospitals...
January 10, 2018: Journal of Palliative Medicine
https://www.readbyqxmd.com/read/29319015/a-practical-technique-in-laparoscopic-diaphragm-pacing-surgery-retrospective-analyse-of-43-patients
#18
Volkan Karacam, Aydin Sanli, Kemal Can Tertemiz, Ilknur Ulugun
INTRODUCTION: Diaphragm pacing stimulation (DPS) is a treatment method used in respiratory failure occurs in diseases such as high-level cervical spinal cord injury, central hypoventilation syndrome and amyotrophic lateral sclerosis. MATERIALS AND METHODS: A total of 43 patients, who had undergone DPS implantation surgery were evaluated retrospectively. The patients were divided into two groups according to the surgical technique (Group 1: classical surgical technic and Group 2: modified surgical technic) applied...
January 10, 2018: Journal of Minimal Access Surgery
https://www.readbyqxmd.com/read/29318974/-understanding-the-role-of-hypoxia-inducible-factor-during-neurodegeneration-for-new-therapeutics-opportunities
#19
Amalia Merelli, Julio Cesar Garcia Rodriguez, Jaume Folch, Marcelo R Regueiro, Antoni Camins, Lazarowski Alberto
Neurodegeneration (NDG) is linked with the progressive loss of neural function with intellectual and/or motor impairment. Several diseases affecting older individuals, including Alzheimer's disease, Amyotrophic Lateral Sclerosis, Huntington's disease, Parkinson's disease, stroke, Multiple Sclerosis and many others, are the most relevant disorders associated with NDG. Since other pathologies such as refractory epilepsy, brain infections, or hereditary diseases such as "neurodegeneration with brain iron accumulation", also lead to chronic brain inflammation with loss of neural cells, NDG can be said to affect all ages...
January 10, 2018: Current Neuropharmacology
https://www.readbyqxmd.com/read/29317338/astrocytes-as-targets-for-drug-discovery
#20
REVIEW
Kirill Gorshkov, Francis Aguisanda, Natasha Thorne, Wei Zheng
Recent studies have illuminated the crucial role of astrocytes in maintaining proper neuronal health and function. Abnormalities in astrocytic functions have now been implicated in the pathogenesis of neurodegenerative diseases, including Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease (HD), and amyotrophic lateral sclerosis (ALS). Historically, drug development programs for neurodegenerative diseases generally target only neurons, overlooking the contributions of astrocytes. Therefore, targeting both disease neurons and astrocytes offers a new approach for drug development for the treatment of neurological diseases...
January 6, 2018: Drug Discovery Today
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