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Amyotrophic lateral sclerosis

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https://www.readbyqxmd.com/read/28645622/in-vivo-effects-of-knocking-down-metabotropic-glutamate-receptor-5-in-the-sod1-g93a-mouse-model-of-amyotrophic-lateral-sclerosis
#1
Tiziana Bonifacino, Luca Cattaneo, Elena Gallia, Aldamaria Puliti, Marcello Melone, Francesca Provenzano, Simone Bossi, Ilaria Musante, Cesare Usai, Fiorenzo Conti, Giambattista Bonanno, Marco Milanese
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder due to loss of upper and lower motor neurons (MNs). The mechanisms of neuronal death are largely unknown, thus prejudicing the successful pharmacological treatment. One major cause for MN degeneration in ALS is represented by glutamate(Glu)-mediated excitotoxicity. We have previously reported that activation of Group I metabotropic Glu receptors (mGluR1 and mGluR5) at glutamatergic spinal cord nerve terminals produces abnormal Glu release in the widely studied SOD1(G93A) mouse model of ALS...
June 20, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28644398/a-novel-wearable-forehead-eog-measurement-system-for-human-computer-interfaces
#2
Jeong Heo, Heenam Yoon, Kwang Suk Park
Amyotrophic lateral sclerosis (ALS) patients whose voluntary muscles are paralyzed commonly communicate with the outside world using eye movement. There have been many efforts to support this method of communication by tracking or detecting eye movement. An electrooculogram (EOG), an electro-physiological signal, is generated by eye movements and can be measured with electrodes placed around the eye. In this study, we proposed a new practical electrode position on the forehead to measure EOG signals, and we developed a wearable forehead EOG measurement system for use in Human Computer/Machine interfaces (HCIs/HMIs)...
June 23, 2017: Sensors
https://www.readbyqxmd.com/read/28644140/a-pathways-based-prediction-model-for-classifying-breast-cancer-subtypes
#3
Tong Wu, Yunfeng Wang, Ronghui Jiang, Xinliang Lu, Jiawei Tian
Breast cancer is highly heterogeneous and is classified into four subtypes characterized by specific biological traits, treatment responses, and clinical prognoses. We performed a systemic analysis of 698 breast cancer patient samples from The Cancer Genome Atlas project database. We identified 136 breast cancer genes differentially expressed among the four subtypes. Based on unsupervised clustering analysis, these 136 core genes efficiently categorized breast cancer patients into the appropriate subtypes. Functional enrichment based on Kyoto Encyclopedia of Genes and Genomes analysis identified six functional pathways regulated by these genes: JAK-STAT signaling, basal cell carcinoma, inflammatory mediator regulation of TRP channels, non-small cell lung cancer, glutamatergic synapse, and amyotrophic lateral sclerosis...
June 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/28642336/the-evolving-genetic-risk-for-sporadic-als
#4
Summer B Gibson, Jonathan M Downie, Spyridoula Tsetsou, Julie E Feusier, Karla P Figueroa, Mark B Bromberg, Lynn B Jorde, Stefan M Pulst
OBJECTIVE: To estimate the genetic risk conferred by known amyotrophic lateral sclerosis (ALS)-associated genes to the pathogenesis of sporadic ALS (SALS) using variant allele frequencies combined with predicted variant pathogenicity. METHODS: Whole exome sequencing and repeat expansion PCR of C9orf72 and ATXN2 were performed on 87 patients of European ancestry with SALS seen at the University of Utah. DNA variants that change the protein coding sequence of 31 ALS-associated genes were annotated to determine which were rare and deleterious as predicted by MetaSVM...
June 22, 2017: Neurology
https://www.readbyqxmd.com/read/28642287/genetic-screening-in-sporadic-als-and-ftd
#5
EDITORIAL
Martin R Turner, Ammar Al-Chalabi, Adriano Chio, Orla Hardiman, Matthew C Kiernan, Jonathan D Rohrer, James Rowe, William Seeley, Kevin Talbot
The increasing complexity of the genetic landscape in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) presents a significant resource and physician training challenge. At least 10% of those diagnosed with ALS or FTD are known to carry an autosomal dominant genetic mutation. There is no consensus on what constitutes a positive family history, and ascertainment is unreliable for many reasons. However, symptomatic individuals often wish to understand as much as possible about the cause of their disease, and to share this knowledge with their family...
June 22, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28641540/metallothionein-is-a-potential-therapeutic-strategy-for-amyotrophic-lateral-sclerosis
#6
Shin-Ichi Ono
Lou Gehrig's disease, a synonym of amyotrophic lateral sclerosis, is an adult-onset lethal neurodegenerative disorder. Irrespective of extensive efforts to elucidate the pathogenesis of the disease and searches for therapies, no favorable pharmacotherapeutic strategies have yet to be proposed. In a popular rodent model of ALS, G93A SOD1 mice, intracellular copper conditions were geared toward copper accumulation inside cells, resulting in an acceleration of oxidative stress and apoptotic process. Disruption of intracellular copper homeostasis was common to transgenic mice expressing human mutant SOD1s...
June 22, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28641533/role-and-therapeutic-potential-of-astrocytes-in-amyotrophic-lateral-sclerosis
#7
Mariana Pehar, Benjamin A Harlan, Kelby M Killoy, Marcelo R Vargas
Amyotrophic lateral sclerosis (ALS) is characterized by the progressive degeneration of motor neurons in the spinal cord, brain stem, and motor cortex. The molecular mechanism underlying the progressive degeneration of motor neuron remains uncertain but involves a non-cell autonomous process. In acute injury or degenerative diseases astrocytes adopt a reactive phenotype known as astrogliosis. Astrogliosis is a complex remodeling of astrocyte biology and most likely represents a continuum of potential phenotypes that affect neuronal function and survival in an injury-specific manner...
June 21, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28641296/-commentary-on-the-article-healing-of-amyotrophic-lateral-sclerosis-a-case-report-by-mangelsdorf-et-al
#8
Johannes Naumann
No abstract text is available yet for this article.
2017: Complementary Medicine Research
https://www.readbyqxmd.com/read/28641283/-healing-of-amyotrophic-lateral-sclerosis-a-case-report
#9
Inge Mangelsdorf, Harald Walach, Joachim Mutter
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a devastating disease leading to death within 3-5 years in most cases. New approaches to treating this disease are needed. Here, we report a successful therapy. CASE REPORT: In a 49-year-old male patient suffering from muscle weakness and fasciculations, progressive muscular atrophy, a variant of ALS, was diagnosed after extensive examinations ruling out other diseases. Due to supposed mercury exposure from residual amalgam, the patient's teeth were restored...
2017: Complementary Medicine Research
https://www.readbyqxmd.com/read/28640860/the-path-to-specialist-multidisciplinary-care-in-amyotrophic-lateral-sclerosis-a-population-based-study-of-consultations-interventions-and-costs
#10
Miriam Galvin, Padhraig Ryan, Sinead Maguire, Mark Heverin, Caoifa Madden, Alice Vajda, Charles Normand, Orla Hardiman
BACKGROUND: Amyotrophic Lateral Sclerosis (ALS) is a devastating neurological condition that requires coordinated, multidisciplinary clinical management. ALS is prone to misdiagnosis as its signs and symptoms may be non-specific, which may prolong patients' journey to multidisciplinary ALS care. METHODS: Using chart review and national register data, we have detailed the journey of a national cohort of ALS patients (n = 155) from the time of first symptom to presentation at a multidisciplinary clinic (MDC)...
2017: PloS One
https://www.readbyqxmd.com/read/28639617/gene-therapy-for-spinomuscular-atrophy-a-biomedical-advance-a-missed-opportunity-for-more-equitable-drug-pricing
#11
T Friedmann
An experimental approach for gene therapy of spinomuscular atrophy has been reported to prevent development of the neuromuscular features of this lethal and previously untreatable disorder. The approach involves treatment of patients suffering from SMN1-associated infantile form of the disease with a splice-switching antisense oligonucleotide (ASO) that corrects aberrant splicing of the nearly identical SMN2 gene to allow the generation of functional SMN protein, thereby mitigating the development of the disease...
June 22, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28639078/a-genome-wide-expression-association-analysis-identifies-genes-and-pathways-associated-with-amyotrophic-lateral-sclerosis
#12
Yanan Du, Yan Wen, Xiong Guo, Jingcan Hao, Wenyu Wang, Awen He, Qianrui Fan, Ping Li, Li Liu, Xiao Liang, Feng Zhang
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with strong genetic components. To identity novel risk variants for ALS, utilizing the latest genome-wide association studies (GWAS) and eQTL study data, we conducted a genome-wide expression association analysis by summary data-based Mendelian randomization (SMR) method. Summary data were derived from a large-scale GWAS of ALS, involving 12577 cases and 23475 controls. The eQTL annotation dataset included 923,021 cis-eQTL for 14,329 genes and 4732 trans-eQTL for 2612 genes...
June 21, 2017: Cellular and Molecular Neurobiology
https://www.readbyqxmd.com/read/28638712/frontal-assessment-battery-and-frontal-atrophy-in-amyotrophic-lateral-sclerosis
#13
Tatsuhiro Terada, Jun Miyata, Tomokazu Obi, Manabu Kubota, Miho Yoshizumi, Kinya Yamazaki, Kouichi Mizoguchi, Toshiya Murai
OBJECTIVES: To determine the potential utility of the frontal assessment battery (FAB) in assessing cognitive impairments in amyotrophic lateral sclerosis (ALS), we investigated the association between the FAB score and regional gray matter volume, and ascertained whether the regional brain alterations related to cognitive impairments occur in relatively mild stage of ALS. MATERIALS AND METHODS: Twenty-four ALS patients with a Mini-Mental State Examination score of >23, a normal score on the Self-Rating Depression Scale, little or no disturbance in speech and handling utensils on the ALS Functional Rating Scale (ALSFRS), and normal measures on respiratory tests (respiratory function test and arterial blood gas analysis), and two age-matched normal control groups (one for FAB assessment and the other for brain morphometry) underwent FAB testing and structural magnetic resonance imaging...
June 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28638596/environmental-insults-critical-triggers-for-amyotrophic-lateral-sclerosis
#14
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/28637276/repetitive-element-transcripts-are-elevated-in-the-brain-of-c9orf72-als-ftld-patients
#15
Mercedes Prudencio, Patrick K Gonzales, Casey N Cook, Tania F Gendron, Lillian M Daughrity, Yuping Song, Mark T W Ebbert, Marka van Blitterswijk, Yong-Jie Zhang, Karen Jansen-West, Matthew C Baker, Michael DeTure, Rosa Rademakers, Kevin B Boylan, Dennis W Dickson, Leonard Petrucelli, Christopher D Link
Significant transcriptome alterations are detected in the brain of patients with amyotrophic lateral sclerosis (ALS), including carriers of the C9orf72 repeat expansion and C9orf72-negative sporadic cases. Recently, the expression of repetitive element transcripts has been associated with toxicity and, while increased repetitive element expression has been observed in several neurodegenerative diseases, little is known about their contribution to ALS. To assess whether aberrant expression of repetitive element sequences are observed in ALS, we analyzed RNA sequencing data from C9orf72-positive and sporadic ALS cases, as well as healthy controls...
June 16, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28634653/assessing-the-combined-toxicity-of-bmaa-and-its-isomers-2-4-dab-and-aeg-in-vitro-using-human-neuroblastoma-cells
#16
Brendan J Main, Kenneth J Rodgers
The non-protein amino acid (NPAA) ß-methylamino-L-alanine (BMAA) is produced by a diverse range of cyanobacteria, diatoms and dinoflagellates, and is present in both aquatic and terrestrial ecosystems globally. Exposure to BMAA has been implicated in the development of neurodegenerative diseases including amyotrophic lateral sclerosis (ALS), Alzheimer's disease (AD) and Parkinson's disease (PD). BMAA is often found in nature along with its structural isomers 2,4-diaminobutyric acid (2,4-DAB) and aminoethylglycine (AEG); however, the toxicity of these NPAAs in combination has not been examined...
June 20, 2017: Neurotoxicity Research
https://www.readbyqxmd.com/read/28634273/the-c-elegans-vapb-homolog-vpr-1-is-a-permissive-signal-for-gonad-development
#17
Pauline A Cottee, Tim Cole, Jessica Schultz, Hieu D Hoang, Jack Vibbert, Sung Min Han, Michael A Miller
VAMP/synaptobrevin-associated proteins (VAPs) contain an N-terminal major sperm protein domain (MSPd) that is associated with amyotrophic lateral sclerosis. VAPs have an intracellular housekeeping function, as well as an extracellular signaling function mediated by the secreted MSPd. Here we show that the C. elegans VAP homolog VPR-1 is essential for gonad development. vpr-1 null mutants are maternal effect sterile due to arrested gonadogenesis following embryo hatching. Somatic gonadal precursor cells and germ cells fail to proliferate fully and complete their respective differentiation programs...
June 15, 2017: Development
https://www.readbyqxmd.com/read/28634272/the-secreted-msp-domain-of-c-elegans-vapb-homolog-vpr-1-patterns-the-adult-striated-muscle-mitochondrial-reticulum-via-smn-1
#18
Jessica Schultz, Se-Jin Lee, Tim Cole, Hieu D Hoang, Jack Vibbert, Pauline A Cottee, Michael A Miller, Sung Min Han
The major sperm protein domain (MSPd) has an extracellular signaling function implicated in amyotrophic lateral sclerosis. Secreted MSPds derived from the C. elegans VAPB homolog VPR-1 promote mitochondrial localization to actin-rich I-bands in body wall muscle. Here we show that the nervous system and germ line are key MSPd secretion tissues. MSPd signals are transduced through the CLR-1 Lar-like tyrosine phosphatase receptor. We show that CLR-1 is expressed throughout the muscle plasma membrane, where it is accessible to MSPd within the pseudocoelomic fluid...
June 15, 2017: Development
https://www.readbyqxmd.com/read/28632899/novel-intracytoplasmic-inclusions-immunoreactive-for-phosphorylated-tdp43-and-cystatin-c-in-anterior-horn-cells-in-a-case-of-sporadic-amyotrophic-lateral-sclerosis
#19
Masayuki Shintaku, Daita Kaneda, Kiyomitsu Oyanagi
Novel intracytoplasmic inclusions immunoreactive for phosphorylated transactivation response DNA-binding protein 43 (p-TDP43), cystatin C, and transferrin were found in anterior horn cells in a case of sporadic amyotrophic lateral sclerosis (ALS). The patient was a 59-year-old woman, who died of ALS after a clinical course of 8 years. She had been receiving mechanical support for respiration for 6 years and in a "totally locked-in" state for 4 years prior to death. The spinal cord showed severe degeneration involving the anterior and lateral funiculi, whereas the posterior funiculus was preserved...
June 20, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28631959/advance-care-planning-for-patients-with-amyotrophic-lateral-sclerosis
#20
Benjamin H Levi, Zachary Simmons, Courtney Hanna, Allyson Brothers, Erik Lehman, Elana Farace, Megan Bain, Renee Stewart, Michael J Green
PURPOSE: To determine whether an advance care planning (ACP) decision-aid could improve communication about end-of-life treatment wishes between patients with amyotrophic lateral sclerosis (ALS) and their clinicians. METHODS: Forty-four patients with ALS (>21, English-speaking, without dementia) engaged in ACP using an interactive computer based decision-aid. Before participants completed the intervention, and again three months later, their clinicians reviewed three clinical vignettes, and made treatment decisions (n = 18) for patients...
March 5, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
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