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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

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https://www.readbyqxmd.com/read/28166654/open-label-study-to-assess-the-safety-of-vm202-in-subjects-with-amyotrophic-lateral-sclerosis
#1
Robert L Sufit, Senda Ajroud-Driss, Patricia Casey, John A Kessler
OBJECTIVE: To assess safety and define efficacy measures of hepatocyte growth factor (HGF) DNA plasmid, VM202, administered by intramuscular injections in patients with amyotrophic lateral sclerosis (ALS). METHODS: Eighteen participants were treated with VM202 administered in divided doses by injections alternating between the upper and lower limbs on d 0, 7, 14, and 21. Subjects were followed for nine months to evaluate possible adverse events. Functional outcome was assessed using the ALS Functional Rating Scale-Revised (ALSFRS-R) as well as by serially measuring muscle strength, muscle circumference, and forced vital capacity...
February 6, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28165766/longitudinal-assessment-of-the-edinburgh-cognitive-and-behavioural-amyotrophic-lateral-sclerosis-screen-ecas-lack-of-practice-effect-in-als-patients
#2
Christian Burkhardt, Christoph Neuwirth, Markus Weber
OBJECTIVE: The study objective was to assess whether controls and ALS patients show a practice effect in the Edinburgh Cognitive and Behavioural ALS Screen (ECAS) on repeated longitudinal testing and if the ECAS detects progression of cognitive or behavioural changes over time. METHODS: The ECAS was administered serially to ALS patients (n = 24 after six months, n = 10 after 12-18 months) and controls (n = 21 after six months). The ECAS was fully performed by all participants...
February 6, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28152620/incidence-of-amyotrophic-lateral-sclerosis-in-the-province-of-novara-italy-and-possible-role-of-environmental-pollution
#3
Marina Tesauro, Michela Consonni, Tommaso Filippini, Letizia Mazzini, Fabrizio Pisano, Adriano Chiò, Aniello Esposito, Marco Vinceti
OBJECTIVE AND METHODS: Based on nationwide death certificates, a cluster of amyotrophic lateral sclerosis (ALS) has been reported in the area of Briga (Novara province, northern Italy), known for its severe environmental contamination. We further investigated this finding, by following up with the collection of recent incidence ALS data in 2002-2012 of Novara province, also to assess the possible long-term effects of environmental pollution in that area. RESULTS: In the whole Novara province we identified 106 ALS cases, of which 35 were from the Briga area...
February 2, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28140676/further-analysis-of-kifap3-gene-in-als-patients-from-switzerland-and-sweden
#4
David Czell, Peter C Sapp, Christoph Neuwirth, Markus Weber, Peter M Andersen, Robert H Brown
A series of studies suggests that susceptibility to ALS may be influenced by variants in multiple genes. While analyses of the 10% of cases of familial origin have identified more than 33 monogenic ALS-causing genetic defects, little is known about genetic factors that influence susceptibility or phenotype in sporadic ALS (SALS). We and others conducted a genome-wide association study (GWAS) in a cohort of 1014 ALS cases from Western Europe, England and the United States, and identified an intronic single nucleotide polymorphism (SNP) rs1541160 in the KIFAP3 gene that was statistically associated with improved survival...
January 31, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28100064/a-risk-stratifying-tool-to-facilitate-safe-late-stage-percutaneous-endoscopic-gastrostomy-in-als
#5
Alexander G Thompson, Victoria Blackwell, Rachael Marsden, Emma Millard, Clare Lawson, Annabel H Nickol, James E East, Kevin Talbot, Philip J Allan, Martin R Turner
BACKGROUND: The safety of percutaneous endoscopic gastrostomy (PEG) insertion in amyotrophic lateral sclerosis (ALS) patients with significant respiratory compromise has been questioned. OBJECTIVES: To review the characteristics of an ALS clinic patient cohort undergoing PEG, and the introduction of a risk stratification tool with procedural adaptations for higher-risk individuals. METHODS: Patients undergoing PEG insertion were analysed (n = 107)...
January 19, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28084080/visual-encoding-consolidation-and-retrieval-in-amyotrophic-lateral-sclerosis-executive-function-as-a-mediator-and-predictor-of-performance
#6
Tom Burke, Katie Lonergan, Marta Pinto-Grau, Marwa Elamin, Peter Bede, Caoifa Madden, Orla Hardiman, Niall Pender
OBJECTIVE: This study aimed to illustrate the variation of non-executive cognitive processes, i.e. visual memory, considering executive dysfunction in amyotrophic lateral sclerosis (ALS). METHODS: Patients with ALS (n = 203), and matched healthy controls (n = 117) completed a battery of neuropsychological tests. Sub-stratification was based on whether cognitive assessment detected no cognitive abnormalities (NCA: n = 117), multiple executive cognitive deficits (ALS-Exec; n = 56), or a comorbid frontotemporal dementia process (ALS-FTD; n = 30)...
January 13, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28076984/percutaneous-endoscopic-gastrostomy-body-weight-loss-and-survival-in-amyotrophic-lateral-sclerosis-a-population-based-registry-study
#7
Antonio Fasano, Nicola Fini, Diana Ferraro, Laura Ferri, Marco Vinceti, Jessica Mandrioli
OBJECTIVE: To assess the role of percutaneous endoscopic gastrostomy (PEG) insertion, and its timing, on ALS survival, and to study prognostic factors of survival before and after PEG placement in a population-based setting. METHODS: In this observational population-based, registry study, we enrolled patients with newly- diagnosed ALS, according to the El Escorial revised criteria, who were resident in the Emilia Romagna Region, and who developed severe dysphagia needing enteral nutritional support...
January 11, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28054830/a-novel-mutation-of-the-c-terminal-amino-acid-of-fus-y526c-strengthens-fus-gene-as-the-most-frequent-genetic-factor-in-aggressive-juvenile-als
#8
Philippe Corcia, Veronique Danel, Arnaud Lacour, Stephane Beltran, Christian Andres, Philippe Couratier, Helene Blasco, Patrick Vourc'h
Although amyotrophic lateral sclerosis (ALS) typically occurs around 60 years, numerous publications report an onset of ALS before the age of 25 years that define juvenile ALS (jALS). Over the last decade, growing literature mentioned jALS with an aggressive evolution which are mainly linked to the FUS gene. We report here the case of a 25-year-old woman with a bulbar onset ALS that progressed in less than 12 months to invasive ventilation due to respiratory failure; Genetic screening identified a new mutation in the FUS gene that lies within the last codon...
January 5, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28054828/comparison-of-the-king-s-and-mitos-staging-systems-for-als
#9
Ton Fang, Ahmad Al Khleifat, Daniel R Stahl, Claudia Lazo La Torre, Caroline Murphy, Carolyn Young, Pamela J Shaw, P Nigel Leigh, Ammar Al-Chalabi
OBJECTIVE: To investigate and compare two ALS staging systems, King's clinical staging and Milano-Torino (MiToS) functional staging, using data from the LiCALS phase III clinical trial (EudraCT 2008-006891-31). METHODS: Disease stage was derived retrospectively for each system from the ALS Functional Rating Scale-Revised subscores using standard methods. The two staging methods were then compared for timing of stages using box plots, correspondence using chi-square tests, agreement using a linearly weighted kappa coefficient and concordance using Spearman's rank correlation...
January 5, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28054827/amyotrophic-lateral-sclerosis-frontotemporal-spectrum-disorder-als-ftsd-revised-diagnostic-criteria
#10
Michael J Strong, Sharon Abrahams, Laura H Goldstein, Susan Woolley, Paula Mclaughlin, Julie Snowden, Eneida Mioshi, Angie Roberts-South, Michael Benatar, Tibor HortobáGyi, Jeffrey Rosenfeld, Vincenzo Silani, Paul G Ince, Martin R Turner
This article presents the revised consensus criteria for the diagnosis of frontotemporal dysfunction in amyotrophic lateral sclerosis (ALS) based on an international research workshop on frontotemporal dementia (FTD) and ALS held in London, Canada in June 2015. Since the publication of the Strong criteria, there have been considerable advances in the understanding of the neuropsychological profile of patients with ALS. Not only is the breadth and depth of neuropsychological findings broader than previously recognised - - including deficits in social cognition and language - but mixed deficits may also occur...
January 5, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28019106/geographic-distributions-of-motor-neuron-disease-mortality-and-well-water-use-in-u-s-counties
#11
Gary G Schwartz, Bradley C Rundquist, Isaac J Simon, Sami E Swartz
OBJECTIVE: We recently reported that U.S. mortality rates for motor neuron disease (MND) at the level of the state are associated with well water use. However, data at the state level may not accurately reflect data at the individual level. We therefore examined the association between MND mortality and well water use utilizing data from smaller geographic units that may better reflect exposure and disease at the individual level. METHODS: We used data on age-adjusted MND mortality rates at the level of the county, obtained from the CDC, and corresponding data on the prevalence of well water use, obtained from the U...
December 25, 2016: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28010125/proposed-association-between-the-hexanucleotide-repeat-of-c9orf72-and-opposability-index-of-the-thumb
#12
Zhongbo Chen, Kuang Lin, Jeffrey D Macklis, Ammar Al-Chalabi
OBJECTIVE: Amyotrophic lateral sclerosis (ALS) is a fatal disease caused by motor neuron and sub-cerebral projection neuron degeneration. We sought to explore the particular susceptibility of humans to neurodegeneration and whether any characteristic human features might predispose to selective vulnerability of the critical motor circuitry in ALS. The pathophysiology of the C9orf72 repeat is not yet understood, despite its role as a common cause of ALS and frontotemporal dementia. METHODS: We examined the development of the monosynaptic cortico-motoneuronal system, key to skilled hand movements, measured by the thumb opposability index, and its relationship to the C9orf72 hexanucleotide repeat expansion, a strong predisposing factor for neurodegeneration, using the genomic tool BLAST...
December 23, 2016: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/27978772/initiation-of-non-invasive-ventilation-in-amyotrophic-lateral-sclerosis-and-clinical-practice-guidelines-single-centre-retrospective-descriptive-study-in-a-national-reference-centre
#13
Marjolaine Georges, Jean-Louis Golmard, Claudia Llontop, Amr Shoukri, François Salachas, Thomas Similowski, Capucine Morelot-Panzini, Jésus Gonzalez-Bermejo
In amyotrophic lateral sclerosis (ALS), respiratory muscle weakness leads to respiratory failure. Non-invasive ventilation (NIV) maintains adequate ventilation in ALS patients. NIV alleviates symptoms and improves survival. In 2006, French guidelines established criteria for NIV initiation based on limited evidence. Their impact on clinical practice remains unknown. Our objective was to describe NIV initiation practices of the main French ALS tertiary referral centre with respect to guidelines. In this retrospective descriptive study, 624 patients followed in a single national reference centre began NIV between 2005 and 2013...
December 15, 2016: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/27978769/genetic-analysis-of-patients-with-familial-and-sporadic-amyotrophic-lateral-sclerosis-in-a-brazilian-research-center
#14
Gerson Chadi, Jessica Ruivo Maximino, Frederico Mennucci de Haidar Jorge, FabríCIO Castro dE Borba, Joyce Meire Gilio, Dagoberto Callegaro, Camila GalvãO Lopes, Samantha Nakamura Dos Santos, Gabriela Natania Sales Rebelo
OBJECTIVE: To investigate gene mutations in familial form (FALS) and sporadic form (SALS) of amyotrophic lateral sclerosis (ALS) in a highly miscegenated population. METHODS: Frequencies of mutations in the C9orfF72, TARDBP, SOD1, FUS and VAPB genes were investigated in a cohort of FALS (n = 39) and SALS (n = 189) subjects from the Research Centre of the University of São Paulo School of Medicine. All patients were subjected to C9orf72 and TARDBP analyses...
December 15, 2016: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/27978764/national-study-of-muscle-cramps-in-als-in-the-usa
#15
Helen E Stephens, Nanette C Joyce, Björn Oskarsson
The objective of this study was to describe muscle cramps in an US sample of amyotrophic lateral sclerosis (ALS) patients. Utilizing an anonymous web based questionnaire we queried ALS patients regarding the severity, frequency, time-course, treatment of muscle cramps and their relationship to pain. The survey had 282 respondents with 92% reporting that they had cramps. For 20% of the sample, cramps were stated to be the presenting ALS symptom. Cramp severity was rated at a mean of 5.2/10 and the mean cramp frequency was 5...
December 15, 2016: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/27936955/sequence-variations-in-c9orf72-downstream-of-the-hexanucleotide-repeat-region-and-its-effect-on-repeat-primed-pcr-interpretation-a-large-multinational-screening-study
#16
Angelica Nordin, Chizuru Akimoto, Anna Wuolikainen, Helena Alstermark, Karin Forsberg, Peter Baumann, Susana Pinto, Mamede de Carvalho, Annemarie Hübers, Frida Nordin, Albert C Ludolph, Jochen H Weishaupt, Thomas Meyer, Torsten Grehl, Kathi Schweikert, Markus Weber, Christian Burkhardt, Christoph Neuwirth, Trygve Holmøy, Mitsuya Morita, Ole-Bjørn Tysnes, Michael Benatar, Joanne Wuu, Dale J Lange, Carsten Bisgård, Nasrin Asgari, Ilkka Tarvainen, Thomas Brännström, Peter M Andersen
A large GGGGCC-repeat expansion mutation (HREM) in C9orf72 is the most common known cause of ALS and FTD in European populations. Sequence variations immediately downstream of the HREM region have previously been observed and have been suggested to be one reason for difficulties in interpreting RP-PCR data. Our objective was to determine the properties of these sequence variations with regard to prevalence, the range of variation, and effect on disease prognosis. We screened a multi-national cohort (n = 6981) for the HREM and samples with deviant RP-PCR curves were identified...
December 12, 2016: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/27931119/assessing-cognitive-functioning-in-als-a-focus-on-frontal-lobe-processes
#17
S M Gillingham, Y Yunusova, A Ganda, E Rogaeva, S E Black, D T Stuss, L Zinman
OBJECTIVE: It is generally acknowledged that at least 50% of individuals with amyotrophic lateral sclerosis (ALS) will exhibit cognitive deficits outside of the characteristic motor neuron involvement. However, a specific cognitive profile has been difficult to ascertain due to disease-related testing barriers and limitations in the sensitivity and specificity of available assessment methods. This study assessed the level of functioning of extramotor frontal cognitive processes in ALS, and the amount of change in the functioning in these processes over time as disease progresses...
December 8, 2016: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/27922756/translation-and-psychometric-evaluation-of-a-korean-version-of-the-amyotrophic-lateral-sclerosis-specific-quality-of-life-revised
#18
Juyeon Oh, Gwi-Ryung Son Hong, Seung Hyun Kim, Jung A Kim
OBJECTIVE: The objective was to translate the Amyotrophic Lateral Sclerosis-Specific Quality of Life - Revised instrument (ALSSQOL-R) into Korean and to examine the psychometric properties of the Korean amyotrophic lateral sclerosis (ALS) population. METHODS: The translation involved forward and backward translation. The psychometric properties of the Korean version of the ALSSQOL-R (K-ALSSQOL-R) were tested by patients in an ALS multidisciplinary clinic in Korea (n = 120)...
December 6, 2016: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/27915482/correlation-between-forced-vital-capacity-and-slow-vital-capacity-for-the-assessment-of-respiratory-involvement-in-amyotrophic-lateral-sclerosis-a-prospective-study
#19
Susana Pinto, Mamede de Carvalho
INTRODUCTION: Slow vital capacity (SVC) and forced vital capacity (FVC) are the most frequent used tests evaluating respiratory function in amyotrophic lateral sclerosis (ALS). No previous study has determined their interchangeability. OBJECTIVE: To evaluate SVC-FVC correlation in ALS. METHODS: Consecutive definite/probable ALS and primary lateral sclerosis (PLS) patients (2000-2014) in whom respiratory tests were performed at baseline/4-6months later were included...
December 4, 2016: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/27899032/proteomic-profiling-of-the-spinal-cord-in-als-decreased-atp5d-levels-suggest-synaptic-dysfunction-in-als-pathogenesis
#20
Jooyeon Engelen-Lee, Anna M Blokhuis, Wim G M Spliet, R Jeroen Pasterkamp, Eleonora Aronica, Jeroen A A Demmers, Roel Broekhuizen, Giovanni Nardo, Niels Bovenschen, Leonard H Van Den Berg
BACKGROUND: We aimed to gain new insights into the pathogenesis of sporadic ALS (sALS) through a comprehensive proteomic analysis. METHODS: Protein profiles of the anterior and posterior horn in post-mortem spinal cord samples of 10 ALS patients and 10 controls were analysed using 2D-differential gel electrophoresis. The identified protein spots with statistically significant level changes and a spot ratio >2.0 were analysed by LC-MS/MS. RESULTS: In the posterior horn only 3 proteins were differentially expressed...
November 29, 2016: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
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