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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

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https://www.readbyqxmd.com/read/28335620/a-novel-mutation-of-bicd2-gene-associated-with-juvenile-amyotrophic-lateral-sclerosis
#1
Xiao Huang, Dongsheng Fan
No abstract text is available yet for this article.
March 23, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28325066/comprehensive-analysis-to-explain-reduced-or-increased-sod1-enzymatic-activity-in-als-patients-and-their-relatives
#2
Isil Keskin, Anna Birve, Mariusz Berdynski, Karin Hjertkvist, Reza Rofougaran, Torbjörn K Nilsson, Jonathan D Glass, Stefan L Marklund, Peter M Andersen
OBJECTIVE: To characterise stabilities in erythrocytes of mutant SOD1 proteins, compare SOD1 enzymatic activities between patients with different genetic causes of ALS and search for underlying causes of deviant SOD1 activities in individuals lacking SOD1 mutations. METHODS: Blood samples from 4072 individuals, ALS patients with or without a SOD1 mutation, family members and controls were studied. Erythrocyte SOD1 enzymatic activities normalised to haemoglobin content were determined, and effects of haemoglobin disorders on dismutation assessed...
March 21, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28316249/association-of-fractures-with-the-incidence-of-amyotrophic-lateral-sclerosis
#3
Tracy L Peters, Caroline E Weibull, Fang Fang, Dale P Sandler, Paul C Lambert, Weimin Ye, Freya Kamel
OBJECTIVE: Elevated bone turnover observed in ALS patients suggests poor bone health and increased fracture risk. We therefore evaluated the relationship of fracture to subsequent ALS risk. METHODS: We followed 4,529,460 Swedes from 1987 to 2010 and identified ALS and fractures from the Swedish National Patient Register. We examined associations of ALS risk with all fractures, osteoporotic and non-osteoporotic fractures, and traumatic and non-traumatic fractures among individuals aged 30-80 years...
March 20, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28288524/initiation-of-non-invasive-ventilation-in-amyotrophic-lateral-sclerosis-looking-for-some-details-from-the-guidelines
#4
Giuseppe Fiorentino, Antonio M Esquinas
No abstract text is available yet for this article.
March 13, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28288521/young-onset-rapidly-progressive-als-associated-with-heterozygous-fus-mutation
#5
Marta Gromicho, Miguel Oliveira Santos, Anabela Pinto, Ana Pronto-Laborinho, Mamede De Carvalho
We report a 36-years-old Cape Verdean man who presented with respiratory insufficiency due to rapidly progressive sporadic amyotrophic lateral sclerosis (ALS), in whom FUS mutation c.1551C > G (p.Hist517Gln) in heterozygosity was identified, a finding previously described as non-pathogenic. The only previous report on this mutation was in a family from Cape Verde in which four members developed ALS; all were homozygous for the mutation. This case shows that this FUS mutation presents a highly variable penetrance and expressivity...
March 13, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28281833/mutations-of-ccnf-gene-is-rare-in-patients-with-amyotrophic-lateral-sclerosis-and-frontotemporal-dementia-from-mainland-china
#6
Chuzheng Pan, Bin Jiao, Tingting Xiao, Lihua Hou, Weiwei Zhang, Xi Liu, Jun Xu, Beisha Tang, Lu Shen
OBJECTIVE: Mutations of the cyclin F (CCNF) gene were recently identified to be associated with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in Western and Japanese populations. The rare protein-altering variants frequency is 0.6 to 3.3% in ALS and FTD from these diverse geographic populations while no systematic analysis of CCNF variants were conducted in the Chinese population. METHODS: We screened all exons of CCNF in a cohort of 269 cases (including 181 ALS and 88 FTD) from Mainland China using Sanger sequencing...
March 10, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28281365/seasons-and-als-time-of-death
#7
Susana Pinto, Mamede De Carvalho
INTRODUCTION: Respiratory complications are the main cause of death in amyotrophic lateral sclerosis (ALS). Season-associated-death risk was not addressed before. OBJECTIVE: To assess month/season-associated death risk in ALS. METHODS: We included all patients followed in our unit who died before 1 January 2016, excluding those with uncertain information. A χ(2) test assessed differences between months/seasons. A two-step cluster analysis explored the significant survival independent factors...
March 10, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28166654/open-label-study-to-assess-the-safety-of-vm202-in-subjects-with-amyotrophic-lateral-sclerosis
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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/27915482/correlation-between-forced-vital-capacity-and-slow-vital-capacity-for-the-assessment-of-respiratory-involvement-in-amyotrophic-lateral-sclerosis-a-prospective-study
#18
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...
February 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/27677562/serum-urate-at-trial-entry-and-als-progression-in-empower
#19
ÉIlis J O'Reilly, Dawei Liu, Donald R Johns, Merit E Cudkowicz, Sabrina Paganoni, Michael A Schwarzschild, Melanie Leitner, Alberto Ascherio
Our objective was to determine whether serum urate predicts ALS progression. A study population comprised adult participants of EMPOWER (n = 942), a phase III clinical trial to evaluate the efficacy of dexpramipexole to treat ALS. Urate was measured in blood samples collected during enrollment as part of the routine block chemistry. We measured outcomes by combined assessment of function and survival rank (CAFs), and time to death, by 12 months. Results showed that in females there was not a significant relation between urate and outcomes...
February 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/27579520/a-multicentre-evaluation-of-oropharyngeal-secretion-management-practices-in-amyotrophic-lateral-sclerosis
#20
Alexander J McGeachan, Esther V Hobson, Ammar Al-Chalabi, Jodie Stephenson, Siddharthan Chandran, Francesca Crawley, David Dick, Colette Donaghy, Cathy M Ellis, George Gorrie, C Oliver Hanemann, Timothy Harrower, Agam Jung, Andrea Malaspina, Karen E Morrison, Richard W Orrell, Kevin Talbot, Martin R Turner, Timothy L Williams, Carolyn A Young, Pamela J Shaw, Christopher J McDermott
Failure to clear oral secretions can be debilitating for patients with amyotrophic lateral sclerosis (ALS), but the treatment of this symptom is poorly defined and there is no consensus on best practice. The objective of this study was to identify the treatments that are commonly prescribed, and to describe how experienced clinicians manage a patient with treatment resistant symptoms. Twenty-three clinicians were approached, of which 19 from 16 centres across the UK provided case report forms for a total of 119 ALS patients identified as having problematic oral secretions...
February 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
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