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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

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https://www.readbyqxmd.com/read/28440098/early-diagnosis-of-amyotrophic-lateral-sclerosis-mimic-syndromes-pros-and-cons-of-current-clinical-diagnostic-criteria
#1
Elena Cortés-Vicente, Jesús Pradas, Juan Marín-Lahoz, Noemi De Luna, Jordi Clarimón, Janina Turon-Sans, Ellen Gelpí, Jordi Díaz-Manera, Isabel Illa, Ricard Rojas-Garcia
OBJECTIVE: To describe the frequency and clinical characteristics of patients referred to a tertiary neuromuscular clinic as having amyotrophic lateral sclerosis (ALS) but who were re-diagnosed as having an ALS mimic syndrome, and to identify the reasons that led to the revision of the diagnosis. METHODS: We reviewed the final diagnosis of all patients prospectively registered in the Sant Pau-MND register from 1 January 2004 to 31 December 2015. A detailed clinical evaluation and a clinically-guided electrophysiological study were performed at first evaluation...
April 25, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28431489/apathy-in-amyotrophic-lateral-sclerosis-insights-from-dimensional-apathy-scale
#2
Gabriella Santangelo, Mattia Siciliano, Luigi Trojano, Cinzia Femiano, Maria Rosaria Monsurrò, Gioacchino Tedeschi, Francesca Trojsi
OBJECTIVES: Apathy is associated with cognitive decline and worse survival in amyotrophic lateral sclerosis (ALS); an accurate evaluation of this aspect is relevant in clinical settings. The aims of this study are to evaluate the prevalence of apathy in a large ALS sample, using published diagnostic criteria, and to explore the psychometric properties, the sensitivity and the specificity of the Dimensional Apathy Scale (DAS) as a screening tool for apathy. METHODS: One hundred and thirty-one patients underwent clinical interview based on diagnostic criteria for apathy, DAS, Apathy Evaluation Scale, and assessment of depression, global cognitive functioning, and non-verbal intelligence...
April 21, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28427284/delivering-tertiary-centre-specialty-care-to-als-patients-via-telemedicine-a-retrospective-cohort-analysis
#3
Stephen M Selkirk, Monique O Washington, Frances McClellan, Broderick Flynn, Jacinta M Seton, Richard Strozewski
OBJECTIVE: This study was undertaken to determine if ALS patients evaluated via telemedicine received the same quality of care as patients evaluated by traditional face-to-face encounters. METHODS: A retrospective cohort study design was used. Participants were patients diagnosed with ALS that received multidisciplinary care at the tertiary Cleveland VA ALS Centre between 1 March 2008- and 31 anuary 2015. Participants were not randomised, but chose telemedicine based on preference, disability level or distance from the clinic...
April 21, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28425762/the-evaluation-of-bulbar-dysfunction-in-amyotrophic-lateral-sclerosis-survey-of-clinical-practice-patterns-in-the-united-states
#4
Emily K Plowman, Lauren C Tabor, James Wymer, Gary Pattee
OBJECTIVE: Speech and swallowing impairments are highly prevalent in individuals with amyotrophic lateral sclerosis (ALS) and contribute to reduced quality of life, malnutrition, aspiration, pneumonia and death. Established practice parameters for bulbar dysfunction in ALS do not currently exist. The aim of this study was to identify current practice patterns for the evaluation of speech and swallowing function within participating Northeast ALS clinics in the United States. METHODS AND RESULTS: A 15-item survey was emailed to all registered NEALS centres...
April 20, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28420245/a-first-approach-to-a-neuropsychological-screening-tool-using-eye-tracking-for-bedside-cognitive-testing-based-on-the-edinburgh-cognitive-and-behavioural-als-screen
#5
Jürgen Keller, Amon Krimly, Lisa Bauer, Sarah Schulenburg, Sarah Böhm, Helena E A Aho-Özhan, Ingo Uttner, Martin Gorges, Jan Kassubek, Elmar H Pinkhardt, Sharon Abrahams, Albert C Ludolph, Dorothée Lulé
OBJECTIVE: Reliable assessment of cognitive functions is a challenging task in amyotrophic lateral sclerosis (ALS) patients unable to speak and write. We therefore present an eye-tracking based neuropsychological screening tool based on the Edinburgh Cognitive and Behavioural ALS Screen (ECAS), a standard screening tool for cognitive deficits in ALS. METHODS: In total, 46 ALS patients and 50 healthy controls matched for age, gender and education were tested with an oculomotor based and a standard paper-and-pencil version of the ECAS...
April 19, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28420241/percutaneous-endoscopic-gastrostomy-in-high-risk-als-insights-to-effort-to-drawing-a-risk-map
#6
Antonio M Esquinas, Giancarlo Garuti
No abstract text is available yet for this article.
April 19, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28387141/nationwide-incidence-of-motor-neuron-disease-using-the-french-health-insurance-information-system-database
#7
Sofiane Kab, Frédéric Moisan, Pierre-Marie Preux, Benoît Marin, Alexis Elbaz
OBJECTIVE: There are no estimates of the nationwide incidence of motor neuron disease (MND) in France. We used the French health insurance information system to identify incident MND cases (2012-2014), and compared incidence figures to those from three external sources. METHODS: We identified incident MND cases (2012-2014) based on three data sources (riluzole claims, hospitalisation records, long-term chronic disease benefits), and computed MND incidence by age, gender, and geographic region...
April 7, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28355886/the-diagnostic-utility-of-patient-report-and-speech-language-pathologists-ratings-for-detecting-the-early-onset-of-bulbar-symptoms-due-to-als
#8
Kristen M Allison, Yana Yunusova, Thomas F Campbell, Jun Wang, James D Berry, Jordan R Green
OBJECTIVE: This study aimed to determine the diagnostic utility of clinician speech ratings and patient self-report for detecting early bulbar changes associated with amyotrophic lateral sclerosis (ALS), compared to instrumentation-based speech measures. METHODS: Thirty-six individuals with ALS and 17 healthy control participants were included. Patients' awareness of early bulbar motor involvement was assessed using self-reported scores on the Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R)...
March 29, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28335620/a-novel-mutation-of-bicd2-gene-associated-with-juvenile-amyotrophic-lateral-sclerosis
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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/27915482/correlation-between-forced-vital-capacity-and-slow-vital-capacity-for-the-assessment-of-respiratory-involvement-in-amyotrophic-lateral-sclerosis-a-prospective-study
#20
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
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