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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Francisco Espejo-Porras, Javier Fernández-Ruiz, Eva de Lago
OBJECTIVE: We have investigated the endocannabinoid system in the motor cortex of motor neuron disease (MND) patients. METHODS: Post-mortem samples from MND patients and controls were used for immunostaining and/or Western blotting analysis of endocannabinoid elements. RESULTS: We did not find any evidence of neuronal losses in the motor cortex of MND patients, but elevations in glial markers Iba-1 and GFAP were evident. We found no changes in FAAH and MAGL enzymes and in the CB1 receptor, which correlated with the lack of cortical neuron death...
January 15, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Crystal Jing Jing Yeo, Zachary Simmons
The recent approval of edaravone by the United States Food and Drug Administration has generated a mix of hope tempered by reality. The costs of the drug, both monetarily and with regard to intensity of treatment, are high. The benefits, while modest, will be viewed through a very different lens by individuals depending on their goals of care. By virtue of our training and experience, physicians are ideally suited to understand and explain new treatments to our patients. As healthcare providers with a fiduciary responsibility to our patients, we must make sure they are fully informed about both the costs and benefits of non-curative therapies such as edaravone, and be prepared to discuss these in the context of their goals of care and potential impact on quality of life...
January 15, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Christina N Fournier, David Schoenfeld, James D Berry, Merit E Cudkowicz, James Chan, Colin Quinn, Robert H Brown, Johnny S Salameh, Malu G Tansey, David R Beers, Stanley H Appel, Jonathan D Glass
Neuroinflammation is increasingly tied to disease progression in amyotrophic lateral sclerosis (ALS). Participants in the first-in-human trial of intra-spinal allogeneic stem cell therapy for ALS received immunosuppression, and one participant saw dramatic improvement across multiple outcome measures. The primary objective of this study (NCT01884571) was to assess the rate of clinical response to the same immunosuppressive regimen using basiliximab, tacrolimus, mycophenolate, and prednisone in people with ALS...
January 8, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Éilis J O'Reilly, Kjetil Bjornevik, Michael A Schwarzschild, Marjorie L McCullough, Laurence N Kolonel, Loic Le Marchand, Joann E Manson, Alberto Ascherio
OBJECTIVE: To prospectively examine for the first time the association between plasma urate levels measured in healthy participants and future amyotrophic lateral sclerosis (ALS) risk. METHODS: A pooled case-control study nested in five US prospective cohorts comprising 319,617 participants who provided blood, of which 275 had ALS during follow-up. Pre-diagnostic plasma urate was determined for all participants using a clinical colorimetric enzyme assay. Gender-specific multivariable-adjusted rate ratios (RR) of ALS incidence or death estimated by conditional logistic regression and pooled using inverse-variance weighting...
December 26, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Ola Nakken, Jonas Christoffer Lindstrøm, Ole-Bjørn Tysnes, Trygve Holmøy
OBJECTIVE: In Norway, diagnoses from specialist health care visits, drug prescriptions, and causes of deaths are registered in compulsory health registers. We aimed to determine amyotrophic lateral sclerosis (ALS) prevalence from 2009 to 2015 by combining these registers. METHODS: We validated the Norwegian Patient Registry (NPR) through hospital files, and linked it with the Norwegian Cause of Death Registry and the Norwegian Prescription Database. Poisson regression models were fitted for estimating gender ratios, time trends and possible interactions...
December 22, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Elisabetta Pupillo, Elisa Bianchi, Adriano Chiò, Federico Casale, Chiara Zecca, Rosanna Tortelli, Ettore Beghi
OBJECTIVE: To verify if specific foods and nutrients could be risk factors or protective factors for amyotrophic lateral sclerosis (ALS). METHODS: Patients with newly diagnosed ALS from three Italian administrative regions were included. For each patient, a healthy control, matched for age (±5 years), sex and administrative region of residence, was selected by a general practitioner. Cases and controls were interviewed by a trained investigator who filled a validated and reproducible food-frequency questionnaire...
December 21, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
D Kevin Horton, Shannon Graham, Reshma Punjani, Grete Wilt, Wendy Kaye, Kimberly Maginnis, Lauren Webb, Judy Richman, Richard Bedlack, Edward Tessaro, Paul Mehta
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease that typically results in death within 2-5 years of initial symptom onset. Multidisciplinary ALS clinics (MDCs) have been established to provide specialty care to people living with the disease. OBJECTIVE: To estimate the proximity of ALS prevalence cases to the nearest MDC in the US to help evaluate one aspect of access to care. METHODS: Using 2013 prevalence data from the National ALS Registry, cases were geocoded by city using geographic information system (GIS) software, along with the locations of all MDCs in operation during 2013...
December 20, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Iyas Daghlas, Teresa E Lever, Emily Leary
The revised ALS functional rating scale (ALSFRS-R) is a longitudinal measure of global function commonly used to assess progression of amyotrophic lateral sclerosis (ALS), and as an endpoint in ALS clinical trials. Understanding how baseline covariates affect the rate of functional decline in ALS offers valuable information to clinical trialists. We used a mixed modeling approach in a retrospective study of the pooled resource open-Access ALS clinical trials database to elucidate the associations between baseline covariates and the rate of ALSFRS-R decline over time...
December 20, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Yongping Chen, Qingqing Zhou, Xiaojing Gu, Qianqian Wei, Bei Cao, Hui Liu, Yanbing Hou, Huifang Shang
BACKGROUND: A recent genome-wide association study (GWAS) demonstrated that the Sec1 family domain containing 1 (SCFD1) gene is associated with amyotrophic lateral sclerosis (ALS). The objective of our study was to investigate the association between the single nucleotide polymorphism (SNP) rs10139154 in the SCFD1 gene and ALS in a Chinese cohort. METHODS: A cohort of 1074 sporadic ALS (SALS) patients from the Department of Neurology at the West China Hospital of Sichuan University were genotyped for rs10139154 using a polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) analysis...
December 20, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Samad Jahandideh, Albert A Taylor, Danielle Beaulieu, Mike Keymer, Lisa Meng, Amy Bian, Nazem Atassi, Jinsy Andrews, David L Ennist
OBJECTIVES: Death in amyotrophic lateral sclerosis (ALS) patients is related to respiratory failure, which is assessed in clinical settings by measuring vital capacity. We developed ALS-VC, a modeling tool for longitudinal prediction of vital capacity in ALS patients. METHODS: A gradient boosting machine (GBM) model was trained using the PRO-ACT (Pooled Resource Open-access ALS Clinical Trials) database of over 10,000 ALS patient records. We hypothesized that a reliable vital capacity predictive model could be developed using PRO-ACT...
December 20, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Marc Van De Rijn, Sabrina Paganoni, Mark Levine-Weinberg, Katharine Campbell, Amy Swartz Ellrodt, Juan Estrada, Adam B Cohen, Lee H Schwamm, James D Berry
OBJECTIVE: Telemedicine using video televisits is emerging as a means to provide care directly to patients. Here we report our experience using video televisits to provide follow-up care as a part of the Massachusetts General Hospital (MGH) Telemedicine for People with ALS (TelePALS) initiative. METHODS: This was a retrospective chart review of all video televisit encounters conducted by the MGH ALS clinic between September 2014 and January 2016. RESULTS: A total of 97 distinct ALS patients were seen using video televisits...
December 18, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Connor N Scagnelli, Diantha B Howard, Mark B Bromberg, Edward J Kasarskis, Dwight E Matthews, Hiroshi M Mitsumoto, Zachary Simmons, Rup Tandan
We present a study of hydration in ALS patients and its effects on survival. This was a multicenter study over 48 weeks in 80 ALS patients who underwent 250 individual measurements using doubly labeled water (DLW). Total body water (TBW) and water turnover (a surrogate for water intake) were 3.4% and 8.6% lower, respectively, in patients compared to age- and gender-matched healthy controls, and both significantly decreased over study duration. In 20% of patients, water turnover measured over 10 d was 2 standard deviations below the mean value in healthy controls...
December 15, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Rick A Van Der Spek, Wouter Van Rheenen, Sara L Pulit, Kevin P Kenna, Nicola Ticozzi, Maarten Kooyman, Russell L McLaughlin, Matthieu Moisse, Kristel R Van Eijk, Joke J F A Van Vugt, Peter Andersen, A Nazli Basak, Ian Blair, Mamede De Carvalho, Adriano Chio, Philippe Corcia, Phillipe Couratier, Vivian E Drory, Jonathan D Glass, Orla Hardiman, Jesús S Mora, Karen E Morrison, Miguel Mitne-Neto, Wim Robberecht, Pamela J Shaw, Monica P Panadés, Philip Van Damme, Vincenzo Silani, Marc Gotkine, Markus Weber, Michael A Van Es, John E Landers, Ammar Al-Chalabi, Leonard H Van Den Berg, Jan H Veldink
No abstract text is available yet for this article.
December 13, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Marion C Hogg, Luise Halang, Ina Woods, Karen S Coughlan, Jochen H M Prehn
BACKGROUND: Riluzole is the most widespread therapeutic for treatment of the progressive degenerative disease amyotrophic lateral sclerosis (ALS). Riluzole gained FDA approval in 1995 before the development of ALS mouse models. We assessed riluzole in three transgenic ALS mouse models: the SOD1G93A model, the TDP-43A315T model, and the recently developed FUS (1-359) model. METHODS: Age, sex and litter-matched mice were treated with riluzole (22 mg/kg) in drinking water or vehicle (DMSO) from symptom onset...
December 8, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Peter Bede, Orla Hardiman
BACKGROUND: Cross-sectional imaging studies offer valuable pathological insights into the neurodegenerative changes of amyotrophic lateral sclerosis. However, clinical trials urgently require sensitive monitoring markers that can detect subtle progressive changes over relatively short periods of time. We have conducted a three time-point longitudinal study to explore anatomical patterns of disease spread and to determine whether MRI metrics capture longitudinal changes over four and eight-month intervals...
December 7, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Christopher Crockford, Judith Newton, Katie Lonergan, Caoifa Madden, Iain Mays, Meabhdh O'Sullivan, Emmet Costello, Marta Pinto-Grau, Alice Vajda, Mark Heverin, Niall Pender, Ammar Al-Chalabi, Orla Hardiman, Sharon Abrahams
BACKGROUND: Cognitive impairment affects approximately 50% of people with amyotrophic lateral sclerosis (ALS). Research has indicated that impairment may worsen with disease progression. The Edinburgh Cognitive and Behavioural ALS Screen (ECAS) was designed to measure neuropsychological functioning in ALS, with its alternate forms (ECAS-A, B, and C) allowing for serial assessment over time. OBJECTIVE: The aim of the present study was to establish reliable change scores for the alternate forms of the ECAS, and to explore practice effects and test-retest reliability of the ECAS's alternate forms...
December 7, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Jesús S Mora, Teresa Salas, María Camino Fernández, Víctor Rodríguez-Castillo, Saúl Marín, Delia Chaverri, Francisco Rodríguez-Santos
OBJECTIVE: Adaptation of the ECAS to the Spanish population. METHODS: The ECAS test was adapted and implemented in a random sample of 102 ALS patients. A test-retest reliability of the instrument and internal consistency assessment were carried out. Its convergent validity was determined by comparing the ECAS screen with the ALS Cognitive Behavioural Screen (ALS-CBS), another standard tool. RESULTS: The Spanish adaptation of the ECAS scale preserves the statistical characteristics of the original version...
December 6, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Christopher J Crockford, Michaela Kleynhans, Evelyn Wilton, Ratko Radakovic, Judith Newton, Elaine H Niven, Ammar Al-Chalabi, Orla Hardiman, Thomas H Bak, Sharon Abrahams
BACKGROUND: The Edinburgh Cognitive and Behavioural ALS Screen (ECAS) is a short assessment by which neuropsychological symptoms can be detected and quantified in people with ALS. To avoid potential practice effects with repeated administration, here we present alternative versions of the ECAS suitable for measuring change over time. OBJECTIVE: To develop two alternate versions of the ECAS: ECAS-B and ECAS-C. METHOD: One hundred and forty-nine healthy adult participants were recruited...
December 5, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Gary L Pattee, Emily K Plowman, Benjamin R Brooks, James D Berry, Nazem Atassi, Jennifer L Chapin, Kendrea Garand, Yana Yunusova, Courtney E Mcilduff, Eufrosina Young, John M Costello, Eric A Macklin, Eduardo R Locatelli, Vincenzo Silani, Daragh Heitzman, James Wymer, Stephen A Goutman, Deborah F Gelinas, Richard Smith, Bridget Perry, Paige Nalipinski, Kaila Stipancic, Meghan O'Brien, Stacey L Sullivan, Jordan Green
OBJECTIVE: The aim of this Symposium was to develop a consensus based, bulbar assessment protocol for implementation within NEALS clinics. METHODS: A one-day symposium, held in April 2017, was organized into Speech and Swallowing sections to establish summary recommendations for the assessment of bulbar dysfunction within each group. RESULTS: Summary recommendations included speech referrals and AAC evaluations at initial visit, CNS-BFS, maximum sustained phonation, and speaking rate...
December 5, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Lora L Clawson, Merit Cudkowicz, Lisa Krivickas, Benjamin R Brooks, Mohammed Sanjak, Peggy Allred, Nazem Atassi, Amy Swartz, Gabrielle Steinhorn, Alpa Uchil, Kristen M Riley, Hong Yu, David A Schoenfeld, Nicholas J Maragakis
OBJECTIVE: Evaluate the safety and tolerability of resistance and endurance exercise in ALS participants as measured by their ability to complete this six-month study. METHODS: Participants were randomized to Resistance, Endurance, or Stretching/Range of Motion (SROM the exercise regimen prescribed for most ALS patients) exercises. All exercises were performed at home with an individualized regimen designed by a physical therapist trained in ALS management. Primary outcome measures were tolerability of the exercises at 24 weeks defined by 50% of participants completing at least 50% of the prescribed exercise regimen...
November 30, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
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