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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

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https://www.readbyqxmd.com/read/29707972/corrigendum
#1
(no author information available yet)
No abstract text is available yet for this article.
April 30, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29693424/alsuntangled-45-antiretrovirals
#2
(no author information available yet)
No abstract text is available yet for this article.
April 25, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29661084/understanding-the-use-of-niv-in-als-results-of-an-international-als-specialist-survey
#3
Terry D Heiman-Patterson, Merit E Cudkowicz, Mamede De Carvalho, Angela Genge, Orla Hardiman, Carlayne E Jackson, Noah Lechtzin, Hiroshi Mitsumoto, Vincenzo Silani, Jinsy A Andrews, Dafeng Chen, Sarah Kulke, Stacy A Rudnicki, Leonard H van den Berg
OBJECTIVE: To identify common practices of noninvasive ventilation (NIV) use among ALS specialists and how they follow respiratory status in their patients. METHODS: A 25-item questionnaire on NIV indications/initiation was sent via SurveyMonkey® to ALS specialists identified through membership in NEALS (114 sites in the US) and ENCALS (39 sites in Europe). Descriptive statistics and Cochran-Mantel-Haenszel test for general association were performed. RESULTS: In their initial evaluation, US and European specialists (n = 186) use upright forced vital capacity (FVC) most (92...
April 16, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29658324/prediagnostic-body-size-and-risk-of-amyotrophic-lateral-sclerosis-death-in-10-studies
#4
Éilis J O'Reilly, Molin Wang, Hans-Olov Adami, Alvaro Alonso, Leslie Bernstein, Piet van den Brandt, Julie Buring, Sarah Daugherty, Dennis Deapen, D Michal Freedman, Dallas R English, Graham G Giles, Niclas Håkansson, Tobias Kurth, Catherine Schairer, Elisabete Weiderpass, Alicja Wolk, Stephanie A Smith-Warner
OBJECTIVES AND METHODS: Using pooled multivariable-adjusted rate ratios (RR), we explored relationships between prediagnostic body-mass-index (BMI), waist-to-hip-ratio (WHR), and weight-gain during adulthood, and ALS in 419,894 women and 148,166 men from 10 community-based cohorts in USA, Europe, and Australia; 428 ALS deaths were documented in women and 204 in men. RESULTS: Higher mid-to-later adulthood BMI was associated with lower ALS mortality. For 5 kg/m2 increased BMI, the rate was 15% lower (95% confidence interval [CI]: 4-24%; p = 0...
April 16, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29609497/a-novel-d90_k91insn-mutation-in-exon-4-of-the-sod1-gene-caused-familial-amyotrophic-lateral-sclerosis-in-a-chinese-pedigree
#5
Yanran Li, Bo Sun, Siyu Chen, Yuting Ren, Fang Cui, Fei Yang, Zhaohui Chen, Li Ling, Xusheng Huang
We reported a novel heterozygous duplication mutation (c.272_274dupACA, D90_K91insN) in exon 4 of the SOD1 gene in a Chinese pedigree. This pedigree demonstrates an autosomal dominant pattern of inheritance, with potentially reduced penetrance. The clinical phenotype was rather uniform with a distal lower extremity onset, predominant involvement of lower motor neurons (LMNs), and a relatively short survival time (mean 2.6 years) compared with other mutations in the loop V structure of SOD1. We also detected that the average SOD1 activity in D90_K91insN mutation carriers is 68...
April 2, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29607695/-als-reversals-demographics-disease-characteristics-treatments-and-co-morbidities
#6
Daniel Harrison, Paul Mehta, Michael A van Es, Elijah Stommel, Vivian E Drory, Beatrice Nefussy, Leonard H van den Berg, Jesse Crayle, Richard Bedlack
OBJECTIVE: To identify differences in demographics, disease characteristics, treatments, and co-morbidities between patients with "amyotrophic lateral sclerosis (ALS) reversals" and those with typically progressive ALS. METHODS: Cases of possible ALS reversals were found in prior publications, in the Duke ALS clinic, through self-referral or referral from other Neurologists, and on the internet. Of 89 possible reversals identified, 36 cases were included because chart or literature review confirmed their diagnosis and a robust, sustained improvement in at least one objective measure...
April 2, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29569488/structural-and-functional-properties-of-bone-are-compromised-in-amyotrophic-lateral-sclerosis-mice
#7
Frank C Ko, Jia Li, Daniel J Brooks, Seward B Rutkove, Mary L Bouxsein
In addition to muscle weakness, amyotrophic lateral sclerosis (ALS) is associated with an increased incidence of skeletal fractures. The SOD1G93A mouse model recapitulates many features of human ALS. These mice also exhibit decreased bone mass. However, the functional, or biomechanical, behavior of the skeleton in SOD1G93A mice has not been investigated. To do so, we examined skeletal phenotypes in end-stage (16-week-old) SOD1G93A female mice and healthy littermate female controls (N = 9-10/group). Outcomes included trabecular and cortical bone microarchitecture by microcomputed tomography; stiffness and strength via three-point bending; resistance to crack growth by fracture toughness testing; and cortical bone matrix properties via cyclic reference point indentation...
March 23, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29566571/respiratory-measures-in-amyotrophic-lateral-sclerosis
#8
Noah Lechtzin, Merit E Cudkowicz, Mamede de Carvalho, Angela Genge, Orla Hardiman, Hiroshi Mitsumoto, Jesus S Mora, Jeremy Shefner, Leonard H Van den Berg, Jinsy A Andrews
OBJECTIVE: Amyotrophic lateral sclerosis (ALS) is a progressive neuromuscular disease that causes skeletal muscle weakness, including muscles involved with respiration. Death often results from respiratory failure within 3-5 years. Monitoring respiratory status is therefore critical to ALS management, as respiratory/pulmonary function tests (PFTs) are used to make decisions including when to initiate noninvasive ventilation. Understanding the different respiratory and PFTs as they relate to disease progression and survival may help determine which tests are most suitable...
March 23, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29564924/identification-of-an-a4v-sod1-mutation-in-a-chinese-patient-with-amyotrophic-lateral-sclerosis-without-the-a4v-founder-effect-common-in-north-america
#9
Lu Tang, Yan Ma, Xiaolu Liu, Lu Chen, Dongsheng Fan
We identified a missense alanine to valine mutation at codon 4 (A4V) in the Cu/Zn superoxide dismutase (SOD1) gene in a 51-year-old male of Chinese origin with familial amyotrophic lateral sclerosis (ALS). The patient displayed a typical A4V-related phenotype that included rapid progression and predominant lower motor neuron involvement. This patient is the first such carrier reported outside Caucasian ALS patients, despite the fact that A4V mutations account for up to 50% of all SOD1 mutations in North America...
March 22, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29558868/identification-of-compound-heterozygous-variants-in-optn-in-an-als-ftd-patient-from-the-create-consortium-a-case-report
#10
Cyril Pottier, Evadnie Rampersaud, Matt Baker, Gang Wu, Joanne Wuu, Jacob L McCauley, Stephan Zuchner, Rebecca Schule, Christin Bermudez, Sumaira Hussain, Anne Cooley, Marielle Wallace, Jinghui Zhang, J Paul Taylor, Michael Benatar, Rosa Rademakers
Homozygous loss-of-function mutations in optineurin (OPTN) are a rare cause of amyotrophic lateral sclerosis (ALS), whereas heterozygous loss-of-function mutations have been suggested to increase ALS disease risk. We report a patient with ALS and frontotemporal dementia (FTD) from the Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium carrying compound heterozygous loss-of-function variants in OPTN. Quantitative real-time mRNA expression analyses revealed a 75-80% reduction in OPTN expression in blood in the OPTN carrier as compared to controls, suggesting at least partial nonsense-mediated decay of the mutant transcripts...
March 20, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29558831/corrigendum
#11
(no author information available yet)
No abstract text is available yet for this article.
March 20, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29557178/trem2-variants-in-neurodegenerative-disorders-in-the-polish-population-homozygosity-and-compound-heterozygosity-in-ftd-patients
#12
Beata Peplonska, Mariusz Berdynski, Monika Mandecka, Anna Barczak, Magdalena Kuzma-Kozakiewicz, Maria Barcikowska, Cezary Zekanowski
Activation of the TREM2 receptor on microglia stimulates phagocytosis and decreases the microglial proinflammatory response. Mutations in exon 2 of the TREM2 gene have been reported to be associated with various neurodegenerative diseases characterized by chronic inflammation. The aim of our study was to evaluate exon 2 of TREM2 gene variants as a putative genetic risk factor for Alzheimer's disease (AD), frontotemporal dementia (FTD), and amyotrophic lateral sclerosis (ALS) in the Polish population. The results were interpreted using previously published data, especially highlighting differences in the prevalence of the variants among Caucasian subpopulations across different geographic regions...
March 20, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29493344/alsuntangled-44-curcumin
#13
Richard Bedlack
No abstract text is available yet for this article.
March 1, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29493298/phenotypic-and-genotypic-studies-of-als-cases-in-als-sma-families
#14
Philippe Corcia, Patrick Vourc'h, Helene Blasco, Philippe Couratier, Audrey Dangoumau, Remi Bellance, Claude Desnuelle, Fausto Viader, Vivien Pautot, Stephanie Millecamps, Salah Bakkouche, FranÇois Salachas, Christian R Andres, Vincent Meininger, William Camu
BACKGROUND: Amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) are the most frequent motor neuron disorders in adulthood and infancy, respectively. There is a growing literature supporting common pathophysiological patterns between those disorders. One important clinical issue for that is the co-occurrence of both diseases within a family. OBJECTIVES: To collect families in which ALS and SMA patients co-exist and describe the phenotype and the genotype of ALS patients...
March 1, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29490503/characterization-of-the-c9orf72-gc-rich-low-complexity-sequence-in-two-cohorts-of-italian-and-turkish-als-cases
#15
Lucia Corrado, Cinzia Tiloca, Clarissa Locci, Alessandra Bagarotti, Hamid Hamzeiy, Claudia Colombrita, Fabiola De Marchi, Nadia Barizzone, Diego Cotella, Nicola Ticozzi, Letizia Mazzini, Ayse Nazli Basak, Antonia Ratti, Vincenzo Silani, Sandra D'alfonso
Large expansions of a noncoding GGGGCC repeat in the C9orf72 gene are the main cause of amyotrophic lateral sclerosis (ALS). The GGGGCC repeat is contiguous with another GC-rich region. Recent studies reported a significantly higher frequency of insertions/deletions within the GC-rich region in patients carrying the GGGGCC expansion. A GTGGT motif comprised within the GC-rich region, which joins two 100% GC sequences, was frequently deleted, supporting the hypothesis that these deletions could make the region more prone to slippage and pathological expansion...
February 28, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29488394/erratum
#16
(no author information available yet)
No abstract text is available yet for this article.
May 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29402141/vitality-als-a-phase-iii-trial-of-tirasemtiv-a-selective-fast-skeletal-muscle-troponin-activator-as-a-potential-treatment-for-patients-with-amyotrophic-lateral-sclerosis-study-design-and-baseline-characteristics
#17
Jinsy A Andrews, Merit E Cudkowicz, Orla Hardiman, Lisa Meng, Amy Bian, Jacqueline Lee, Andrew A Wolff, Fady I Malik, Jeremy M Shefner
OBJECTIVE: To assess the efficacy of tirasemtiv, a fast skeletal muscle troponin activator, vs. placebo on respiratory function and other functional measures in patients with amyotrophic lateral sclerosis (ALS). This study was designed to confirm and extend results from a large phase IIb trial and maximize tolerability with a slower dose escalation. METHODS: VITALITY-ALS (NCT02496767) was a multinational, double-blind, randomized, placebo-controlled, parallel-group study in ALS patients...
May 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29383960/spatial-analyses-of-als-incidence-in-denmark-over-three-decades
#18
Verónica M Vieira, Johnni Hansen, Ole Gredal, Marc G Weisskopf
OBJECTIVE: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of the motor neuron with very few known risk factors. We conducted a spatial epidemiologic analysis of ALS incidence in Denmark to assess the contribution of sociodemographic determinants to geographic variation. METHODS: We analyzed 4249 ALS cases (1982-2013), each with 100 controls matched on sex and birth year. Odds ratio and 95% confidence bands at birth and diagnosis/index locations were calculated using generalized additive models...
May 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29382218/motor-neuron-disease-mortality-rates-in-new-zealand-1992-2013
#19
Maize C Cao, Andrew Chancellor, Alison Charleston, Mike Dragunow, Emma L Scotter
BACKGROUND: We determined the mortality rates of motor neuron disease (MND) in New Zealand over 22 years from 1992 to 2013. Previous studies have found an unusually high and/or increasing incidence of MND in certain regions of New Zealand; however, no studies have examined MND rates nationwide to corroborate this. METHODS: Death certificate data coded G12.2 by International Classification of Diseases (ICD)-10 coding, or 335.2 by ICD-9 coding were obtained. These codes specify amyotrophic lateral sclerosis, progressive bulbar palsy, or other motor neuron diseases as the underlying cause of death...
May 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29334251/discussing-edaravone-with-the-als-patient-an-ethical-framework-from-a-u-s-perspective
#20
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...
May 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
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