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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Anne-Marie Guennoc, Maud Pallix-Guyot, Emmanuelle Le Page, Damien Le Port, Mathieu Daryabin, Rudolph Hergesheimer, Stéphane Beltran, Ayman Tourbah, Gilles Edan, Philippe Corcia
Amyotrophic lateral sclerosis (ALS) and multiple sclerosis (MS) are two neurological disorders that seem, theoretically, completely divergent according to epidemiological, clinical, pathophysiological, and therapeutic data. However, some reports that have mentioned the occurrence of both conditions within the same patient underpin the suggestion that this co-occurrence might not be random. We report six co-occurrences of ALS and MS cases, focusing on epidemiological and clinical diseases findings. We then compare our cohort to those in the literature...
September 3, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Priya Treesa Thomas, Manjusha G Warrier, Arun Sadasivan, Bhuvaneshwari Balasubramanium, Veeramani Preethish-Kumar, Saraswati Nashi, Kiran Polavarapu, Gopalkrishna Krishna, Seena Vengalil, Prakashi Rajaram, Atchayaram Nalini
AIM: Amyotrophic lateral sclerosis (ALS) or motor neuron disease (MND) is a progressive degenerative disorder that can have significant debilitating impact. Few studies have explored living with ALS in the developing countries. The study aims to understand the relationship between functionality, quality of life, and caregiver burden in ALS in the sociocultural scenario in India. METHODS: A cross-sectional descriptive study was performed among 30 persons with ALS and their caregivers (men = 19; women = 11) receiving treatment from a national quaternary referral care center for Neurological disorders in Southern India...
July 24, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Nimish J Thakore, Brittany R Lapin, Tyler G Kinzy, Erik P Pioro
OBJECTIVES: Propose an empirical amyotrophic lateral sclerosis (ALS) staging approach called Fine'til 9 (FT9) based on how many of the patient's ALS functional rating scale (ALSFRS-R) subscores are 9 or less (of normal 12). Gain insights into progression of ALS by applying Markov models to ALS stages by multiple systems (King's, Milan-Torino system (MITOS) and FT9). METHODS: Patients from the Pooled Resource Open-Access ALS Clinical Trials (PRO-ACT) dataset were staged using ALSFRS-R responses...
July 12, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Barbara Poletti, Federica Solca, Laura Carelli, Andrea Faini, Fabiana Madotto, Annalisa Lafronza, Alessia Monti, Stefano Zago, Andrea Ciammola, Antonia Ratti, Nicola Ticozzi, Sharon Abrahams, Vincenzo Silani
OBJECTIVE: The study presents data on the longitudinal administration of the Italian Edinburgh Cognitive and Behavioral ALS Screen (ECAS). We investigated cognitive-behavioral performance in a group of ALS patients over time and the feasibility of repeating the ECAS longitudinally compared with standard neuropsychological tests. Finally, correlations between clinical/genetic and cognitive/behavioral data were considered. METHODS: One hundred and sixty-eight ALS patients were tested at baseline (T0 )...
August 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
(no author information available yet)
No abstract text is available yet for this article.
August 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
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...
August 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
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...
August 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
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...
August 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
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...
August 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
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...
August 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
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...
August 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
(no author information available yet)
No abstract text is available yet for this article.
August 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
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...
August 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
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...
August 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
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...
August 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Enrica Bersano, Maria Francesca Sarnelli, Valentina Solara, Fabiola De Marchi, Gian Mauro Sacchetti, Alessandro Stecco, Lucia Corrado, Sandra D'alfonso, Roberto Cantello, Letizia Mazzini
We describe a 64-year-old woman, suffering from late-onset obsessive-compulsive disorder (OCD) from the age of 57, who developed dysarthria and dysphagia, spastic diplegic, and proximal muscles weakness. Needle electromyography showed no active denervation. Neuropsychological evaluation showed intact cognitive functioning. We diagnosed upper motor neuron disease (MND), with no known genetic correlates. Brain magnetic resonance (MRI) detected bilateral hippocampal atrophy with sclerosis of right hippocampus...
August 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Esther V Hobson, Wendy O Baird, Rebecca Partridge, Cindy L Cooper, Susan Mawson, Ann Quinn, Pamela J Shaw, Theresa Walsh, Daniel Wolstenholme, Christopher J Mcdermott
OBJECTIVES: Attendance at a specialist multidisciplinary motor neurone disease (MND) clinic is associated with improved survival and may also improve quality of life and reduce hospital admissions. However, patients struggle to travel to clinic and may experience difficulties between clinic visits that may not be addressed in a timely manner. We wanted to explore how we could improve access to specialist MND care. METHODS: We adopted an iterative, user-centered co-design approach, collaborating with those with experience of providing and receiving MND care including patients, carers, clinicians, and technology developers...
August 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Hang Zhang, Wanshi Cai, Siyu Chen, Jialong Liang, Zhanjun Wang, Yuting Ren, Wenxiu Liu, Xiaolan Zhang, Zhongsheng Sun, Xusheng Huang
We investigated all coding regions of 17 known amyotrophic lateral sclerosis (ALS)-related genes in 311 sporadic ALS patients who were of Chinese ancestry using next-generation sequencing technology. All nonsynonymous variants identified were confirmed by Sanger sequencing. 29 (9.32%) patients harbored at least one pathogenic or likely pathogenic variants. Nine (2.8%) patients harbored two or three variants which frequency <1% in population databases that may be related to oligogenic pathogenesis. A higher allele frequency was observed in East Asian than in European patients for the majority variants identified in this screening, which may indicate that genetic factors are responsible for the different clinical characteristics between Chinese and European ALS patients...
August 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Zhouwei Xu, Aven Lee, Amanda Nouwens, Robert David Henderson, Pamela Ann McCombe
Mass spectrometry was used to study blood samples from patients with amyotrophic lateral sclerosis (ALS) and healthy controls. Addenbrooke's cognitive examination-III (ACE-III) was used to test for cognitive impairment (CI). Nano liquid chromatography and time of flight mass spectrometry (MS) were performed on samples from 42 ALS patients and 18 healthy controls. SWATH™ proteomic analysis was utilized to look for differences between groups. Western blot analysis was used to study levels of 4 proteins, selected as being of possible interest in ALS, in the MS discovery cohort and a second validation group of 10 ALS patients and 10 healthy controls...
August 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Philippe Codron, Julien Cassereau, Patrick Vourc'h, Charlotte Veyrat-Durebex, Hélène Blasco, Selma Kane, Vincent Procaccio, Franck Letournel, Christophe Verny, Guy Lenaers, Pascal Reynier, Arnaud Chevrollier
OBJECTIVE: Sporadic amyotrophic lateral sclerosis (sALS) is a fatal neurodegenerative disorder affecting upper and lower motor neurons. In view of the heterogeneous presentation of the disease, one of the current challenges is to identify diagnostic and prognostic markers in order to diagnose sALS at early stage and to stratify patients in trials. In this study, we sought to identify cytological hallmarks of sALS in patient-derived fibroblasts with the aim of finding new clinical-related markers of the disease...
August 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
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