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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

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https://www.readbyqxmd.com/read/28728441/ability-of-pulmonary-function-decline-to-predict-death-in-amyotrophic-lateral-sclerosis-patients
#1
Irina Enache, Cristina Pistea, Marie Fleury, Mickael Schaeffer, Monique Oswald-Mammosser, Andoni Echaniz-Laguna, Christine Tranchant, Nicolas Meyer, Anne Charloux
OBJECTIVES: Objectives were to evaluate the relative risk of death associated with lung function decline in patients with amyotrophic lateral sclerosis (ALS), and to examine the ability of ALS patients to perform volitional pulmonary function tests (PFTs). METHODS: The PFTs of 256 consecutive patients referred to the Strasbourg University Hospital ALS Centre over an eight-year period were reviewed. Slow vital capacity (VC), maximal inspiratory and expiratory pressures (MIP, MEP), sniff nasal inspiratory pressure (SNIP), and peak cough flow (PCF) were performed at diagnosis and then every four months...
July 20, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28720005/alsuntangled-41-eric-is-winning
#2
(no author information available yet)
No abstract text is available yet for this article.
July 18, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28719997/the-benefit-of-evolving-multidisciplinary-care-in-als-a-diagnostic-cohort-survival-comparison
#3
Sarah Martin, Emma Trevor-Jones, Sabyha Khan, Keelan Shaw, Deepti Marchment, Anna Kulka, Catherine E Ellis, Rachel Burman, Martin R Turner, Liam Carroll, Leah Mursaleen, P Nigel Leigh, Christopher E Shaw, Neil Pearce, Daniel Stahl, Ammar Al-Chalabi
BACKGROUND: Care for people with amyotrophic lateral sclerosis (ALS) has altered at King's College Hospital over the last 20 years. The clinic has been a multidisciplinary, specialist, tertiary referral centre since 1995 with a large team with integrated palliative and respiratory care since 2006. We hypothesised that these changes would improve survival. METHODS: In this retrospective observational study, patients diagnosed with El Escorial definite, probable and possible ALS between 1995-1998 and 2008-2011 were followed up...
July 18, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28705085/international-survey-of-als-experts-about-critical-questions-for-assessing-patients-with-als
#4
Mamede De Carvalho, Adam Ryczkowski, Peter Andersen, Marta Gromicho, Julian Grosskreutz, Magdalena Kuźma-Kozakiewicz, Susanne Petri, Maria Piotrkiewicz, Gabriel Miltenberger Miltenyi
OBJECTIVE: To define an applicable dataset for ALS patient registries we weighted specific clinical items as scored by worldwide ALS experts. METHODS: Sixty participants were invited based on relevant clinical work, publications and personal acquaintance. They rated 160 clinical items consensually agreed by the members of our project, incorporating specialists from five European Centres. Scoring scheme was defined as: 1 - essential; 2 - important; 3 - not very important...
July 13, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28705014/mutation-in-the-rrm2-domain-of-tdp-43-in-amyotrophic-lateral-sclerosis-with-rapid-progression-associated-with-ubiquitin-positive-aggregates-in-cultured-motor-neurons
#5
Cindy Maurel, Blandine Madji-Hounoum, Rose-Anne Thepault, Sylviane Marouillat, Céline Brulard, Véronique Danel-Brunaud, Jean-Philippe Camdessanche, Helene Blasco, Philippe Corcia, Christian R Andres, Patrick Vourc'h
Mutations in the TAR-DNA Binding Protein-43 (TDP-43) encoding the TARDBP gene are present in amyotrophic lateral sclerosis (ALS). TDP-43 is the major component of ubiquitin-positive inclusions in motor neurons in ALS patients. We report here a novel heterozygous missense mutation in TARDBP in an ALS patient presenting a rapid form of ALS. This mutation p.N259S is located within the RNA recognition motif 2 (RRM2) in very close proximity with nucleotides in RNA. It is the first time a mutation was reported in this RRM2 domain of TDP-43...
July 13, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28678542/incorporation-of-telehealth-into-a-multidisciplinary-als-clinic-feasibility-and-acceptability
#6
Andrew Geronimo, Courtney Wright, Anne Morris, Susan Walsh, Bethany Snyder, Zachary Simmons
OBJECTIVE: The practice of telehealth in the care of patients with ALS has received little attention, but has the potential to change the multidisciplinary care model. This study was carried out to assess the feasibility and acceptability of telehealth for ALS care via real-time videoconferencing from the clinic to patients' homes. METHODS: Patients and caregivers engaged in live telehealth videoconferencing from their homes with members of a multidisciplinary ALS care team who were located in an ALS clinic, in place of their usual in-person visit to the clinic...
July 5, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28664756/late-onset-bipolar-disorder-and-frontotemporal-dementia-with-mutation-in-progranulin-gene-a-case-report
#7
Elisa Rubino, Alessandro Vacca, Salvatore Gallone, Flora Govone, Milena Zucca, Annalisa Gai, Patrizia Ferrero, Pierpaola Fenoglio, Maria Teresa Giordana, Innocenzo Rainero
Bipolar disorder is a chronic psychiatric illness characterised by fluctuation in mood state, with a relapsing and remitting course. Frontotemporal dementia (FTD) is a clinically and genetically heterogeneous syndrome, with the most frequent phenotype being behavioural variant frontotemporal dementia (bvFTD). Here, we report the case of an Italian male presenting with late-onset bipolar disorder that developed into bvFTD over time, carrying a mutation in the GRN gene. Interestingly, the patient carried the c...
June 30, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28651439/erratum
#8
(no author information available yet)
No abstract text is available yet for this article.
June 26, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28618842/alsuntangled-40-ayahuasca
#9
(no author information available yet)
No abstract text is available yet for this article.
June 15, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28616937/influence-of-arterial-hypertension-type-2-diabetes-and-cardiovascular-risk-factors-on-als-outcome-a-population-based-study
#10
Cristina Moglia, Andrea Calvo, Antonio Canosa, Davide Bertuzzo, Paolo Cugnasco, Luca Solero, Maurizio Grassano, Enrica Bersano, Stefania Cammarosano, Umberto Manera, Fabrizio Pisano, Letizia Mazzini, Laura A Dalla Vecchia, Gabriele Mora, Adriano Chiò
OBJECTIVE: To assess the prognostic influence of pre-morbid type 2 diabetes mellitus, arterial hypertension and cardiovascular (CV) risk profile on ALS phenotype and outcome in a population-based cohort of Italian patients. METHODS: A total of 650 ALS patients from the Piemonte/Valle d'Aosta Register for ALS, incident in the 2007-2011 period, were recruited. Information about premorbid presence of type 2 diabetes mellitus, arterial hypertension was collected at the time of diagnosis...
June 15, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28616933/split-hand-index-and-ulnar-to-median-ratio-in-hirayama-disease-and-amyotrophic-lateral-sclerosis
#11
Jayantee Kalita, Surendra Kumar, Usha K Misra, Zafar Neyaz
OBJECTIVE: We report the relative usefulness of split hand index (SHI) and ulnar to median (UM) ratio in Hirayama disease (HD) and amyotrophic lateral sclerosis (ALS). METHODS: The patients with HD, ALS and matched controls were subjected to evaluation of UM ratio and SHI. Compound muscle action potentials (CMAPs) were recorded from abductor digit minimi (ADM) and first dorsal interosseous (FDI) by stimulating ulnar nerve at the wrist, and abductor pollicis brevis (APB) by stimulating median nerve at the wrist...
June 15, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28597697/effectiveness-of-assisted-and-unassisted-cough-capacity-in-amyotrophic-lateral-sclerosis-patients
#12
Jesús Sancho, Emilio Servera, Pilar Bañuls, Julio Marín
Decreased cough capacity during a respiratory infection is one of the main causes of acute respiratory failure and hospitalisation in amyotrophic lateral sclerosis (ALS). OBJECTIVE: To determine whether a respiratory measurement could identify the effectiveness of cough capacity in ALS during a respiratory infection. METHODS: This was a prospective study of all ALS patients who were treated at a respiratory care unit due to a respiratory infection from 2012 to 2016...
June 9, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28593798/nocebo-in-motor-neuron-disease-systematic-review-and-meta-analysis-of-placebo-controlled-clinical-trials
#13
Faiza Shafiq, Dimos-Dimitrios Mitsikostas, Panagiotis Zis
INTRODUCTION: Nocebo is very prevalent among neurological disorders, resulting in low adherence and treatment outcome. We sought to examine the AEs following placebo administration in placebo-controlled randomised clinical trials (RCTs) for motor neuron disease (MND). METHODS: After a systematic literature search for RCTs for MND pharmacotherapy treatments, we assessed the number of discontinuations because of placebo intolerance. RESULTS: Data were extracted from 12 RCTs fulfilling our search criteria...
June 8, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28585888/predictive-genetic-testing-for-amyotrophic-lateral-sclerosis-and-frontotemporal-dementia-genetic-counselling-considerations
#14
Ashley Crook, Kelly Williams, Lorel Adams, Ian Blair, Dominic B Rowe
Once a gene mutation that is causal of amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD) is identified in a family, relatives may decide to undergo predictive genetic testing to determine whether they are at risk of developing disease. Recent advances in gene discovery have led to a pressing need to better understand the implications of predictive genetic testing. Here we review the uptake of genetic counselling, predictive and reproductive testing, and the factors that impact the decision to undergo testing, for consideration in clinical practice...
June 6, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28585472/home-care-organization-impacts-patient-management-and-survival-in-als
#15
Sylvie Lavernhe, Jean-Christophe Antoine, Isabelle Court-Fortune, Nathalie Dimier, Frédéric Costes, Arnaud Lacour, Jean-Philippe Camdessanché
OBJECTIVE: Progression of amyotrophic lateral sclerosis (ALS) depends on several factors linked to the disease. However, both the patient's living place and care organization role need to be evaluated. METHODS: We analysed the effect on survival of factors linked to ALS or the socio-geographical context in a prospective cohort of 203 patients followed between 2003 and 2011. RESULTS: Patients were 97 females and 106 males with a mean age of 65...
June 6, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28569083/magnetic-fields-exposure-from-high-voltage-power-lines-and-risk-of-amyotrophic-lateral-sclerosis-in-two-italian-populations
#16
Marco Vinceti, Carlotta Malagoli, Sara Fabbi, Leeka Kheifets, Federica Violi, Maurizio Poli, Salvatore Caldara, Daniela Sesti, Silvia Violanti, Paolo Zanichelli, Barbara Notari, Roberto Fava, Alessia Arena, Roberta Calzolari, Tommaso Filippini, Laura Iacuzio, Elisa Arcolin, Jessica Mandrioli, Nicola Fini, Anna Odone, Carlo Signorelli, Francesco Patti, Mario Zappia, Vladimiro Pietrini, Paola Oleari, Sergio Teggi, Grazia Ghermandi, Angela Dimartino, Caterina Ledda, Cristina Mauceri, Salvatore Sciacca, Maria Fiore, Margherita Ferrante
The aetiology of amyotrophic lateral sclerosis (ALS), a rare and extremely severe neurodegenerative disease, has been associated with magnetic fields exposure. However, evidence for such a relation in the general population is weak, although the previous null results might also be due to exposure misclassification, or a relationship might exist only for selected subgroups. To test such a hypothesis we carried out a population-based case-control study in two Northern and Southern Italy regions, including 703 ALS cases newly diagnosed from 1998 to 2011 and 2737 controls randomly selected from the residents in the study provinces...
June 1, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28562080/neuroimaging-patterns-along-the-als-ftd-spectrum-a-multiparametric-imaging-study
#17
Taha Omer, Eoin Finegan, Siobhan Hutchinson, Mark Doherty, Alice Vajda, Russell L McLaughlin, Niall Pender, Orla Hardiman, Peter Bede
Frontotemporal dementia is associated with considerable clinical, genetic and pathological heterogeneity. The objective of this study is to characterise the imaging signatures of the main FTD phenotypes along the ALS-FTD spectrum. A total of 100 participants underwent comprehensive multimodal neuroimaging, genetic testing and neuropsychological evaluation. Seven patients with behavioural variant FTD (bvFTD), 11 patients with non-fluent-variant primary progressive aphasia (nfvPPA), two patients with sematic-variant primary progressive aphasia(svPPA), 10 patients with amyotrophic lateral sclerosis and FTD carrying the C9orf72 hexanucleotide repeat (C9 + ALS-FTD), 10 patients with ALS-FTD without hexanucleotide repeats (C9-ALS-FTD), 20 ALS patients without behavioural or cognitive deficits (ALSnci) and 40 healthy controls (HC) were included in a prospective quantitative neuroimaging study...
May 31, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28562075/c9orf72-mutations-do-not-influence-the-tau-signature-of-amyotrophic-lateral-sclerosis-with-cognitive-impairment-alsci
#18
Kathryn Volkening, Wendy L Strong, Shauntel Seaton, Wencheng Yang, Michael J Strong
OBJECTIVE: C9orf72 mutations are associated with amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD) and ALS-FTD. In addition to ALS-FTD, ALS patients may develop a spectrum of neuropsychological and neuropsychiatric deficits including ALS with cognitive impairment (ALSci). Here we examine the extent to which C9orf72 mutations are associated with ALSci and whether this alters the tau molecular signature. METHODS: We identified 16 ALSci cases within a post-mortem archive of 94 fully genotyped ALS cases, eight of which harboured a C9orf72 mutation, in addition to three cognitively-intact ALS cases with a C9orf72 mutation...
May 31, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28513234/the-development-of-the-uk-national-institute-of-health-and-care-excellence-evidence-based-clinical-guidelines-on-motor-neurone-disease
#19
David Oliver, Aleksandar Radunovic, Alexander Allen, Christopher McDermott
The care of people with motor neuron disease/amyotrophic lateral sclerosis is often complex and involves a wide multidisciplinary team approach. The National Institute for Health and Care Excellence (NICE) in the UK has produced an evidence based guideline for the management of patients. This has made recommendations, based on clear evidence or consensus discussion. The evidence is often limited and areas for further research are suggested.
May 17, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28485644/impairment-of-triad-conditioned-facilitation-in-amyotrophic-lateral-sclerosis
#20
Stefan J Groiss, Hitoshi Mochizuki, Ritsuko Hanajima, Carlos Trenado, Setsu Nakatani-Enomoto, Koji Otani, Yoshikazu Ugawa
OBJECTIVES: The triad conditioned facilitation (TCF) technique has been shown to detect motor cortical intrinsic rhythms depending on the functioning of specific cortical layers by measuring motor evoked potential (MEP) enhancement after a triad of conditioning TMS pulses at a certain interval. However, the influence of cortical degeneration on TCF is still undetermined. We therefore studied TCF in patients with amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder characterised by degeneration of the motor cortex...
May 9, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
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