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bulbar ALS

Vittorio Govoni, Elena Della Coletta, Edward Cesnik, Ilaria Casetta, Enrico Granieri
Pathogenesis could play an important role in the mid- to late-life onset of symptoms in amyotrophic lateral sclerosis (ALS). An analysis of the age at onset of ALS among the incident cases occurring in the population in the Health District of Ferrara, Italy, in the period 1064-2009 was carried out. Two subsequent 23-year time intervals (1964-1986 and 1987-2009) were considered. The mean age at onset (MAAO) was estimated in relation to gender, onset type and area of residence (urban or extra-urban) at disease onset among the incident cases which occurred in the two subsequent time intervals...
October 19, 2016: Acta Neurologica Belgica
Paul Talman, Thi Duong, Steve Vucic, Susan Mathers, Svetha Venkatesh, Robert Henderson, Dominic Rowe, David Schultz, Robert Edis, Merrilee Needham, Richard Macdonnell, Pamela McCombe, Carol Birks, Matthew Kiernan
OBJECTIVE: To capture the clinical patterns, timing of key milestones and survival of patients presenting with amyotrophic lateral sclerosis/motor neuron disease (ALS/MND) within Australia. METHODS: Data were prospectively collected and were timed to normal clinical assessments. An initial registration clinical report form (CRF) and subsequent ongoing assessment CRFs were submitted with a completion CRF at the time of death. DESIGN: Prospective observational cohort study...
September 30, 2016: BMJ Open
Sanjana Shellikeri, Jordan R Green, Madhura Kulkarni, Panying Rong, Rosemary Martino, Lorne Zinman, Yana Yunusova
Purpose: The goal of this study was to identify the effects of amyotrophic lateral sclerosis (ALS) on tongue and jaw control, both cross-sectionally and longitudinally. The data were examined in the context of their utility as a diagnostic marker of bulbar disease. Method: Tongue and jaw movements were recorded cross-sectionally (n = 33 individuals with ALS, 13 controls) and longitudinally (n = 10 individuals with ALS) using a three-dimensional electromagnetic articulography system during the production of the sentence Buy Bobby a puppy...
September 27, 2016: Journal of Speech, Language, and Hearing Research: JSLHR
Rosanne Govaarts, Emma Beeldman, Mike J Kampelmacher, Marie-Jose van Tol, Leonard H van den Berg, Anneke J van der Kooi, Peter J Wijkstra, Marianne Zijnen-Suyker, Nicolle A M Cobben, Ben A Schmand, Rob J de Haan, Marianne de Visser, Joost Raaphorst
Thirty percent of ALS patients have a frontotemporal syndrome (FS), defined as behavioral changes or cognitive impairment. Despite previous studies, there are no firm conclusions on the effect of the FS on survival and the use of non-invasive ventilation (NIV) in ALS. We examined the effect of the FS on survival and the start and duration of NIV in ALS. Behavioral changes were defined as >22 points on the ALS-Frontotemporal-Dementia-Questionnaire or ≥3 points on ≥2 items of the Neuropsychiatric Inventory...
September 26, 2016: Journal of Neurology
Vitaliano Nicola Quaranta, Pierluigi Carratù, Mario Francesco Damiani, Silvano Dragonieri, Alberto Capozzolo, Anna Cassano, Onofrio Resta
BACKGROUND/OBJECTIVE: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the progressive loss of central and peripheral motor neurons. Some studies have found discordant data in the presence of sleep apnea in ALS patients. An obstructive component also occurs with upper airways hypotonia and muscle weakness that may result in an excessive reduction of airway lumen, leading to obstructive sleep apnea (OSA). The aim of this study was to assess the role of obstructive apneic events at disease onset in the ALS prognosis...
September 6, 2016: Neuro-degenerative Diseases
Delin Ma, Jeffrey M Shuler, Aishwarya Kumar, Quincy R Stanford, Sudheer Tungtur, Hiroshi Nishimune, John A Stanford
Background The use of exercise in amyotrophic lateral sclerosis (ALS) is controversial. Although moderate exercise appears to be beneficial for limb muscles in ALS, the effects of exercise on bulbar muscles such as the tongue have not been studied. Objective To determine the effects of tongue force training on bulbar motor function in the SOD1-G93A rat model of ALS. Methods We compared the effects of tongue force training on bulbar motor function and neuromuscular junction innervation in female SOD1-G93A rats and age-matched female wild-type controls...
August 28, 2016: Neurorehabilitation and Neural Repair
S Schönecker, M Brendel, J van der Zee, C van Broeckhoven, A Rominger, A Danek, J Levin
We report on a pair of siblings with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) and a novel Thr462Lysfs mutation in the TANK-binding kinase 1 (TBK1) gene identified through the European Early-Onset Dementia Consortium. The patients presented at the age of 77 and 75 years and displayed dementia and bulbar symptoms as well as progressive paresis. After a progressive course, both of them died only a few months after diagnosis. Most recently, TBK1 mutations were identified in patients with FTD and ALS...
August 2016: Fortschritte der Neurologie-Psychiatrie
Bruno Fattori, Gabriele Siciliano, Valentina Mancini, Luca Bastiani, Paolo Bongioanni, Elena Caldarazzo Ienco, Maria R Barillari, Salvatore O Romeo, Andrea Nacci
OBJECTIVE: Our aim was to evaluate the relationship between the disease severity of Amyotrophic Lateral Sclerosis (ALS) and the following parameters of Fiberoptic Endoscopic Evaluation of Swallowing (FEES): premature spillage, post-swallowing residue and aspiration. METHODS: We studied 202 patients (95 women and 107 men) with ALS; of these, 136 had spinal and 66 had bulbar onset. They were analyzed according to the Amyotrophic Lateral Sclerosis Functioning Rating Scale (ALSFRS) and the b-ALSFRS subscale (bulbar scale)...
August 25, 2016: Auris, Nasus, Larynx
Hosein Shamshiri, Farzad Fatehi, Roya Abolfazli, Mohammad Hossein Harirchian, Behnaz Sedighi, Babak Zamani, Ali Roudbari, Nazanin Razazian, Fatemeh Khamseh, Shahriar Nafissi
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is an incurable progressive neurodegenerative disease and thus the assessment of quality of life (QOL) changes and factors that may influence its course is valuable in the meantime. OBJECTIVES: The present study aimed to assess the deterioration rate of QOL and influencing factors in different subgroups of Iranian ALS patients. METHODS: 132 patients were evaluated in this prospective multicenter observational study...
September 15, 2016: Journal of the Neurological Sciences
Courtney E McIlduff, Sung J Yim, Adam K Pacheck, Seward B Rutkove
INTRODUCTION: Electrical impedance myography (EIM) can quantify muscle health at a range of frequencies, including that most commonly employed: 50 kHz. However, disease-related changes in EIM data suggest the distinction between normal and patient EIM values could be more apparent at frequencies >50 kHz. We investigated at what other selected frequencies tongue EIM might differentiate healthy individuals and amyotrophic lateral sclerosis (ALS) patients, remain reliable, and correlate with a standard metric of bulbar function...
August 11, 2016: Muscle & Nerve
Hernando Rafael
To demonstrate that amyotrophic lateral sclerosis (ALS) is not a neurodegenerative disease. The patient, a 33-year-old man began with symptoms of the bulbar form of ALS, characterized by burning pain in both feet during two months and then, he presented right crural monoparesis, fasciculations, slight dysarthria and he walked with help of orthopedic devices. A preoperative MRI scans showed atherosclerosis at the V4 segment of the left vertebral artery. On May 2012, he received an omental transplantation on the anterior, left lateral and posterior surface of the medulla oblongata...
2016: American Journal of Neurodegenerative Disease
Mfon E Umoh, Christina Fournier, Yingjie Li, Meraida Polak, Latoya Shaw, John E Landers, William Hu, Marla Gearing, Jonathan D Glass
OBJECTIVE: We investigated whether the C9orf72 expansion mutation in patients with amyotrophic lateral sclerosis (ALS) is associated with unique demographic and clinical features. METHODS: Between 2001 and 2015, approximately half of all patients attending the Emory ALS Clinic agreed to donate DNA for research. This research cohort of 781 patients was screened for the C9orf72 expansion, and demographic and clinical data were compared between those with and without the C9orf72 mutation...
September 6, 2016: Neurology
Nirma D Perera, Rebecca K Sheean, Peter J Crouch, Anthony R White, Malcolm K Horne, Bradley J Turner
Defects in the RNA binding proteins survival motor neuron (SMN) and TAR DNA binding protein 43 (TDP-43) cause progressive motor neuron degeneration in spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS), respectively. While low levels of SMN protein in motor neurons result in SMA, recent studies implicate abnormal SMN levels and function in ALS pathogenesis. Here, we determine that SMN protein is upregulated early and progressively in spinal and cortical motor neurons of male transgenic mutant TDP-43(A315T) mice...
July 27, 2016: Human Molecular Genetics
Nimeshan Geevasinga, Parvathi Menon, Daniel B Scherman, Neil Simon, Con Yiannikas, Robert D Henderson, Matthew C Kiernan, Steve Vucic
OBJECTIVE: To assess the sensitivity and specificity of the Awaji and revised El Escorial diagnostic criteria (rEEC) in amyotrophic lateral sclerosis (ALS). METHODS: We conducted a large prospective multicenter study, recruiting 416 patients (253 male, 163 female) between January 1, 2012, and August 31, 2015, to compare the diagnostic accuracy of Awaji and rEEC in accordance with standards of reporting of diagnostic accuracy criteria. RESULTS: The sensitivity of the Awaji criteria (57%, 50...
August 16, 2016: Neurology
Siyuan Li, Yuting Ren, Wenjia Zhu, Fei Yang, Xiaolan Zhang, Xusheng Huang
BACKGROUND AND OBJECTIVE: Amyotrophic lateral sclerosis (ALS) is a fatal disease characterized by degeneration of both upper and lower motor neurons. In this study, we aimed to measure both plasma and cerebrospinal fluid (CSF) phosphorylated neurofilament heavy chain (pNF-H) levels in patients with ALS, and determine if there is a correlation. We also evaluated plasma and CSF pNF-H levels to investigate if this biomarker could predict the time to generalization (TTG) in ALS better. METHODS: Paired plasma and CSF pNF-H levels of patients with ALS (n=51), multiple system atrophy (n=12) and controls (n=30) were measured by monoclonal sandwich ELISA...
August 15, 2016: Journal of the Neurological Sciences
Jiwon Yang, Jin-Seok Park, Ki-Wook Oh, Seong-Il Oh, Hyeon-Mi Park, Seung Hyun Kim
OBJECTIVE: This study aimed to measure serum 25-hydroxyvitamin D [25(OH)D] concentrations, bone mineral density (BMD), and the parameters of bone metabolism in amyotrophic lateral sclerosis (ALS) patients, and their correlation with survival. METHODS: We retrospectively analysed data of 100 ALS patients who consecutively visited a single referral ALS clinic between January and December 2011. Sex; age and site of symptom onset; and death were recorded. Serum 25(OH)D concentration was dichotomized as <10ng/ml and ≥10ng/ml...
August 15, 2016: Journal of the Neurological Sciences
Kazumoto Shibuya, Susanna B Park, Nimeshan Geevasinga, Parvathi Menon, James Howells, Neil G Simon, William Huynh, Yu-Ichi Noto, Jürgen Götz, Jillian J Kril, Lars M Ittner, John Hodges, Glenda Halliday, Steve Vucic, Matthew C Kiernan
OBJECTIVE: To study the relationship between cortical function and survival in amyotrophic lateral sclerosis (ALS). METHODS: A total of 216 referrals were screened, and participants with familial ALS or an inexcitable cortex were excluded. Clinical measures and phenotyping from 169 patients with sporadic ALS were combined with an assessment of cortical function using threshold tracking transcranial magnetic stimulation with indices including short interval intracortical inhibition (SICI)...
August 2, 2016: Neurology
Emma Yates, Muhammad K Rafiq
Information regarding factors influencing prognosis and quality of life (QoL) in patients with amyotrophic lateral sclerosis (ALS) is useful for clinicians and also for patients and their carers. The aims of this study are to identify prognostic factors for survival in ALS and to determine the physical factors influencing QoL. This study is a retrospective analysis of a cohort of 512 patients who participated in a phase II/III clinical trial of olesoxime. Cox multivariate regression analysis found older age, bulbar onset disease, low baseline forced vital capacity, low baseline manual muscle test (MMT) scores and a shorter diagnostic delay to be independently associated with poor survival outcome...
October 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Carlo Scialò, Giovanni Novi, Monica Bandettini di Poggio, Antonio Canosa, Maria Pia Sormani, Paola Mandich, Paola Origone, Romina Truffelli, Giovanni Luigi Mancardi, Claudia Caponnetto
Our objectives were: (1) to assess amyotrophic lateral sclerosis (ALS) incidence and its trend over time in Liguria, an Italian north-western region, performing an analysis of data prospectively collected from 1 January 2009 to 31 December 2014; (2) to determine the mean and median survival in the 2009-2014 Ligurian ALS incident cases; and (3) to evaluate the presence of disease prognostic factors. The Liguria Register for ALS (LIGALS) is an ongoing, multicentre prospective register enrolling all ALS incident cases in Liguria...
July 11, 2016: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Yasuhiro Hijikata, Masahisa Katsuno, Keisuke Suzuki, Atsushi Hashizume, Amane Araki, Shinichiro Yamada, Tomonori Inagaki, Madoka Iida, Seiya Noda, Hirotaka Nakanishi, Haruhiko Banno, Tomoo Mano, Akihiro Hirakawa, Hiroaki Adachi, Hirohisa Watanabe, Masahiko Yamamoto, Gen Sobue
OBJECTIVE: The aim of this study was to explore the pathomechanism underlying the reduction of serum creatinine (Cr) concentrations in spinal and bulbar muscular atrophy (SBMA). METHODS: We evaluated blood chemistries, motor function, and muscle mass measured by dual-energy X-ray absorptiometry in male subjects with SBMA (n = 65), amyotrophic lateral sclerosis (ALS; n = 27), and healthy controls (n = 25). We also examined the intramuscular concentrations of creatine, a precursor of Cr, as well as the protein and mRNA expression levels of the creatine transporter (SLC6A8) in autopsy specimens derived from subjects who had SBMA and ALS and disease controls...
July 2016: Annals of Clinical and Translational Neurology
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