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bulbar ALS

José M Vidal-Taboada, Marco Pugliese, Maria Salvadó, Josep Gámez, Nicole Mahy, Manuel J Rodríguez
The ATP-sensitive potassium (KATP ) channel directly regulates the microglia-mediated inflammatory response following CNS injury. To determine the putative role of the KATP channel in amyotrophic lateral sclerosis (ALS) pathology, we investigated whether ALS induces changes in KATP channel expression in the spinal cord and motor cortex. We also characterized new functional variants of human ABCC8, ABCC9, KCNJ8, and KCNJ11 genes encoding for the KATP channel and analyzed their association with ALS risk, rate of progression, and survival in a Spanish ALS cohort...
February 28, 2018: Molecular Neurobiology
Koji Abe
The present review focuses an early history of Japanese amyotrophic lateral sclerosis (ALS)-related diseases and the current development. In relation to foreign previous reports, five topics are introduced and discussed on ALS with dementia, ALS/Parkinsonism dementia complex (ALS/PDC), familial ALS (FALS), spinal bulbar muscular atrophy (SBMA), and multisystem involvement especially in cerebellar system of ALS including ALS/SCA (spinocerebellar ataxia) crossroad mutation Asidan. This review found the great contribution of Japanese reports on the above five topics, and confirmed the great development of ALS-related diseases over the past 120 years...
February 28, 2018: Rinshō Shinkeigaku, Clinical Neurology
Maria Pia Giannoccaro, Anna Bartoletti-Stella, Silvia Piras, Alfonsina Casalena, Federico Oppi, Giovanni Ambrosetto, Pasquale Montagna, Rocco Liguori, Piero Parchi, Sabina Capellari
BACKGROUND: In 1969, Dazzi and Finizio reported the second observation of frontotemporal dementia (FTD) - amyotrophic lateral sclerosis (ALS) association in a large Italian kindred affected by an autosomal dominant form of ALS with high penetrance, frequent bulbar onset, and frequent cognitive decline. OBJECTIVE: To expand the original characterization of this family and report the link with the C9orf72 repeat expansion (RE). METHODS: We followed or reviewed the medical records of thirteen patients belonging to the original family and performed genetic analyses in four individuals...
2018: Journal of Alzheimer's Disease: JAD
Valentin Schellhas, Christian Glatz, Ingo Beecken, Angelika Okegwo, Anna Heidbreder, Peter Young, Matthias Boentert
BACKGROUND: On initiation of long-term non-invasive ventilation (NIV), intermittent upper airway obstruction has rarely been described as possibly treatment-induced. Inspiratory pressure effects and the use of an oronasal interface may promote obstructive events in some patients with neuromuscular disease (NMD) and amyotrophic lateral sclerosis (ALS) in particular. METHODS: We evaluated clinical data from 212 patients in whom NIV was initiated using an oronasal mask...
February 17, 2018: Sleep & Breathing, Schlaf & Atmung
Ceren Tunca, Fulya Akçimen, Cemre Coşkun, Aslı Gündoğdu-Eken, Cemile Kocoglu, Betül Çevik, Can Ebru Bekircan-Kurt, Ersin Tan, A Nazlı Başak
Amyotrophic lateral sclerosis (ALS) is a late-onset motor neuron disease with mostly dominant inheritance and a life expectancy of 2-5 years; however, a quite common occurrence of atypical forms of the disease, due to recessive inheritance, has become evident with the use of NGS technologies. In this paper, we describe a family with close consanguinity for at least four generations, suffering from a slowly progressive form of ALS. Spastic walking is observed since teenage years, while bulbar symptoms start much later, at the fifth or sixth decade of life...
February 16, 2018: European Journal of Human Genetics: EJHG
Angela Rosenbohm, Mingsheng Liu, Gabriele Nagel, Raphael S Peter, Bo Cui, Xiaoguang Li, Jan Kassubek, Dietrich Rothenbacher, Dorothée Lulé, Liying Cui, Albert C Ludolph
OBJECTIVE: The aim of this study is to explore phenotypical differences of amyotrophic lateral sclerosis (ALS) between two cohorts from Germany and China. METHODS: Registry-based studies of ALS were conducted in South-West Germany from 2010 to 2014 and an ALS clinic in Beijing from 2013 to 2016, respectively. Demographic and clinical features of 663 German and 276 Chinese ALS patients were collected and compared. RESULTS: Mean age-at-onset was higher in German than in Chinese ALS patients [66...
February 1, 2018: Journal of Neurology
Mi Ri Suh, Won Ah Choi, Young-Chul Choi, Jang Woo Lee, Jung Hwa Hong, Jihyun Park, Seong-Woong Kang
Objective: To report the latest long-term outcome of amyotrophic lateral sclerosis (ALS) and to analyze the predictors of prognosis. Methods: Subjects who were diagnosed with ALS between January 2005 and December 2009 at a single institute were followed up until death or up to December 2014. Data regarding age, sex, date of onset, date of diagnosis, presence of bulbar symptoms on onset, date of initiation of non-invasive ventilation (NIV), and the date of tracheostomy were collected...
December 2017: Annals of Rehabilitation Medicine
Mona Ahmadi, Elmira Agah, Shahriar Nafissi, Mahmoud Reza Jaafari, Mohammad Hossein Harirchian, Payam Sarraf, Sara Faghihi-Kashani, Seyed Jalal Hosseini, Abdolreza Ghoreishi, Vajiheh Aghamollaii, Mostafa Hosseini, Abbas Tafakhori
The objective of present study was to assess the safety and efficacy of nanocurcumin as an anti-inflammatory and antioxidant agent in adults with amyotrophic lateral sclerosis (ALS). We conducted a 12-month, double-blind, randomized, placebo-controlled trial at a neurological referral center in Iran. Eligible patients with a definite or probable ALS diagnosis were randomly assigned to receive either nanocurcumin (80 mg daily) or placebo in a 1:1 ratio. A computerized random number generator was used to prepare the randomization list...
January 19, 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
Daniela Rossi, Paolo Volanti, Liliana Brambilla, Tiziana Colletti, Rossella Spataro, Vincenzo La Bella
Elevated cerebrospinal fluid (CSF), Neurofilament Light (NF-L) and phosphorylated Heavy (pNF-H) chain levels have been found in Amyotrophic Lateral Sclerosis (ALS), with studies reporting a correlation of both neurofilaments (NFs) with the disease progression. Here, we measured NF-L and pNF-H concentrations in the CSF of ALS patients from a single tertiary Center and investigated their relationship with disease-related variables. A total of 190 ALS patients (Bulbar, 29.9%; Spinal, 70.1%; M/F = 1.53) and 130 controls with mixed neurological diseases were recruited...
January 10, 2018: Journal of Neurology
Ramnath Santosh Ramanathan, Sandeep Rana
AIM: Primary lateral sclerosis (PLS) is a form of motor neuron disease involving only upper motor neurons. In some patients presenting as PLS, the disease progresses to involve lower motor neurons and thereby converting to amyotrophic lateral sclerosis (ALS). However, pure forms of PLS do exist. Our aim was to study epidemiological and clinical characteristics of pure PLS patients treated at our neuromuscular clinic. METHODS: We retrospectively reviewed 15 patients from July 2011 to October 2014 with PLS treated at the neuromuscular disorder clinic at our hospital...
January 10, 2018: Neurodegenerative Disease Management
Mi Ri Suh, Won Ah Choi, Dong Hyun Kim, Jang Woo Lee, Eun Young Kim, Seong-Woong Kang
INTRODUCTION: The purpose of this study was to investigate the 5-year outcomes of noninvasive ventilation (NIV) application in different neuromuscular disease (NMD) groups. METHODS: We categorized 180 subjects who had initiated NIV between March 2001 and August 2009 into 4 groups and followed them for > 5 y. The NIV maintenance rate and average duration, applying time, and forced vital capacity (FVC) were investigated at the time NIV was initiated and 5 y after NIV initiation in each group...
January 3, 2018: Respiratory Care
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
Nina Riera-Punet, Jordi Martinez-Gomis, Andrés Paipa, Monica Povedano, Maria Peraire
AIMS: To determine the effect of amyotrophic lateral sclerosis (ALS) on aspects of masticatory function and to assess the relationship between ALS and the prevalence of traumatic mucosal lesions caused by oral self-injury. METHODS: A total of 153 ALS patients and 23 control subjects participated in this cross-sectional study. Clinical characteristics including site of onset, medication, type of feeding, and use of noninvasive mechanical ventilation were recorded...
December 15, 2017: Journal of Oral & Facial Pain and Headache
Nina Riera-Punet, Jordi Martinez-Gomis, Eva Willaert, Monica Povedano, Maria Peraire
Amyotrophic lateral sclerosis (ALS) with bulbar dysfunction affects the motor neurons responsible for controlling the muscles in the jaw, face, soft palate, pharynx, larynx, and tongue. This cross-sectional study aimed to determine the functional limitation of the jaw in patients with ALS and bulbar dysfunction who had upper motor neurons (UMN), lower motor neurons (LMN) or balanced involvement. One hundred and fifty three patients with ALS and 23 controls were included. All participants answered using the eight-item Jaw Functional Limitation Scale (JFLS-8)...
December 14, 2017: Journal of Oral Rehabilitation
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
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
Mark B Bromberg
This edition of "What is in the Literature?" will focus on motor neuron disease (MND), including adult forms [amyotrophic lateral sclerosis (ALS), progressive muscular atrophy (PMA), primary lateral sclerosis (PLS), progressive bulbar palsy (PBA), and monomelic mononeuropathy (MMND)], and childhood forms [spinal muscle atrophy (SMA)].
December 2017: Journal of Clinical Neuromuscular Disease
Jinsy A Andrews, Lisa Meng, Sarah F Kulke, Stacy A Rudnicki, Andrew A Wolff, Michael E Bozik, Fady I Malik, Jeremy M Shefner
Importance: The prognostic value of slow vital capacity (SVC) in relation to respiratory function decline and disease progression in patients with amyotrophic lateral sclerosis (ALS) is not well understood. Objective: To investigate the rate of decline in percentage predicted SVC and its association with respiratory-related clinical events and mortality in patients with ALS. Design, Setting, and Participants: This retrospective study included 893 placebo-treated patients from 2 large clinical trials (EMPOWER and BENEFIT-ALS, conducted from March 28, 2011, to November 1, 2012, and from October 23, 2012, to March 21, 2014, respectively) and an ALS trial database (PRO-ACT, containing studies completed between 1990 and 2010) to investigate the rate of decline in SVC...
January 1, 2018: JAMA Neurology
Yusuke Fukui, Nozomi Hishikawa, Kota Sato, Yumiko Nakano, Ryuta Morihara, Jingwei Shang, Mami Takemoto, Yasuyuki Ohta, Toru Yamashita, Koji Abe
The objective of this study was to determine alteration of corticospinal tract in patients with amyotrophic lateral sclerosis (ALS) using diffusion tensor tractograhy (DTT) focusing on the cervical spinal cord (C5) and transcranial magnetic stimulation (TMS). We recruited 38 ALS, 6 spinal and bulbar muscular atrophy (SBMA), 7 spastic paraplegia (SP) patients, and 8 age-matched normal controls, and then ALS were divided into two subgroups according to their clinical type: 28 ALS-limb and 10 ALS-bulbar. DTT was performed using the diffusion tensor image (DTI) track module to reconstruct two fiber tracts via C5...
November 22, 2017: Neuroscience Research
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