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https://www.readbyqxmd.com/read/28095425/relationship-between-clinical-parameters-and-brain-structure-in-sporadic-amyotrophic-lateral-sclerosis-patients-according-to-onset-type-a-voxel-based-morphometric-study
#1
Hee-Jin Kim, Mony de Leon, Xiuyuan Wang, Hyun Young Kim, Young-Jun Lee, Yeon-Ha Kim, Seung Hyun Kim
BACKGROUND AND PURPOSE: Amyotrophic lateral sclerosis (ALS) is a rapidly progressing, phenotypically heterogeneous neurodegenerative disease affecting mainly the motor neuron system. The present voxel-based morphometry (VBM) study investigated whether patterns of brain atrophy differ among sporadic ALS subtypes. MATERIAL AND METHODS: Sporadic ALS patients (n = 62) with normal cognition and age-matched healthy controls (n = 57) were included in the study. ALS patients were divided into limb- and bulbar-onset groups according to clinical manifestations at symptom onset (n = 48 and 14, respectively)...
2017: PloS One
https://www.readbyqxmd.com/read/28093778/brainstem-reflex-excitability-changes-in-patients-with-als
#2
Bülent Cengiz, Merve Bahar Ercan, Mustafa İskender, Hidayet Reha Kuruoğlu
Objective We explored brainstem reflex excitability changes, blink reflex recovery cycles (BRRC), and masseter inhibitory reflexes (MIR) in patients with ALS. Methods Fourteen ALS patients and 14 healthy control subjects were recruited. The BRRC was examined at interstimulus intervals (ISI) of 100, 200, 300, 400, 500, and 600 ms. The latencies and durations of silent period 1 (SP1) and silent period 2 (SP2) of the MIR were measured. Results Decreased R2 area suppression was prominent in the ALS group at ISIs of 200, 300, and 400 ms (P<0...
January 17, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28087734/increased-mitophagy-in-the-skeletal-muscle-of-spinal-and-bulbar-muscular-atrophy-patients
#3
Doriana Borgia, Adriana Malena, Marco Spinazzi, Maria Andrea Desbats, Leonardo Salviati, Aaron P Russell, Giovanni Miotto, Laura Tosatto, Elena Pegoraro, Gianni Sorarù, Maria Pennuto, Lodovica Vergani
Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disorder caused by polyglutamine expansion in the androgen receptor (AR) and characterized by the loss of lower motor neurons. Here we investigated pathological processes occurring in muscle biopsy specimens derived from SBMA patients and, as controls, age-matched healthy subjects and patients suffering from amyotrophic lateral sclerosis (ALS) and neurogenic atrophy. We detected atrophic fibers in the muscle of SBMA, ALS and neurogenic atrophy patients...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28079403/orofacial-function-and-monitoring-of-oral-care-in-amyotrophic-lateral-sclerosis
#4
Birgitta Bergendal, Anita McAllister
OBJECTIVE: The aim was to assess orofacial function and monitor oral care in patients with amyotrophic lateral sclerosis (ALS) to maintain oral comfort and oral health. MATERIALS AND METHODS: A case series of 14 patients newly diagnosed with ALS accepted to participate in a quality improvement project. After initial examinations, baseline oral conditions were obtained and the patients were seen every 3 months. Nordic Orofacial Test-Screening (NOT-S) was used for evaluation of orofacial function...
January 12, 2017: Acta Odontologica Scandinavica
https://www.readbyqxmd.com/read/28072907/symptomatic-treatments-for-amyotrophic-lateral-sclerosis-motor-neuron-disease
#5
REVIEW
Louisa Ng, Fary Khan, Carolyn A Young, Mary Galea
BACKGROUND: Motor neuron disease (MND), which is also known as amyotrophic lateral sclerosis (ALS), causes a wide range of symptoms but the evidence base for the effectiveness of the symptomatic treatment therapies is limited. OBJECTIVES: To summarise the evidence from Cochrane Systematic Reviews of all symptomatic treatments for MND. METHODS: We searched the Cochrane Database of Systematic Reviews (CDSR) on 15 November 2016 for systematic reviews of symptomatic treatments for MND...
January 10, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28070747/enhanced-bulbar-function-in-amyotrophic-lateral-sclerosis-the-nuedexta-treatment-trial
#6
Richard Smith, Erik Pioro, Kathleen Myers, Michael Sirdofsky, Kimberly Goslin, Gregg Meekins, Hong Yu, James Wymer, Merit Cudkowicz, Eric A Macklin, David Schoenfeld, Gary Pattee
The goal of this randomized, blinded, crossover clinical trial was to determine whether Nuedexta (dextromethorphan and quinidine) enhanced speech, swallowing, and salivation in patients with ALS. Sixty patients with amyotrophic lateral sclerosis (ALS) received either Nuedexta or placebo for 28 to 30 days, followed by a 10 to 15-day washout period. Subsequently, patients were switched to the opposite treatment arm for the remaining days of the trial. The primary endpoint was a reduction in the self-report Center for Neurologic Study Bulbar Function Scale (CNS-BFS) score...
January 9, 2017: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/28054830/a-novel-mutation-of-the-c-terminal-amino-acid-of-fus-y526c-strengthens-fus-gene-as-the-most-frequent-genetic-factor-in-aggressive-juvenile-als
#7
Philippe Corcia, Veronique Danel, Arnaud Lacour, Stephane Beltran, Christian Andres, Philippe Couratier, Helene Blasco, Patrick Vourc'h
Although amyotrophic lateral sclerosis (ALS) typically occurs around 60 years, numerous publications report an onset of ALS before the age of 25 years that define juvenile ALS (jALS). Over the last decade, growing literature mentioned jALS with an aggressive evolution which are mainly linked to the FUS gene. We report here the case of a 25-year-old woman with a bulbar onset ALS that progressed in less than 12 months to invasive ventilation due to respiratory failure; Genetic screening identified a new mutation in the FUS gene that lies within the last codon...
January 5, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28039894/exome-sequencing-establishes-a-gelsolin-mutation-as-the-cause-of-inherited-bulbar-onset-neuropathy
#8
James B Caress, Janel O Johnson, Yevgeniya A Abramzon, Gregory A Hawkins, J Raphael Gibbs, Elizabeth A Sullivan, Chamanpreet S Chahal, Bryan J Traynor
INTRODUCTION: Progressive bulbar motor neuropathy is primarily caused by bulbar-onset ALS. Hereditary amyloidosis type IV also presents with a bulbar neuropathy that mimicks motor neuron disease. The disease is prevalent in Finland only and is not commonly included in the differential diagnosis of ALS. METHODS: We studied 18 members of a family in which some had bulbar motor neuropathy, and we performed exome sequencing. RESULTS: Five affected family members were found to have a D187Y substitution in the GSN gene known to cause hereditary amyloidosis type IV...
December 31, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/28035716/integrated-molecular-landscape-of-amyotrophic-lateral-sclerosis-provides-insights-into-disease-etiology
#9
C J H M Klemann, J E Visser, L Van Den Bosch, G J M Martens, G Poelmans
Amyotrophic lateral sclerosis (ALS) is a severe, progressive and ultimately fatal motor neuron disease caused by a combination of genetic and environmental factors, but its underlying mechanisms are largely unknown. In order to gain insight into the etiology of ALS, we here conducted genetic network and literature analyses of the top-ranked findings from six genome-wide association studies of sporadic ALS (involving 3589 cases and 8577 controls) as well as genes implicated in ALS etiology through other evidence, including familial ALS candidate gene association studies...
December 30, 2016: Brain Pathology
https://www.readbyqxmd.com/read/28032330/cerebrospinal-fluid-cytotoxicity-does-not-affect-survival-in-amyotrophic-lateral-sclerosis
#10
L Galán, J Matías-Guiu, J A Matias-Guiu, M Yáñez, V Pytel, A Guerrero-Sola, A Vela-Souto, J A Arranz-Tagarro, U Gómez-Pinedo, A G García
OBJECTIVES: Cerebrospinal fluid (CSF) from some patients with amyotrophic lateral sclerosis (ALS) has been demonstrated to significantly reduce the neuronal viability of primary cell cultures of motor neurons. We aimed to study the potential clinical consequences associated with the cytotoxicity of CSF in a cohort of patients with ALS. METHODS: We collected CSF from thirty-one patients with ALS. We analysed cytotoxicity by incubating it into the primary cultures of motor cortex neurons...
December 29, 2016: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28018269/theory-of-mind-and-its-neuropsychological-and-quality-of-life-correlates-in-the-early-stages-of-amyotrophic-lateral-sclerosis
#11
Francesca Trojsi, Mattia Siciliano, Antonio Russo, Carla Passaniti, Cinzia Femiano, Teresa Ferrantino, Stefania De Liguoro, Luigi Lavorgna, Maria R Monsurrò, Gioacchino Tedeschi, Gabriella Santangelo
This study aims to explore the potential impairment of Theory of Mind (ToM; i.e., the ability to represent cognitive and affective mental states to both self and others) and the clinical, neuropsychological and Quality of Life (QoL) correlates of these cognitive abnormalities in the early stages of amyotrophic lateral sclerosis (ALS), a multisystem neurodegenerative disease recently recognized as a part of the same clinical and pathological spectrum of frontotemporal lobar degeneration. Twenty-two consecutive, cognitively intact ALS patients, and 15 healthy controls, underwent assessment of executive, verbal comprehension, visuospatial, behavioral, and QoL measures, as well as of the ToM abilities by Emotion Attribution Task (EAT), Advanced Test of ToM (ATT), and Eyes Task (ET)...
2016: Frontiers in Psychology
https://www.readbyqxmd.com/read/28005993/decreased-peak-expiratory-flow-associated-with-muscle-fiber-type-switching-in-spinal-and-bulbar-muscular-atrophy
#12
Shinichiro Yamada, Atsushi Hashizume, Yasuhiro Hijikata, Tomonori Inagaki, Keisuke Suzuki, Naohide Kondo, Kaori Kawai, Seiya Noda, Hirotaka Nakanishi, Haruhiko Banno, Akihiro Hirakawa, Haruki Koike, Katherine Halievski, Cynthia L Jordan, Masahisa Katsuno, Gen Sobue
The aim of this study was to characterize the respiratory function profile of subjects with spinal and bulbar muscular atrophy (SBMA), and to explore the underlying pathological mechanism by comparing the clinical and biochemical indices of this disease with those of amyotrophic lateral sclerosis (ALS). We enrolled male subjects with SBMA (n = 40) and ALS (n = 25) along with 15 healthy control subjects, and assessed their respiratory function, motor function, and muscle strength. Predicted values of peak expiratory flow (%PEF) and forced vital capacity were decreased in subjects with SBMA compared with controls...
2016: PloS One
https://www.readbyqxmd.com/read/28000348/no-association-between-borrelia-burgdorferi-antibodies-and-amyotrophic-lateral-sclerosis-in-a-case-control-study
#13
A E Visser, F M Verduyn Lunel, J H Veldink, L H van den Berg
BACKGROUND AND PURPOSE: Previous studies, mostly case reports and uncontrolled studies, provide a low level of evidence for the hypothesized link between Lyme disease and amyotrophic lateral sclerosis (ALS). In order to make evidence-based recommendations regarding testing for Borrelia burgdorferi antibodies in the diagnostic work-up for ALS, the objective of this study was to explore the evidence for an association between these antibodies and ALS in a case-control design including age-, gender- and residency-matched controls...
January 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/27965622/laryngeal-sensitivity-in-patients-with-amyotrophic-lateral-sclerosis
#14
Giovanni Ruoppolo, Emanuela Onesti, Maria Cristina Gori, Ilenia Schettino, Vittorio Frasca, Antonella Biasiotta, Carla Giordano, Marco Ceccanti, Chiara Cambieri, Antonio Greco, Costantino Eugenio Buonopane, Giorgio Cruccu, Marco De Vincentiis, Maurizio Inghilleri
Recent studies have shown the involvement of the sensory nervous system in patients with amyotrophic lateral sclerosis (ALS). The aim of our study was to investigate the correlation between the laryngeal sensitivity deficit and the type of ALS onset (bulbar or spinal) in a large series of 114 consecutive ALS patients. Participants were subdivided into two groups, bulbar and spinal ALS, according to the clinical onset of disease and submitted to a clinical and instrumental evaluation of swallowing, including a fiber-optic endoscopic evaluation of swallowing with sensory testing...
2016: Frontiers in Neurology
https://www.readbyqxmd.com/read/27915482/correlation-between-forced-vital-capacity-and-slow-vital-capacity-for-the-assessment-of-respiratory-involvement-in-amyotrophic-lateral-sclerosis-a-prospective-study
#15
Susana Pinto, Mamede de Carvalho
INTRODUCTION: Slow vital capacity (SVC) and forced vital capacity (FVC) are the most frequent used tests evaluating respiratory function in amyotrophic lateral sclerosis (ALS). No previous study has determined their interchangeability. OBJECTIVE: To evaluate SVC-FVC correlation in ALS. METHODS: Consecutive definite/probable ALS and primary lateral sclerosis (PLS) patients (2000-2014) in whom respiratory tests were performed at baseline/4-6months later were included...
December 4, 2016: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/27913903/amyotrophic-lateral-sclerosis-and-myasthenia-gravis-association-or-chance-occurrence
#16
Silvia de Pasqua, Francesco Cavallieri, Roberto D'Angelo, Fabrizio Salvi, Nicola Fini, Roberto D'Alessandro, Rita Rinaldi, Antonio Fasano, Jessica Mandrioli
Very few cases of patients with myasthenia gravis (MG) who later developed amyotrophic lateral sclerosis (ALS) have been described, although some studies showed that significantly more cases than expected have ALS associated with a prior diagnosis of autoimmune diseases. Our aim was to investigate whether the association of ALS and MG was higher than expected in a population-based study and to describe the clinical features characterizing these patients. In Emilia Romagna Region of Italy, a prospective registry has been collecting all incident ALS cases since 1...
December 2, 2016: Neurological Sciences
https://www.readbyqxmd.com/read/27900991/increased-expressions-of-plasma-galectin-3-in-patients-with-amyotrophic-lateral-sclerosis
#17
Jun Yan, Yun Xu, Li Zhang, Hui Zhao, Ling Jin, Wei-Guo Liu, Lei-Hua Weng, Zuo-Han Li, Ling Chen
BACKGROUND: High expressions of galectin-3 were identified recently in the end stage of amyotrophic lateral sclerosis (ALS) patients, which suggested that immune reactivity and inflammatory mechanisms might play an important role in the pathogenesis of ALS. The purpose of this study was to investigate plasma galectin-3 levels in different groups and stages of ALS patients and the association with related clinical characteristics. METHODS: A total of 51 patients with ALS and 60 normal controls (NCs) were recruited in this study...
2016: Chinese Medical Journal
https://www.readbyqxmd.com/read/27892698/the-relationship-between-oestrogen-and-executive-functioning-in-als-females-with-emerging-frontotemporal-lobar-degeneration-ftld-supports-a-neuroendocrine-model-of-ftld-attenuation
#18
C Flaherty, J Kraft, A Brothers, M Harrison, R S Legro, A Manni, C Yang, Z Simmons
OBJECTIVE: The prevalence of ALS cognitive or behavioural impairment (ci or bi) consistent with Frontotemporal Degeneration (FTLD) approachs 50%, while ∼5-10% progress to dementia. Our goal was to explore ci and bi differencs between bulbar and limb onset, as well as the neuroprotective potential of oestrogen in emerging FTLD. METHODS: We applied Mann Whitney U to evaluate differences in cognitive and behavioural profiles between site of onset in 78 female and 83 male non-demented ALS participants classified by current consensus criteria with ci...
November 28, 2016: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/27888187/what-does-the-alsfrs-r-really-measure-a-longitudinal-and-survival-analysis-of-functional-dimension-subscores-in-amyotrophic-lateral-sclerosis
#19
James Rooney, Tom Burke, Alice Vajda, Mark Heverin, Orla Hardiman
INTRODUCTION: ALS functional rating scale (revised) (ALSFRS-R) is the most widely used functional rating system in patients with amyotrophic lateral sclerosis (ALS). However, heterogeneity in ALSFRS-R progression renders analysis challenging. We have explored the characteristics of total ALSFRS-R, and ALSFRS-R subscores in longitudinal and survival models, to determine whether subscore analysis enhances the precision of the instrument. METHODS: All cases with ALSFRS-R scores on the Irish ALS register were included...
November 25, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/27778156/factors-predicting-survival-in-als-a-multicenter-italian-study
#20
Andrea Calvo, Cristina Moglia, Christian Lunetta, Kalliopi Marinou, Nicola Ticozzi, Gianluca Drago Ferrante, Carlo Scialo, Gianni Sorarù, Francesca Trojsi, Amelia Conte, Yuri M Falzone, Rosanna Tortelli, Massimo Russo, Adriano Chiò, Valeria Ada Sansone, Gabriele Mora, Vincenzo Silani, Paolo Volanti, Claudia Caponnetto, Giorgia Querin, Maria Rosaria Monsurrò, Mario Sabatelli, Nilo Riva, Giancarlo Logroscino, Sonia Messina, Nicola Fini, Jessica Mandrioli
The aim of this multicenter, retrospective study is to investigate the role of clinical characteristics and therapeutic intervention on ALS prognosis. The study included patients diagnosed from January 1, 2009 to December 31, 2013 in 13 Italian referral centers for ALS located in 10 Italian regions. Caring neurologists collected a detailed phenotypic profile and follow-up data until death into an electronic database. One center collected also data from a population-based registry for ALS. 2648 incident cases were collected...
October 24, 2016: Journal of Neurology
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