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https://www.readbyqxmd.com/read/28335033/lingual-alveolar-contact-pressure-during-speech-in-amyotrophic-lateral-sclerosis-preliminary-findings
#1
Jeff Searl, Stephanie Knollhoff, Richard J Barohn
Purpose: This preliminary study on lingual-alveolar contact pressures (LACP) in people with amyotrophic lateral sclerosis (ALS) had several aims: (a) to evaluate whether the protocol induced fatigue, (b) to compare LACP during speech (LACP-Sp) and during maximum isometric pressing (LACP-Max) in people with ALS (PALS) versus healthy controls, (c) to compare the percentage of LACP-Max utilized during speech (%Max) for PALS versus controls, and (d) to evaluate relationships between LACP-Sp and LACP-Max with word intelligibility...
March 23, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28320151/takotsubo-cardiomyopathy-in-amyotrophic-lateral-sclerosis
#2
Seok-Jin Choi, Yoon-Ho Hong, Je-Young Shin, Byung-Nam Yoon, Sung-Yeon Sohn, Chan Soon Park, Jung-Joon Sung
OBJECTIVE: To investigate the frequency, features, and prognosis of takotsubo cardiomyopathy (TTC) in patients with amyotrophic lateral sclerosis (ALS). METHODS: We reviewed detailed clinical, laboratory, and cardiovascular data from 64 ALS patients (38 men and 26 women) who underwent echocardiographic evaluation for various reasons at a single referral center between January 2011 and December 2015. RESULTS: TTC was diagnosed in 9 ALS patients (4 men and 5 women)...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28281365/seasons-and-als-time-of-death
#3
Susana Pinto, Mamede De Carvalho
INTRODUCTION: Respiratory complications are the main cause of death in amyotrophic lateral sclerosis (ALS). Season-associated-death risk was not addressed before. OBJECTIVE: To assess month/season-associated death risk in ALS. METHODS: We included all patients followed in our unit who died before 1 January 2016, excluding those with uncertain information. A χ(2) test assessed differences between months/seasons. A two-step cluster analysis explored the significant survival independent factors...
March 10, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28280986/caregivers-of-patients-with-amyotrophic-lateral-sclerosis-investigating-quality-of-life-caregiver-burden-service-engagement-and-patient-survival
#4
Tom Burke, Miriam Galvin, Marta Pinto-Grau, Katie Lonergan, Caoifa Madden, Iain Mays, Sile Carney, Orla Hardiman, Niall Pender
Few studies in amyotrophic lateral sclerosis (ALS) have profiled disease-specific features of the condition in conjunction with assessment of caregivers' burden, distress, quality of life, and investigated patient survival. Eighty-four ALS patients and their primary caregivers were enrolled. Patients completed ALS-specific measures of physical and cognitive function, while caregivers completed measures of anxiety, depression, caregiver burden, and quality of life. Patient-caregiver dyads were interviewed about their health-service utilisation...
March 9, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28264096/diagnostic-and-prognostic-biomarkers-in-amyotrophic-lateral-sclerosis-neurofilament-light-chain-levels-in-definite-subtypes-of-disease
#5
Alessandra Gaiani, Ilaria Martinelli, Luca Bello, Giorgia Querin, Marco Puthenparampil, Susanna Ruggero, Elisabetta Toffanin, Annachiara Cagnin, Chiara Briani, Elena Pegoraro, Gianni Sorarù
Importance: A clearer definition of the role of neurofilament light chain (NFL) as a biomarker in amyotrophic lateral sclerosis (ALS) is needed. Objectives: To assess the ability of NFL to serve as a diagnostic biomarker in ALS and the prognostic value of cerebrospinal fluid NFL in patients with ALS. Design, Setting, and Participants: In this single-center, retrospective, longitudinal study, disease progression was assessed by the ALS Functional Rating Score-Revised and the ALS Milano-Torino Staging system at baseline and 6, 12, 24, and 36 months...
March 6, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28242130/kennedy-s-disease-1234-scale-preliminary-design-and-test
#6
Ming Lu, Haixiao Guo, Dongsheng Fan
Kennedy's disease (KD), also known as spinal and bulbar muscular atrophy (SBMA), is a rare x-linked genetic disorder which is characterized by muscle weakness and atrophy. In previous clinical trials, KD patients had been assessed using the ALSFRS scale, which was specifically designed for ALS patients. However, the progression of KD is very slow, and thus, the ALSFRS does not accurately reflect changes in the clinical condition of KD patient. Here, we developed the KD 1234 scale which designed specially for KD...
February 24, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28228570/urinary-p75-ecd-a-prognostic-disease-progression-and-pharmacodynamic-biomarker-in-als
#7
Stephanie R Shepheard, Joanne Wuu, Michell Cardoso, Luke Wiklendt, Phil G Dinning, Tim Chataway, David Schultz, Michael Benatar, Mary-Louise Rogers
OBJECTIVE: To evaluate urinary neurotrophin receptor p75 extracellular domain (p75(ECD)) levels as disease progression and prognostic biomarkers in amyotrophic lateral sclerosis (ALS). METHODS: The population in this study comprised 45 healthy controls and 54 people with ALS, 31 of whom were sampled longitudinally. Urinary p75(ECD) was measured using an enzyme-linked immunoassay and validation included intra-assay and inter-assay coefficients of variation, effect of circadian rhythm, and stability over time at room temperature, 4°C, and repeated freeze-thaw cycles...
February 22, 2017: Neurology
https://www.readbyqxmd.com/read/28220290/epidemiology-of-amyotrophic-lateral-sclerosis-in-southern-germany
#8
Angela Rosenbohm, Raphael S Peter, Siegfried Erhardt, Dorothée Lulé, Dietrich Rothenbacher, Albert C Ludolph, Gabriele Nagel
The objective of this study is to determine the current distribution of clinical phenotypes and to estimate future trends of ALS incidence in Western societies. We report on a clinical-epidemiological registry with a capture-recapture rate of >80% and population-based case-control study in ALS patients in South Western Germany. 1163 incidents of ALS were registered. Clinical and neuropsychological data were prospectively collected from 699 cases. The mean age at onset was 66.6 (SD = 11.6) years in prospective cases (N = 699)...
February 20, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28163193/the-neuropathological-signature-of-bulbar-onset-als-a-systematic-review
#9
REVIEW
S Shellikeri, V Karthikeyan, R Martino, S E Black, L Zinman, J Keith, Y Yunusova
ALS is a multisystem disorder affecting motor and cognitive functions. Bulbar-onset ALS (bALS) may be preferentially associated with cognitive and language impairments, compared with spinal-onset ALS (sALS), stemming from a potentially unique neuropathology. The objective of this systematic review was to compare neuropathology findings reported for bALS and sALS subtypes in studies of cadaveric brains. Using Cochrane guidelines, we reviewed articles in MEDLINE, Embase, and PsycINFO databases using standardized search terms for ALS and neuropathology, from inception until July 16th 2016...
February 2, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28140676/further-analysis-of-kifap3-gene-in-als-patients-from-switzerland-and-sweden
#10
David Czell, Peter C Sapp, Christoph Neuwirth, Markus Weber, Peter M Andersen, Robert H Brown
A series of studies suggests that susceptibility to ALS may be influenced by variants in multiple genes. While analyses of the 10% of cases of familial origin have identified more than 33 monogenic ALS-causing genetic defects, little is known about genetic factors that influence susceptibility or phenotype in sporadic ALS (SALS). We and others conducted a genome-wide association study (GWAS) in a cohort of 1014 ALS cases from Western Europe, England and the United States, and identified an intronic single nucleotide polymorphism (SNP) rs1541160 in the KIFAP3 gene that was statistically associated with improved survival...
January 31, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
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
#11
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-amyotrophic-lateral-sclerosis
#12
Bülent Cengiz, Merve Bahar Ercan, Mustafa İskender, Hidayet Reha Kuruoğlu
INTRODUCTION: In this study we explored brainstem reflex excitability changes, blink reflex recovery cycles (BRRCs), and masseter inhibitory reflexes (MIRs) in patients with amyotrophic lateral sclerosis (ALS). METHODS: Fourteen ALS patients and 14 healthy control subjects were recruited. The BRRC was examined at interstimulus intervals (ISIs) 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...
January 17, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28087734/increased-mitophagy-in-the-skeletal-muscle-of-spinal-and-bulbar-muscular-atrophy-patients
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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 mimics 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
#19
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
#20
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
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