Search results for "Amyotrophic Lateral"
showing 10 items of 230 documents
Fractal analyses reveal independent complexity and predictability of gait
2017
Locomotion is a natural task that has been assessed since decades and used as a proxy to highlight impairments of various origins. Most studies adopted classical linear analyses of spatio-temporal gait parameters. Here, we use more advanced, yet not less practical, non-linear techniques to analyse gait time series of healthy subjects. We aimed at finding more sensitive indexes related to spatio-temporal gait parameters than those previously used, with the hope to better identify abnormal locomotion. We analysed large-scale stride interval time series and mean step width in 34 participants while altering walking direction (forward vs. backward walking) and with or without galvanic vestibular…
The MITOS system predicts long-term survival in amyotrophic lateral sclerosis
2015
ObjectiveThe choice of adequate proxy for long-term survival, the ultimate outcome in randomised clinical trials (RCT) assessing disease-modifying treatments for amyotrophic lateral sclerosis (ALS), is a key issue. The intrinsic limitations of the ALS Functional Rating Scale-Revised (ALSFRS-R), including non-linearity, multidimensionality and floor-effect, have emerged and its usefulness argued. The ALS Milano-Torino staging (ALS-MITOS) system was proposed as a novel tool to measure the progression of ALS and overcome these limitations. This study was performed to validate the ALS-MITOS as a 6-month proxy of survival in 200 ALS patients followed up to 18 months.MethodsAnalyses were performe…
Genome-wide association study of motor coordination problems in ADHD identifies genes for brain and muscle function.
2012
Item does not contain fulltext OBJECTIVES: Motor coordination problems are frequent in children with attention deficit/hyperactivity disorder (ADHD). We performed a genome-wide association study to identify genes contributing to motor coordination problems, hypothesizing that the presence of such problems in children with ADHD may identify a sample of reduced genetic heterogeneity. METHODS: Children with ADHD from the International Multicentre ADHD Genetic (IMAGE) study were evaluated with the Parental Account of Children's Symptoms. Genetic association testing was performed in PLINK on 890 probands with genome-wide genotyping data. Bioinformatics enrichment-analysis was performed on highly…
Cerebrospinal fluid tau protein is not a biological marker in amyotrophic lateral sclerosis.
2009
Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder leading to progressive motor neuron cell death. Etiopathogenesis is still imperfectly known and much effort have been undertaken to find a biological marker that could help in the early diagnosis and in the monitoring of disease progression. Cerebrospinal fluid (CSF) concentrations of tau, an axonal microtubule-associated protein, have been measured in ALS with levels found increased in some studies and unchanged in others. Methods: Total CSF tau level was assayed in a population of ALS patients (n = 57) and controls (n = 110) using a specific ELISA method. Results: No significant differences in the median CS…
Effect of one-year dextromethorphan/quinidine treatment on management of respiratory impairment in amyotrophic lateral sclerosis
2021
Abstract Treatment with Dextromethorphan/Quinidine (DM/Q) has demonstrated benefit on pseudobulbar affect and bulbar function in amyotrophic lateral sclerosis (ALS). The aim of this study was to assess whether DM/Q could provide long-term improvement in bulbar function and thereby prolong noninvasive respiratory management in ALS. Materials and methods This prospective, case-cohort study, recruited ALS patients with bulbar dysfunction. Subjects included were compared with cross-matched historical controls. Cases received DM/Q (20/10 mg twice daily) during one-year follow-up; bulbar dysfunction was evaluated with the Norris scale bulbar subscore (NBS) and bulbar subscale of AlSFRS-R (ALSFRSb…
Predictors of Ineffective Cough during a Chest Infection in Patients with Stable Amyotrophic Lateral Sclerosis
2007
In patients with neuromuscular diseases, a chest infection is associated with a reduction in respiratory muscle function that may result in decreased cough effectiveness.To determine if a clinical or functional parameter in patients with amyotrophic lateral sclerosis (ALS) in a stable condition could predict spontaneous cough ineffectiveness during a respiratory tract infection.Forty consecutive patients with ALS referred to our Respiratory Care Unit were studied during a one-year follow-up.FEV(1), FVC, FEV(1)/FVC, peak cough flow (PCF), peak velocity time (PVT), maximum inspiratory and expiratory pressures, and bulbar dysfunction evaluation using the Norris scale bulbar subscore (NBS). A t…
Development of chronic hypoventilation in amyotrophic lateral sclerosis patients
2006
SummaryEarly prediction of respiratory muscle involvement and chronic hypoventilation (CH) in amyotrophic lateral sclerosis (ALS) patients can help to plan mechanical ventilatory aids and palliative care interventions well before respiratory failure occurs. To describe the natural history of the progressive pulmonary dysfunction leading to CH, and to identify potential parameters associated with its development in ALS, we prospectively followed 38 ALS patients up to 26 months, starting from their first presentation at our Clinic. At study entry, median FVC was 87% (interquartile range: 72–104%) and declined by 10% after 6 months (range: 2–49%), showing a very high inter-patient variability.…
Effectiveness of assisted and unassisted cough capacity in amyotrophic lateral sclerosis patients.
2017
Decreased cough capacity during a respiratory infection is one of the main causes of acute respiratory failure and hospitalisation in amyotrophic lateral sclerosis (ALS).To determine whether a respiratory measurement could identify the effectiveness of cough capacity in ALS during a respiratory infection.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. The effectiveness of unassisted and assisted coughing was evaluated and respiratory function tests were performed during the acute episode.Forty-eight ALS patients were enrolled, with only four having an effective unassisted cough. The variable which…
Bulbar impairment score predicts noninvasive volume-cycled ventilation failure during an acute lower respiratory tract infection in ALS.
2015
Amyotrophic lateral sclerosis (ALS) patients can suffer episodes of lower respiratory tract infections (LRTI) leading to an acute respiratory failure (ARF) requiring noninvasive ventilation (NIV).To determine whether clinical or functional parameters can predict noninvasive management failure during LRTI causing ARF in ALS.A prospective study involving all ALS patients with ARF requiring NIV in a Respiratory Care Unit. NIV was provided with volume-cycled ventilators.63 ALS patients were included (APACHE II: 14.93±3.56, Norris bulbar subscore (NBS): 18.78±9.68, ALSFRS-R: 19.90±6.98, %FVC: 40.01±18.07%, MIC: 1.62±0.74L, PCF 2.51±1.15L/s, PImax -34.90±19.44cmH2O, PEmax 51.20±28.84cmH2O). In 73…
ALS-Related Mutant FUS Protein Is Mislocalized to Cytoplasm and Is Recruited into Stress Granules of Fibroblasts from Asymptomatic FUS P525L Mutation…
2017
Background: Amyotrophic lateral sclerosis (ALS) shows a strong genetic basis, with SOD1, FUS, TARDBP, and C9ORF72 being the genes most frequently involved. This has allowed identification of asymptomatic mutation carriers, which may be of help in understanding the molecular changes preceding disease onset. Objectives: We studied the cellular expression of FUS protein and the effect of heat-shock-and dithiothreitol-induced stress in fibroblasts from FUS P525L mutation carriers, healthy controls, and patients with sporadic ALS. Methods: Western blots and immunocytochemistry were performed to study the subcellular localization of FUS protein. Control and stressed cells were double stained with…