Researchers identify promising proteins for diagnostic, prognostic use in ALS

(North Carolina State University) Researchers from North Carolina State University have identified proteins that may be useful in both earlier diagnosis of Amyotrophic Lateral Sclerosis (ALS) and in more accurate disease prognosis.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news

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Abstract The goal of this study was to identify neurostructural frontal lobe correlates of cognitive and speaking rate changes in amyotrophic lateral sclerosis (ALS). 17 patients diagnosed with ALS and 12 matched controls underwent clinical, bulbar, and neuropsychological assessment and structural neuroimaging. Neuropsychological testing was performed via a novel computerized frontal battery (ALS-CFB), based on a validated theoretical model of frontal lobe functions, and focused on testing energization, executive function, emotion processing, theory of mind, and behavioral inhibition via antisaccades. The measure ...
Source: Behavioural Neurology - Category: Neurology Authors: Tags: Behav Neurol Source Type: research
Large-scale sequencing efforts in amyotrophic lateral sclerosis (ALS) have implicated novel genes using gene-based collapsing methods. However, pathogenic mutations may be concentrated in specific genic regions. To address this, we developed two collapsing strategies: One focuses rare variation collapsing on homology-based protein domains as the unit for collapsing, and the other is a gene-level approach that, unlike standard methods, leverages existing evidence of purifying selection against missense variation on said domains. The application of these two collapsing methods to 3093 ALS cases and 8186 controls of European ...
Source: Genome Research - Category: Genetics & Stem Cells Authors: Tags: METHOD Source Type: research
Conclusions In this review, we analyzed mechanisms through which mitobolites, a distinct set of mitochondria-generated metabolites, can be released from mitochondria and then act as second messengers that contribute to cellular and organismal aging by regulating longevity-defining processes outside of mitochondria. Our analysis indicates that in eukaryotes across phyla, these second messengers of cellular aging exhibit the following common features: (1) they are produced in mitochondria in response to certain changes in the nutrient, stress, proliferation or age status of the cell; it remains unknown, however, what kind o...
Source: Frontiers in Physiology - Category: Physiology Source Type: research
A clinically useful model to prognose onset of respiratory insufficiency in amyotrophic lateral sclerosis (ALS) would inform disease interventions, communication and clinical trial design. We aimed to derive and validate a clinical prognostic model for respiratory insufficiency within 6 months of presentation to an outpatient ALS clinic. We used multivariable logistic regression and internal cross-validation to derive a clinical prognostic model using a single-centre cohort of 765 ALS patients who presented between 2006 and 2015. External validation was performed using the multicentre Pooled Resource Open-Access ALS C...
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Respiratory clinical practice Original Articles: Respiratory clinical practice Source Type: research
In the 1980s the United States Marine Corps had an advertising campaign built around the phrase, "The Marines are looking for a few good men" (figure 1). This non-gender-neutral slogan would probably not succeed today, but the sentiment could be applied toward the care of amyotrophic lateral sclerosis (ALS). We're looking for a few good pulmonologists. ALS is a progressive neuromuscular disease in which there is degeneration of both upper and lower motor neurons, leading to diffuse muscle weakness and spasticity. It is commonly known as Lou Gehrig's disease in the USA, and motor neurone disease in the UK. As ALS ...
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Editorials Source Type: research
Qi Li*, Zhaohua Lu, Ning Gao and Jingjing Yang School of Computer Science and Technology, Changchun University of Science and Technology, Changchun, China Objective: P300-speller is the most commonly used brain-computer interface (BCI) for providing a means of communication to patients with amyotrophic lateral sclerosis. However, the performance of the P300-speller BCI is still inadequate. We investigated whether the performance of P300-speller can be further improved by increasing the mental effort required of the user. Methods: We designed two active mental tasks for a P300-speller based on a differently colo...
Source: Frontiers in Human Neuroscience - Category: Neuroscience Source Type: research
In this study, we used a monosynaptic rabies tracing technique to label the whole-brain inputs to specific cell types in the MOp and MOs simultaneously in a same transgenic mouse. First, 150 nl AAV helper mixtures were injected into the ipsilateral MOp (AP:1.54 mm, ML:1.70 mm, DV:-1.50 mm) and MOs (AP:1.54 mm, ML:0.50 mm, DV:-1.35 mm) in Thy1-cre or Vgat-cre mice respectively, mixed with rAAV2/9-Ef1α-DIO-BFP-2a-TVA-WPRE-pA and rAAV2/9-Ef1α-DIO-RG-WPRE-pA as the ratio of 1:2. Three weeks later, 300 nl RV-ΔG-EnVA-EGFP and RV-ΔG-EnVA-Dsred were injected into the two subregions of the MC respectively. O...
Source: Frontiers in Neuroanatomy - Category: Neurology Source Type: research
Abstract Previous MRI and proton spectroscopy (1H-MRS) studies have revealed impaired neuronal integrity and altered neurometabolite concentrations in the motor cortex of patients with amyotrophic lateral sclerosis (ALS). Here, we aim to use MRI with conventional and novel MRS sequences to further investigate neurometabolic changes in the motor cortex of ALS patients and their relation to clinical parameters. We utilized the novel HERMES (Hadamard Encoding and Reconstruction of MEGA-Edited Spectroscopy) MRS sequence to simultaneously quantify the inhibitory neurotransmitter GABA and antioxidant glutathione in ALS ...
Source: Brain Research - Category: Neurology Authors: Tags: Brain Res Source Type: research
The hexanucleotide repeat expansion in the C9orf72 gene is the most common genetic variant found in individuals with sporadic amyotrophic lateral sclerosis (ALS), occurring at a frequency of between 7 and 11% in cohorts of European ancestry. While limited data suggest that C9-expansions (>30 repeats) are less frequent in African-Americans with ALS, there is no data on the frequency of C9-expansions among ALS subjects residing in Africa. We therefore investigated the frequency of this expansion mutation (using repeat-primed PCR) in a cohort of 143 South Africans (SA) with ALS.
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Source Type: research
AbstractThe pressure to develop pharmacological therapeutic interventions in the field of the rapidly progressing, fatal disease amyotrophic lateral sclerosis (ALS) is traditionally high. Cannabinoids have been discussed for decades as potential neuroprotective agents for ALS because of their antiexcitatory, anti ‐inflammatory, antiapoptotic and anticatabolic properties. This Editorial highlights a study by Urbi et al in the current issue of the Journal of Neurochemistry, in which the authors performed a Systematic Review and come to the conclusion that cannabinoids seem to have a small, but consistent eff ect on surviva...
Source: Journal of Neurochemistry - Category: Neuroscience Authors: Tags: Editorial Highlight Source Type: research
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