Barrow researchers validate five new genes responsible for ALS

(St. Joseph's Hospital and Medical Center) Barrow Neurological Institute researchers have completed additional experiments that validate the identification of five new genes linked to Amyotrophic Lateral Sclerosis (ALS) -- also known as Lou Gehrig's disease. The new study results, validated through five different methods, were published in a full length manuscript in Acta Neuropathologica, validating earlier findings in the project.
Source: EurekAlert! - Biology - Category: Biology Source Type: news

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Publication date: Available online 16 October 2018Source: Journal of Biomedical InformaticsAuthor(s): M. Ahangaran, M.R. Jahed-Motlagh, B. Minaei-BidgoliAbstractOne of the most important issues in predictive modeling is to determine major cause factors of a phenomenon and causal relationships between them. Extracting causal relationships between parameters in a natural phenomenon can be accomplished through checking the parameters’ changes in consecutive events. In addition, using information and probabilistic theory help better conception of causal relationships of a phenomenon. Therefore, probabilistic causal disco...
Source: Journal of Biomedical Informatics - Category: Information Technology Source Type: research
Authors: Ohnari K, Okada K, Higuchi O, Matsuo H, Adachi H Abstract An 82-year-old woman developed neck weakness and dysarthria with antibodies against acetylcholine receptor (AChR) and low-density lipoprotein receptor-related protein 4 (LRP4). Myasthenia gravis (MG) was diagnosed by edrophonium and repetitive nerve stimulation tests. Her symptoms resolved completely by immunotherapy. One year later, she presented with muscle weakness and bulbar palsy accompanied by atrophy and fasciculation. Her tendon reflexes were brisk, and Babinski's sign was positive. She was diagnosed with probable amyotrophic lateral scleros...
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
This article provides an overview of recent advancements in the fields of hereditary motor neuropathies and ALS.Recent FindingsThere has been a robust growth in our knowledge and understanding of hereditary and degenerative motor neuronopathies/neuropathies over the last decade. Many breakthroughs in the field of hereditary motor neuropathies (HMN) have been associated with identification and characterization of the genes and molecular mechanisms underlying these disorders. Similar recent breakthroughs on the genetic and molecular underpinnings of the degenerative motor neuronopathy, amyotrophic lateral sclerosis (ALS), ha...
Source: Current Neurology and Neuroscience Reports - Category: Neuroscience Source Type: research
Publication date: Available online 16 October 2018Source: Journal of Neuroscience MethodsAuthor(s): Wilson BarnabasAbstractBrain specific drug delivery is one of the most interesting and challenging areas of research. The blood-brain barrier separates the brain from blood and acts as a barrier to protect the brain from microorganisms, neurotoxins and chemical substances. But, the same mechanism poses an obstacle for the entry of many drugs into the brain. Worldwide, approximately 1.5 billion people are suffering from CNS disorders, such as Parkinson’s disease, Alzheimer’s disease, multiple sclerosis, amyotrophi...
Source: Journal of Neuroscience Methods - Category: Neuroscience Source Type: research
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder leading to chronic respiratory failure. Few studies have investigated ALS-related dyspnoea, and none have characterised the emotional distress it inflicts. We hypothesised that ALS-related dyspnoea has a strong affective component that relates to quality of life.
Source: Respiratory Medicine - Category: Respiratory Medicine Authors: Source Type: research
European Journal of Neurology,Volume 0, Issue ja, -Not available-.
Source: European Journal of Neurology - Category: Neurology Authors: Source Type: research
TAR DNA binding protein 43 (TDP-43) is the main disease protein in most patients with amyotrophic lateral sclerosis (ALS) and about 50% of patients with frontotemporal dementia (FTD). TDP-43 pathology is not r...
Source: Molecular Neurodegeneration - Category: Neurology Authors: Tags: Research article Source Type: research
This study systematically evaluated the relationship between BMI and survival in patients with ALS. Methods The PubMed database was searched to identify all available studies reporting time-to-event data. Eight studies with 6,098 patients fulfilled the eligibility criteria. BMI was considered a continuous and ordered variable. Interstudy heterogeneity was assessed by the Cochran Q test and quantified by the I2 metric. Fixed- or random-effects odds ratios summarized pooled effects after taking interstudy variability into account. Significance was set at p
Source: Neurology Clinical Practice - Category: Neurology Authors: Tags: Amyotrophic lateral sclerosis Review Source Type: research
Muscle&Nerve, EarlyView.
Source: Muscle and Nerve - Category: Internal Medicine Authors: Source Type: research
Muscle&Nerve, EarlyView.
Source: Muscle and Nerve - Category: Internal Medicine Authors: Source Type: research
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