UCSF researcher identifies risk genes for ALS

(University of California - San Francisco) The largest analysis to date of genetic data in amyotrophic lateral sclerosis (ALS) -- the muscle-crippling neurodegenerative disease that afflicted the late astrophysicist Stephen Hawking and cut short the career of iconic Yankee baseball slugger Lou Gehrig -- has identified two previously unrecognized genetic risks that are significantly associated with the disease.
Source: EurekAlert! - Infectious and Emerging Diseases - Category: Infectious Diseases Source Type: news

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Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease that occurs in 4 among 100 000 people in the United States. Individuals with ALS gradually lose their ability to control voluntary muscles, diminishing their ability to communicate. A comprehensive multidatabase search retrieved 31 qualitative research articles that addressed persons with end-of-life experiences with ALS. Inclusion/exclusion criteria were applied and a critical appraisal was applied for the final 8 included articles. First-person data extraction from the final articles represented emergence of 3 themes significant to persons with ALS: deci...
Source: Holistic Nursing Practice - Category: Nursing Tags: FEATURES Source Type: research
Conclusions: Despite some statistical instability of the results due to limitations in sample size, our study supports the role of CSF pNfH as a prognostic biomarker for motor neuron diseases presenting with UMN signs. A potential power to discriminate between ALS and other UMN syndromes at presentation, and between all of the examined MND and HC, has been detected for both CSF and serum pNfH.Neurodegener Dis 2018;18:255 –261
Source: Neurodegenerative Diseases - Category: Neurology Source Type: research
AbstractIntroductionThe progression of amyotrophic lateral sclerosis (ALS) leads to a decline of the nutritional status that represents an independent prognostic factor for survival. Recent studies recognize the muscle tissue as an endocrine organ able to release several molecules, called myokines. Among them, irisin seems to be involved in the regulation of metabolism, body weight and development and function of the nervous system.Objectives(1) To evaluate irisin serum levels in patients with ALS, with comparison to healthy subjects; (2) to assess the possible association of circulating irisin levels of ALS patients with ...
Source: Journal of Neurology - Category: Neurology Source Type: research
In this study we used hSOD1(G93A) microglial cells to investigate the effects of the antioxidant and anti-inflammatory cyclic dipeptide (His-Pro) on LPS-induced inflammasome activation. We found that cyclo(His-Pro) inhibits NLRP3 inflammasome activation by reducing protein nitration via reduction in NO and ROS levels, indicative of lower peroxynitrite generation by LPS. Low levels in peroxynitrite are related to NF-κB inhibition responsible for iNOS down-regulation and NO dampening. On the other hand, cyclo(His-Pro)-mediated ROS attenuation, not linked to Nrf2 activation in this cellular model, is ascribed to increas...
Source: Molecular and Cellular Neuroscience - Category: Neuroscience Source Type: research
(University of Missouri-Columbia) There is no cure for amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's Disease, but new findings from the University of Missouri School of Medicine and the University of Missouri College of Veterinary Medicine are deepening researchers' understanding of a common ALS symptom: swallowing problems.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
Source: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration - Category: Neurology Authors: Source Type: research
Source: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration - Category: Neurology Authors: Source Type: research
TDP-43 aggregates in neurons and glia are the defining pathological hallmark of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), raising the possibility of glial damage in the disease pathogenesis. However, the normal physiological functions of TDP-43 in glia are largely unknown. To address how TDP-43 may be required for...
Source: Proceedings of the National Academy of Sciences - Category: Science Authors: Tags: PNAS Plus Source Type: research
inseman Neurodegenerative disorders such as amyotrophic lateral sclerosis (ALS), Alzheimer’s disease, and Parkinson’s disease, are characterized by the progressive loss of neurons in specific regions of the brain and/or spinal cord. Neuronal cell loss typically occurs by either apoptotic or necrotic mechanisms. Oxidative stress and nitrosative stress, along with excitotoxicity and caspase activation, have all been implicated as major underlying causes of neuronal cell death. Diverse nutraceuticals (bioactive compounds found in common foods) have been shown to have neuroprotective effects in a variet...
Source: Molecules - Category: Chemistry Authors: Tags: Article Source Type: research
Authors: Pinto WBVR, Nunes P, Lima E Teixeira I, Assis ACD, Naylor FGM, Chieia MAT, Souza PVS, A S B Oliveira Abstract Atypical motor neuron disease represents a rare heterogeneous group of neurodegenerative disorders with clinical, genetic and neuroimaging features distinct from those of the classic spinal or bulbar-onset amyotrophic lateral sclerosis (ALS). O'Sullivan-McLeod syndrome represents an extremely rare lower motor neuronopathy with early adult-onset distal amyotrophy and weakness in the upper limbs with asymmetrical involvement. To add to the few case series and epidemiological and genetic studies descr...
Source: Revue Neurologique - Category: Neurology Tags: Rev Neurol (Paris) Source Type: research
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