ALS-linked protein disulfide isomerase variants cause motor dysfunction

This study identifies ER proteostasis imbalance as a risk factor for ALS, driving initial stages of the disease.
Source: EMBO Journal - Category: Molecular Biology Authors: Tags: Molecular Biology of Disease, Neuroscience Articles Source Type: research

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Authors: Han HJ, Park HJ, Yun U, Choi YC PMID: 33029983 [PubMed]
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
CONCLUSIONS: Subcortical gray-matter structures are involved in the neurodegenerative process of ALS before cognitive impairment becomes evident. PMID: 33029965 [PubMed]
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
CONCLUSIONS: We have performed a validation study of the Korean version of a disease-specific functional rating scale for SBMA patients. The SBMAFRS is a useful tool for clinical practice and as a potential outcome measure for Korean SBMA patients. PMID: 33029964 [PubMed]
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
Reexamine cost-effectiveness of riluzole in the treatment of amyotrophic lateral sclerosis (ALS) in light of recent advances in disease staging and understanding of stage-specific drug effect.
Source: Value in Health - Category: International Medicine & Public Health Authors: Source Type: research
Conditions:   Amyotrophic Lateral Sclerosis;   Motor Neuron Disease Interventions:   Drug: Pegcetacoplan (APL-2);   Other: Placebo Sponsor:   Apellis Pharmaceuticals, Inc. Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Condition:   Amyotrophic Lateral Sclerosis (ALS) Intervention:   Drug: MT-1186 Sponsor:   Mitsubishi Tanabe Pharma Development America, Inc. Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Abstract Amyotrophic lateral sclerosis (ALS) is a degenerative disorder caused by motor neuron loss. T-cell intracellular antigen-1 (TIA-1), a cytotoxic T lymphocyte granule-associated RNA binding protein, is a key component of stress granules. However, it remains uncertain whether ALS-causing superoxide dismutase-1 (SOD1) toxicity alters the dynamics of stress granules. Thus, through mouse and cell line models, and human cells and tissues, we showed the subcellular location of TIA-1 and its recruitment by stress granules following mutant SOD1-related stimuli. An overexpression of MTSOD1 resulted in increased TIA-...
Source: Neurochemical Research - Category: Neuroscience Authors: Tags: Neurochem Res Source Type: research
AbstractOver the last months, due to coronavirus disease (COVID-19) pandemic, containment measures have led to important social restriction. Healthcare systems have faced a complete rearrangement of resources and spaces, with the creation of wards devoted to COVID-19 patients. In this context, patients affected by chronic neurological diseases, such as amyotrophic lateral sclerosis (ALS), are at risk to be lost at follow-up, leading to a higher risk of morbidity and mortality. Telemedicine may allow meet the needs of these patients. In this commentary, we briefly discuss the digital tools to remotely monitor and manage ALS...
Source: Neurological Sciences - Category: Neurology Source Type: research
In this study, we aimed to determine the relevance of FGF21 pathway stimulation in a male mouse model of ALS (mutatedSOD1-G93A mice) by using a pharmacological agonist of FGF21, R1Mab1. Mice (SOD1-WT and mutant SOD1-G93A) were treated with R1Mab1 or vehicle. Longitudinal data about clinical status (motor function, body weight) and biological parameters (including hormonal, immunological, and metabolomics profiles) were collected from the first symptoms to euthanasia at week 20. Multivariate models were performed to identify the main parameters associated with R1Mab1 treatment and to link them with clinical status, and meta...
Source: Neurotherapeutics - Category: Neurology Source Type: research
Conclusion: The Spanish translation of the DAS is valid and reliable for use in assessing multidimensional apathy in the Spanish population. Availability of the Spanish DAS will allow for future research to explore different apathy subtypes and their impact in ALS and other conditions.
Source: Frontiers in Neurology - Category: Neurology Source Type: research
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