29,141 results match your criteria amyotrophic lateral

Ultra-high field (7T) functional magnetic resonance imaging in amyotrophic lateral sclerosis: a pilot study.

Neuroimage Clin 2021 Mar 30;30:102648. Epub 2021 Mar 30.

Sean M. Healey & AMG Center for ALS at Massachusetts General Hospital, Department of Neurology, Neurological Clinical Research Institute, Boston, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA; Sanofi Genzyme, Cambridge, MA, USA.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of the central nervous system that results in a progressive loss of motor function and ultimately death. It is critical, yet also challenging, to develop non-invasive biomarkers to identify, localize, measure and/or track biological mechanisms implicated in ALS. Such biomarkers may also provide clues to identify potential molecular targets for future therapeutic trials. Read More

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Early advance care planning in amyotrophic lateral sclerosis patients: results of a systematic intervention by a palliative care team in a multidisciplinary management programme - a 4-year cohort study.

Swiss Med Wkly 2021 Mar 18;151:w20484. Epub 2021 Mar 18.

Palliative Care Consultation, Division of Palliative Medicine, Department of Rehabilitation and Geriatrics, Geneva University Hospitals, Switzerland / Unit for Development and Research in Medical Education (UDREM), Faculty of Medicine, University of Geneva, Switzerland.

Introduction: Although recommended, the implementation of early advance care planning is suboptimal in amyotrophic lateral sclerosis (ALS) patients. Barriers to advance care planning include healthcare professionals’ and patients’ reluctance, and uncertainty about the right time to initiate a discussion.

Aim Of The Study: To determine how often advance care planning was initiated, and the content of the discussion in a first routine palliative care consultation integrated within a multidisciplinary management programme. Read More

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Epidemiological and genetic features of amyotrophic lateral sclerosis in Latin America and the Caribbean: a systematic review.

Amyotroph Lateral Scler Frontotemporal Degener 2021 Apr 19:1-13. Epub 2021 Apr 19.

Institute of Epidemiology and Tropical Neurology, INSERM, Univ. Limoges, CHU Limoges, IRD, U1094 Tropical Neuroepidemiology, GEIST, Limoges, France.

: Heterogeneity of amyotrophic lateral sclerosis (ALS) has been suggested in terms of epidemiology, phenotypes and genetics between geographic areas and populations. However, there is limited information in Latin America. We conducted a systematic review that aimed to describe the epidemiology, frequency of genetic mutations, clinical characteristics and survival of ALS patients in this region. Read More

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Behavioural effects of cage systems on the G93A Superoxide Dismutase 1 transgenic mouse model for Amyotrophic Lateral Sclerosis.

Genes Brain Behav 2021 Apr 19:e12735. Epub 2021 Apr 19.

School of Medicine, Western Sydney University, NSW, Australia.

Environmental factors inherent to animal facilities can impact on the neuro-behavioural phenotype of laboratory mice and genetic mouse models for human diseases. Many facilities have upgraded from traditional 'open filter top' cages (FT) to individually ventilated cage (IVC) systems, which have been shown to modify various behavioural responses of laboratory mice. Importantly, the impact of IVC housing on the G93A superoxide dismutase 1 mouse model of amyotrophic lateral sclerosis (ALS) is currently unknown. Read More

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A serum microRNA sequence reveals fragile X protein pathology in amyotrophic lateral sclerosis.

Brain 2021 Apr 19. Epub 2021 Apr 19.

Department of Neurology, Ulm University, Ulm, Germany.

Knowledge about converging disease mechanisms in the heterogeneous syndrome amyotrophic lateral sclerosis (ALS) is rare, but may lead to therapies effective in most ALS cases. Previously, we identified serum microRNAs downregulated in familial ALS, the majority of sporadic ALS patients, but also in presymptomatic mutation carriers. A 5-nucleotide sequence motif (GDCGG; D = G, A or U) was strongly enriched in these ALS-related microRNAs. Read More

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Coexistence of myasthenia gravis and amyotrophic lateral sclerosis in a Bosnian male: an unusual clinical presentation.

Acta Myol 2021 Mar 31;40(1):66-68. Epub 2021 Mar 31.

Department of Physical Medicine and Rehabilitation, University Clinical Centre Tuzla, Bosnia and Herzegovina.

Purpose: Myasthenia gravis (MG) and amyotrophic lateral sclerosis (ALS) are two different diseases. The coexistence of both of them is extremely rare and represents a diagnostic challenge which requires thoughtful interpretation of clinical characteristics.

Case Report: We present the case of a 46-year-old Bosnian male who developed ALS five months after MG. Read More

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Adipose-derived stem cells protect motor neurons and reduce glial activation in both and models of ALS.

Mol Ther Methods Clin Dev 2021 Jun 27;21:413-433. Epub 2021 Mar 27.

Sheffield Institute for Translational Neuroscience (SITraN), Department of Neuroscience, Faculty of Medicine, Dentistry and Health, The University of Sheffield, 385 Glossop Rd., Sheffield S10 2HQ, UK.

Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative condition for which new therapeutic options are urgently needed. We injected GFP adipose-derived stem cells (EGFP-ADSCs) directly into the cerebrospinal fluid (CSF) of transgenic SOD1 mice, a well-characterized model of familial ALS. Despite short-term survival of the injected cells and limited engraftment efficiency, EGFP-ADSCs improved motor function and delayed disease onset by promoting motor neuron (MN) survival and reducing glial activation. Read More

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The Role of Mitochondrial Dysfunction and ER Stress in TDP-43 and C9ORF72 ALS.

Front Cell Neurosci 2021 1;15:653688. Epub 2021 Apr 1.

Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of the motor system with complex determinants, including genetic and non-genetic factors. Despite this heterogeneity, a key pathological signature is the mislocalization and aggregation of specific proteins in the cytoplasm, suggesting that convergent pathogenic mechanisms focusing on disturbances in proteostasis are important in ALS. In addition, many cellular processes have been identified as potentially contributing to disease initiation and progression, such as defects in axonal transport, autophagy, nucleocytoplasmic transport, ER stress, calcium metabolism, the unfolded protein response and mitochondrial function. Read More

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Apathy is associated with parietal cortical-subcortical dysfunction in ALS.

Cortex 2021 Mar 23. Epub 2021 Mar 23.

Brain & Mind Centre, University of Sydney, NSW, Australia; Faculty of Medicine and Health, University of Sydney, NSW, Australia; Department of Neurology, Royal Prince Alfred Hospital, Sydney, NSW, Australia. Electronic address:

Apathy is the core behavioural feature of frontotemporal dysfunction in amyotrophic lateral sclerosis (ALS). Initiation and emotional manifestations of apathy significantly affect patients and carers, particularly in terms of quality of life. As such, the primary aim of the present study was to investigate the prevalence and neural correlates of initiation, and emotional subtypes of apathy in ALS. Read More

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Post-transplant nephrotic syndrome resulting from NELL1-positive membranous nephropathy.

Am J Transplant 2021 Apr 18. Epub 2021 Apr 18.

Division of Nephrology, Department of Internal Medicine, University of Leipzig Medical Center, Leipzig, Germany.

Membranous nephropathy (MN) constitutes a major cause of nephrotic syndrome in adults. After kidney transplantation (KTx), both recurrent and de-novo MN has been reported. In addition to PLA2R and THSD7A, recent identification of neural EGFL-like-1 protein, NELL1, as a potential disease antigen has enriched our understanding of MN pathogenesis. Read More

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Prediction of survival in amyotrophic lateral sclerosis: a nationwide, Danish cohort study.

BMC Neurol 2021 Apr 17;21(1):164. Epub 2021 Apr 17.

Department of Neuroanaesthesiology, Neuroscience Centre, Rigshospitalet, Copenhagen, Denmark.

Introduction: Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease with great heterogeneity. Biological prognostic markers are needed for the patients to plan future supportive treatment, palliative treatment, and end-of-life decisions. In addition, prognostic markers are greatly needed for the randomization in clinical trials. Read More

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Potential medicinal value of celastrol and its synthesized analogues for central nervous system diseases.

Biomed Pharmacother 2021 Apr 14;139:111551. Epub 2021 Apr 14.

Key Laboratory of Shaanxi Administration of Traditional Chinese Medicine for TCM Compatibility, and State Key Laboratory of Research & Development of Characteristic Qin Medicine Resources (Cultivation), and Shaanxi Key Laboratory of Chinese Medicine Fundamentals and New Drugs Research, and Shaanxi Collaborative Innovation Center of Chinese Medicinal Resources Industrialization, Shaanxi University of Chinese Medicine, Xi'an 712046, Shaanxi Province, China. Electronic address:

The central nervous system (CNS) is a vital part of the human nervous system, and the incidence of CNS disease is increasing year by year, which has become a major public health problem and a prominent social problem. At present, the drugs most commonly used in the clinic are receptor regulators, and neurotransmitter inhibitors, but they are accompanied by serious side effects. Therefore, the identification of new drugs and treatment strategies for CNS disease has been a research hotspot in the medical field. Read More

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Cognitive and behavioural impairment in amyotrophic lateral sclerosis: A landmark of the disease? A mini review of longitudinal studies.

Neurosci Lett 2021 Apr 15;754:135898. Epub 2021 Apr 15.

3rd Neurology Unit and Motor Neuron Diseases Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy; Department of Biomedical and Clinical Sciences "Luigi Sacco", University of Milan, Via Festa del Perdono 7, 20122, Milan, Italy.

Amyotrophic lateral sclerosis (ALS) is a heterogeneous neurodegenerative disease marked by progressive loss of motor abilities. Approximately half of patents with ALS experience cognitive (ALSci) or behavioural impairment (ALSbi) during the course of the disease, with a small percentage developing overt frontotemporal dementia (FTD). ALSci and/or ALSbi can occur simultaneously with motor neuron degeneration or develop in advanced stages of the disease, but it can even precede motor involvement in some cases, namely in ALS patients meeting criteria for FTD. Read More

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Targeting Adenosine Receptors in Neurological Diseases.

Cell Reprogram 2021 Apr;23(2):57-72

Department of Clinical Nutrition, NUR International University, Lahore, Pakistan.

Adenosine plays a significant role in neurotransmission process by controlling the blood pressure, while adenosine triphosphate (ATP) acts as a neuromodulator and neurotransmitter and by activation of P2 receptors, regulates the contractility of the heart. Adenosine signaling is essential in the process of regeneration by regulating proliferation, differentiation, and apoptosis of stem cells. In this review, we have selected neurological disorders (Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, multiple sclerosis, and epilepsy) with clinical trials using antagonists and epigenetic tools targeting adenosine receptor as a therapeutic approach in the treatment of these disorders. Read More

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Fucoidan: a promising agent for brain injury and neurodegenerative disease intervention.

Food Funct 2021 Apr 16. Epub 2021 Apr 16.

School of Life Sciences, Zhengzhou University, Zhengzhou 450001, Henan, China. and Institute of Neuroscience, Zhengzhou University, Zhengzhou, 450052, Henan, China.

Brain injury and neurodegenerative diseases, such as Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis are urgent medical problems, which severely threaten the life quality of patients and their carers. However, there are currently no effective therapies. Fucoidan is a natural compound found in brown algae and some animals, which has multiple biological and pharmacological activities, such as antioxidant, anti-tumor, anti-coagulant, anti-thrombotic, immunoregulatory, anti-viral, and anti-inflammatory effects. Read More

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Slow progression of amyotrophic lateral sclerosis in a Chinese patient carrying SOD1 p.S135T mutation.

Amyotroph Lateral Scler Frontotemporal Degener 2021 Apr 16:1-3. Epub 2021 Apr 16.

Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China and.

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease. Most patients die of respiratory failure within 3 years of onset. In this study, we reported a female Chinese ALS patient with SOD1 c. Read More

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Amyotrophic lateral sclerosis caregiver burden and patients' quality of life during COVID-19 pandemic.

Amyotroph Lateral Scler Frontotemporal Degener 2021 Apr 16:1-3. Epub 2021 Apr 16.

"Rita Levi Montalcini" Department of Neuroscience, University of Turin, Turin, Italy.

To assess patients Quality of life (QoL) and the burden of their caregivers during Covid-19 pandemic and specifically the impact of two-month lockdown period. : In April 2020, a total of 60 patients and 59 caregivers were administered by phone scales assessing patients' QoL (McGill QoL Questionnaire), general health status (EQ-5D-5L), and caregiver burden (Zarit Burden Interview). The administration was repeated one month after the end of lockdown measures, with the addition of a qualitative questionnaire (COVID-QoL Questionnaire) exploring family reorganization and personal perception of lock down. Read More

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Recruitment of population-based controls for ALS cases from the National ALS Registry.

Amyotroph Lateral Scler Frontotemporal Degener 2021 Apr 16:1-7. Epub 2021 Apr 16.

Department of Epidemiology, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA, and.

In 2010, the United States Agency for Toxic Substances and Disease Registry (ATSDR) created the National ALS Registry (Registry) to examine the epidemiology of ALS and potential risk factors. We are currently recruiting population-based controls for an epidemiologic case-control study to examine ALS environmental risk factors using this Registry. To date, we have recruited 181 non-diseased, population-based controls for comparison to Registry cases ( = 280). Read More

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Reconditioning the Neurogenic Niche of Adult Non-human Primates by Antisense Oligonucleotide-Mediated Attenuation of TGFβ Signaling.

Neurotherapeutics 2021 Apr 15. Epub 2021 Apr 15.

Department of Neurology, University Hospital Regensburg, Regensburg, Germany.

Adult neurogenesis is a target for brain rejuvenation as well as regeneration in aging and disease. Numerous approaches showed efficacy to elevate neurogenesis in rodents, yet translation into therapies has not been achieved. Here, we introduce a novel human TGFβ-RII (Transforming Growth Factor-Receptor Type II) specific LNA-antisense oligonucleotide ("locked nucleotide acid"-"NVP-13"), which reduces TGFβ-RII expression and downstream receptor signaling in human neuronal precursor cells (ReNcell CX® cells) in vitro. Read More

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The Cryo-EM Effect: Structural Biology of Neurodegenerative Disease Proteostasis Factors.

J Neuropathol Exp Neurol 2021 Apr 16. Epub 2021 Apr 16.

From the Department of Biochemistry and Biophysics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA (BCC, Y-WC); Graduate Program in Biochemistry and Molecular Biophysics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA (BCC); and Translational Neuropathology Research Laboratory, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA (BCC, EBL).

Neurodegenerative diseases are characterized by the accumulation of misfolded proteins. This protein aggregation suggests that abnormal proteostasis contributes to aging-related neurodegeneration. A better fundamental understanding of proteins that regulate proteostasis may provide insight into the pathophysiology of neurodegenerative disease and may perhaps reveal novel therapeutic opportunities. Read More

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Altered perivascular fibroblast activity precedes ALS disease onset.

Nat Med 2021 Apr 15;27(4):640-646. Epub 2021 Apr 15.

Division of Affinity Proteomics, Department of Protein Science, KTH Royal Institute of Technology, SciLifeLab, Stockholm, Sweden.

Apart from well-defined factors in neuronal cells, only a few reports consider that the variability of sporadic amyotrophic lateral sclerosis (ALS) progression can depend on less-defined contributions from glia and blood vessels. In this study we use an expression-weighted cell-type enrichment method to infer cell activity in spinal cord samples from patients with sporadic ALS and mouse models of this disease. Here we report that patients with sporadic ALS present cell activity patterns consistent with two mouse models in which enrichments of vascular cell genes preceded microglial response. Read More

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Identification of hub molecules of FUS-ALS by Bayesian gene regulatory network analysis of iPSC model: iBRN.

Neurobiol Dis 2021 Apr 12:105364. Epub 2021 Apr 12.

Department of Physiology, Keio University School of Medicine, Tokyo 160-8582, Japan. Electronic address:

Fused in sarcoma/translated in liposarcoma (FUS) is a causative gene of amyotrophic lateral sclerosis (ALS). Mutated FUS causes accumulation of DNA damage and cytosolic stress granule (SG) formation, thereby motor neuron (MN) death. However, key molecular aetiology remains unclear. Read More

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A Helicase Unwinds Hexanucleotide Repeat RNA G-Quadruplexes and Facilitates Repeat-Associated Non-AUG Translation.

J Am Chem Soc 2021 Apr 15. Epub 2021 Apr 15.

Department of Biochemistry and Molecular Biology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland 21205, United States.

The expansion of a hexanucleotide repeat GGGGCC (G4C2) in the gene is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The G4C2 expansion leads to repeat-associated non-AUG (RAN) translation and the production of toxic dipeptide repeat (DPR) proteins, but the mechanisms of RAN translation remain enigmatic. Here, we report that the RNA helicase DHX36 is a robust positive regulator of RAN translation. Read More

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O-GlcNAcylation of TDP-43 suppresses proteinopathies and promotes TDP-43's mRNA splicing activity.

EMBO Rep 2021 Apr 15:e51649. Epub 2021 Apr 15.

Hubei Key Laboratory of Cell Homeostasis, RNA Institute, College of Life Sciences, Renmin Hospital of Wuhan University, Wuhan University, Wuhan, China.

Pathological TDP-43 aggregation is characteristic of several neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD-TDP); however, how TDP-43 aggregation and function are regulated remain poorly understood. Here, we show that O-GlcNAc transferase OGT-mediated O-GlcNAcylation of TDP-43 suppresses ALS-associated proteinopathies and promotes TDP-43's splicing function. Biochemical and cell-based assays indicate that OGT's catalytic activity suppresses TDP-43 aggregation and hyperphosphorylation, whereas abolishment of TDP-43 O-GlcNAcylation impairs its RNA splicing activity. Read More

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Mesenchymal Stem Cells for Neurological Disorders.

Adv Sci (Weinh) 2021 Apr 24;8(7):2002944. Epub 2021 Feb 24.

NeuroRepair Department Mossakowski Medical Research Centre PAS Warsaw 02-106 Poland.

Neurological disorders are becoming a growing burden as society ages, and there is a compelling need to address this spiraling problem. Stem cell-based regenerative medicine is becoming an increasingly attractive approach to designing therapies for such disorders. The unique characteristics of mesenchymal stem cells (MSCs) make them among the most sought after cell sources. Read More

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Destination Amyotrophic Lateral Sclerosis.

Front Neurol 2021 29;12:596006. Epub 2021 Mar 29.

Epigenes Australia Pty Ltd., Melbourne, VIC, Australia.

Amyotrophic Lateral Sclerosis (ALS) is a prototypical neurodegenerative disease characterized by progressive degeneration of motor neurons both in the brain and spinal cord. The constantly evolving nature of ALS represents a fundamental dimension of individual differences that underlie this disorder, yet it involves multiple levels of functional entities that alternate in different directions and finally converge functionally to define ALS disease progression. ALS may start from a single entity and gradually becomes multifactorial. Read More

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Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases.

Genome Med 2021 Apr 14;13(1):59. Epub 2021 Apr 14.

Neurodegenerative Brain Diseases Group, VIB Center for Molecular Neurology, Antwerp, Belgium.

Knowledge of the molecular etiology of neurodegenerative brain diseases (NBD) has substantially increased over the past three decades. Early genetic studies of NBD families identified rare and highly penetrant deleterious mutations in causal genes that segregate with disease. Large genome-wide association studies uncovered common genetic variants that influenced disease risk. Read More

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Identification of Rpd3 as a novel epigenetic regulator of Drosophila FIG 4, a Charcot-Marie-Tooth disease-causing gene.

Neuroreport 2021 Apr 12. Epub 2021 Apr 12.

Department of Applied Biology Advanced Insect Research Promotion Center, Kyoto Institute of Technology, Matsugasaki, Sakyo-ku, Kyoto Department of Biological Sciences, Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Yokohama Kansai Gakken Laboratory, Kankyo Eisei Yakuhin Co. Ltd., Kyoto, Japan.

Mutations in the factor-induced-gene 4 (FIG 4) gene are associated with multiple disorders, including Charcot-Marie-Tooth disease (CMT), epilepsy with polymicrogyria, Yunis-Varón syndrome and amyotrophic lateral sclerosis. The wide spectrum of disorders associated with FIG 4 may be related to the dysregulated epigenetics. Using Gene Expression Omnibus, we found that HDAC1 binds to the FIG 4 gene locus in the genome of human CD4+ T cells. Read More

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The cumulative incidence of dysphagia and dysphagia-free survival in persons diagnosed with Amyotrophic Lateral Sclerosis.

Muscle Nerve 2021 Apr 13. Epub 2021 Apr 13.

Predictive Analytics and Comparative Effectiveness (PACE) Center, Institute for Clinical Research and Health Policy Studies, Clinical and Translational Sciences Institute Tufts Medical Center, Boston, Ma.

Introduction/aims: Dysphagia worsens mortality and quality of life for persons diagnosed with amyotrophic lateral sclerosis (ALS), yet our understanding of its incidence and timing remains limited. We sought to estimate dysphagia incidence and dysphagia-free survival over time.

Methods: Using data from the Pooled Resource Open-Access ALS Clinical Trials Database (PRO-ACT), we compared characteristics of persons with and without dysphagia upon study entry. Read More

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