Search results for "Amyotrophic lateral Sclerosis"

showing 10 items of 228 documents

Clinical and neuroimaging characterization of two C9orf72-positive siblings with amyotrophic lateral sclerosis and schizophrenia

2015

C9orf72 expansion is the main genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) and has also been found in a wide spectrum of other neurodegenerative diseases (...

0301 basic medicineNeuroimaging03 medical and health sciences0302 clinical medicineNeuroimagingC9orf72mental disordersHumansMedicineAmyotrophic lateral sclerosisC9orf72 Proteinbusiness.industrySiblingsAmyotrophic Lateral SclerosisProteinsMiddle Agedmedicine.diseaseC9orf72 Protein030104 developmental biologyNeurologySchizophreniaMutationMutation (genetic algorithm)SchizophreniaFemaleNeurology (clinical)businessNeuroscience030217 neurology & neurosurgeryFrontotemporal dementiaAmyotrophic Lateral Sclerosis and Frontotemporal Degeneration
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Protein misfolding, amyotrophic lateral sclerosis and guanabenz: Protocol for a phase II RCT with futility design (ProMISe trial)

2017

IntroductionRecent studies suggest that endoplasmic reticulum stress may play a critical role in the pathogenesis of amyotrophic lateral sclerosis (ALS) through an altered regulation of the proteostasis, the cellular pathway-balancing protein synthesis and degradation. A key mechanism is thought to be the dephosphorylation of eIF2α, a factor involved in the initiation of protein translation. Guanabenz is an alpha-2-adrenergic receptor agonist safely used in past to treat mild hypertension and is now an orphan drug. A pharmacological action recently discovered is its ability to modulate the synthesis of proteins by the activation of translational factors preventing misfolded protein accumula…

0301 basic medicineOncologyPathologyamyotrophic lateral sclerosisamyotrophic lateral sclerosis; motor neurone disease; neuromuscular disease; randomized clinical trial guanabenz; unfolded protein response; adrenergic alpha-2 receptor agonist s; age of onset; amyotrophic lateral sclerosis; disease progression; double-blind method; endoplasmic reticulum stress; guanabenz; humans; italy; medical futility; neuroprotective agents; proteostasis deficienciesamyotrophic lateral sclerosis; motor neurone disease; neuromuscular disease; randomized clinical trial guanabenz; unfolded protein response; Medicine (all)randomized clinical trial guanabenzHelsinki declaration0302 clinical medicineProtocolAdrenergic alpha-2 Receptor Agonists1506Amyotrophic lateral sclerosisAge of OnsetGuanabenzMedicine (all)amyotrophic lateral sclerosis; motor neurone disease; neuromuscular disease; randomized clinical trial guanabenz; unfolded protein responseNeurodegenerationamyotrophic lateral sclerosis; motor neurone disease; neuromuscular disease; randomized clinical trial guanabenz; unfolded protein response;amyotrophic lateral sclerosis; guanabenz; motor neurone disease; neuromuscular disease; randomized clinical trial; unfolded protein response; Adrenergic alpha-2 Receptor Agonists; Age of Onset; Amyotrophic Lateral Sclerosis; Disease Progression; Double-Blind Method; Endoplasmic Reticulum Stress; Guanabenz; Humans; Italy; Medical Futility; Neuroprotective Agents; Proteostasis DeficienciesGeneral Medicineunfolded protein responseEndoplasmic Reticulum StressRiluzoleNeuroprotective AgentsNeurologyTolerabilityItalyDisease Progression1713GuanabenzMedical Futilitymedicine.drugmedicine.medical_specialtyamyotrophic lateral sclerosis; motor neurone disease; neuromuscular disease; randomized clinical trial guanabenz; unfolded protein response; Adrenergic alpha-2 Receptor Agonists; Age of Onset; Amyotrophic Lateral Sclerosis; Disease Progression; Double-Blind Method; Endoplasmic Reticulum Stress; Guanabenz; Humans; Italy; Medical Futility; Neuroprotective Agents; Proteostasis Deficiencies; Medicine (all)Neuroprotection03 medical and health sciencesmotor neurone diseaseDouble-Blind MethodInternal medicinemedicineHumansProteostasis Deficienciesbusiness.industryAmbientaleneuromuscular diseaserandomized clinical trialmedicine.diseaseClinical trial030104 developmental biologybusiness030217 neurology & neurosurgery
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An update on intracerebral stem cell grafts.

2018

Introduction: Primary neurological disorders are notoriously debilitating and deadly, and over the past four decades stem cell therapy has emerged as a promising treatment. Translation of stem cell therapies from the bench to the clinic requires a better understanding of delivery protocols, safety profile, and efficacy in each disease. Areas covered: In this review, benefits and risks of intracerebral stem cell transplantation are presented for consideration. Milestone discoveries in stem cell applications are reviewed to examine the efficacy and safety of intracerebral stem cell transplant therapy for disorders of the central nervous system and inform design of translatable protocols for c…

0301 basic medicineOncologymedicine.medical_specialtyParkinson's diseaseTraumatic brain injurymedicine.medical_treatmentmulti-system atrophyNeuroprotection03 medical and health sciencesGraft vs Host Reaction0302 clinical medicineHuntington's diseaseCentral Nervous System DiseasesRisk FactorsInternal medicineMedicineAnimalsHumansPharmacology (medical)amyotrophic lateral sclerosiAmyotrophic lateral sclerosisStem cellbusiness.industryGeneral NeuroscienceMultiple sclerosistraumatic brain injuryStem-cell therapymedicine.diseasestroke030104 developmental biologyBlood-Brain Barriermultiple sclerosiParkinson’s diseaseneuroprotectionNeurology (clinical)Stem cellbusiness030217 neurology & neurosurgeryHuntington’s diseaseStem Cell TransplantationExpert review of neurotherapeutics
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A longitudinal DTI and histological study of the spinal cord reveals early pathological alterations in G93A-SOD1 mouse model of amyotrophic lateral s…

2017

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by selective motor neuron degeneration in the motor cortex, brainstem and spinal cord. It is generally accepted that ALS is caused by death of motor neurons, however the exact temporal cascade of degenerative processes is not yet completely known. To identify the early pathological changes in spinal cord of G93A-SOD1 AIS mice we performed a comprehensive longitudinal analysis employing diffusion-tensor magnetic resonance imaging alongside histology and electron microscopy, in parallel with peripheral nerve histology. We showed the gradient of degeneration appearance in spinal cord white and gray matter, startin…

0301 basic medicinePathologyNeurologyTime FactorsMotor neuron diseasesSensory Receptor CellMice0302 clinical medicineImage Processing Computer-AssistedAxonAmyotrophic lateral sclerosisGray MatterAnthracenesWhite MatterMitochondriamedicine.anatomical_structureDiffusion Tensor ImagingNeurologySpinal CordG93A-SOD1 miceBrainstemHumanMotor cortexmedicine.medical_specialtyAxon degenerationTime FactorSensory Receptor CellsSOD1Mice TransgenicWhite matter03 medical and health sciencesMagnetic resonance imagingDevelopmental NeuroscienceMicroscopy Electron TransmissionmedicineElectron microscopyAnimalsHumansMotor neuron diseaseAmyotrophic lateral sclerosiAnimalbusiness.industrySuperoxide DismutaseAmyotrophic Lateral SclerosisSpinal cordmedicine.diseaseAmyotrophic lateral sclerosisMice Inbred C57BLDisease Models Animal030104 developmental biologyAnthracenebusinessNeuroscience030217 neurology & neurosurgeryExperimental neurology
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Amyotrophic Lateral Sclerosis, a Multisystem Pathology: Insights into the Role of TNFα

2017

Amyotrophic lateral sclerosis (ALS) is considered a multifactorial, multisystem disease in which inflammation and the immune system play important roles in development and progression. The pleiotropic cytokine TNFαis one of the major players governing the inflammation in the central nervous system and peripheral districts such as the neuromuscular and immune system. Changes in TNFαlevels are reported in blood, cerebrospinal fluid, and nerve tissues of ALS patients and animal models. However, whether they play a detrimental or protective role on the disease progression is still not clear. Our group and others have recently reported opposite involvements of TNFR1 and TNFR2 in motor neuron dea…

0301 basic medicinePathologymedicine.medical_specialtyAmyotrophic Lateral Sclerosis; Animals; Humans; Motor Neurons; T-Lymphocytes Regulatory; Tumor Necrosis Factor-alphamedicine.medical_treatmentT-LymphocytesCentral nervous systemImmunologyAmyotrophic lateral sclerosis inflammation TNFαInflammationReview ArticleT-Lymphocytes Regulatory03 medical and health sciences0302 clinical medicineImmune systemCerebrospinal fluidImmunology; Cell BiologyTNFαlcsh:PathologyMedicineAnimalsHumansAmyotrophic lateral sclerosisMotor Neuronsbusiness.industryTumor Necrosis Factor-alphaAmyotrophic Lateral SclerosisCell BiologyMotor neuronmedicine.diseaseRegulatory3. Good health030104 developmental biologymedicine.anatomical_structureCytokineinflammationImmunologyTumor necrosis factor alphamedicine.symptombusiness030217 neurology & neurosurgerylcsh:RB1-214
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Acute onset of bulbar amyotrophic lateral sclerosis after flu – look at the differential diagnosis: A case report

2018

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting upper and lower motor neurones. It can be either familial (fALS) or sporadic (sALS). ALS is characterized by muscle weakness and atrophy that can involve the limbs and trunk (i.e. the spinal form of the disease) or speech and swallowing (i.e. the bulbar form). The aetiology of sALS remains unclear although a gene–environment interaction has been proposed as a concomitant trigger for the neurodegenerative process together with viral infections, smoking, heavy metals and pesticide exposure. Herein, we report the case of a 67-year-old woman who experienced an acute onset of bulbar ALS with an atypical clinical cours…

0301 basic medicinePathologymedicine.medical_specialtyMedicine (General)DiseaseCase Reportsacute onsetBiochemistryDiagnosis Differential03 medical and health sciences0302 clinical medicineAtrophyR5-920Swallowingsporadic amyotrophic lateral sclerosisDiagnosisdifferential diagnosisInfluenza HumanMedicineHumansAmyotrophic lateral sclerosisAgedbulbar amyotrophic lateral sclerosisbusiness.industryBiochemistry (medical)Amyotrophic Lateral SclerosisMuscle weaknessCell BiologyGeneral Medicinemedicine.diseaseTrunkInfluenza030104 developmental biologyDifferentialAcute DiseaseEtiologyFamilial amyotrophic lateral sclerosisFemaleacute onset; bulbar amyotrophic lateral sclerosis; differential diagnosis; Familial amyotrophic lateral sclerosis; sporadic amyotrophic lateral sclerosis; Acute Disease; Aged; Amyotrophic Lateral Sclerosis; Diagnosis Differential; Female; Humans; Influenza HumanDifferential diagnosismedicine.symptombusiness030217 neurology & neurosurgeryHumanJournal of International Medical Research
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Beyond the Transport Function of Import Receptors: What’s All the FUS about?

2018

Nuclear import receptors are central players in transporting protein cargoes into the nucleus. Moving beyond this role, four newly published articles describe a function in regulating supramolecular assemblies by fine-tuning the phase separating properties of RNA-binding proteins, which has implications for a variety of devastating neurodegenerative disorders.

0301 basic medicineProteomeActive Transport Cell NucleusReceptors Cytoplasmic and NuclearBiologyKaryopherinsModels BiologicalGeneral Biochemistry Genetics and Molecular BiologyArticle03 medical and health sciencesmedicineAnimalsHumansReceptorRNA metabolismCell NucleusAmyotrophic Lateral SclerosisRNA-Binding ProteinsNeurodegenerative Diseases3. Good healthCell biologyDNA-Binding ProteinsCell nucleus030104 developmental biologymedicine.anatomical_structureRNARNA-Binding Protein FUSNuclear transportNucleusFunction (biology)Cell
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Changes in Serine Racemase-Dependent Modulation of NMDA Receptor: Impact on Physiological and Pathological Brain Aging

2018

International audience; The N-methyl-D-Aspartate glutamate receptors (NMDARs) are pivotal for the functional and morphological plasticity that are required in neuronal networks for efficient brain activities and notably for cognitive-related abilities. Because NMDARs are heterogeneous in subunit composition and associated with multiple functional regulatory sites, their efficacy is under the tonic influence of numerous allosteric modulations, whose dysfunction generally represents the first step generating pathological states. Among the enzymatic candidates, serine racemase (SR) has recently gathered an increasing interest considering that it tightly regulates the production of D-serine, an…

0301 basic medicine[SDV]Life Sciences [q-bio]Allosteric regulation[SHS.PSY]Humanities and Social Sciences/PsychologyglutamateDiseaseReviewBiologyBiochemistry Genetics and Molecular Biology (miscellaneous)BiochemistryNMDA receptors[SHS.PSY] Humanities and Social Sciences/Psychology03 medical and health sciences0302 clinical medicineserine racemasemedicineMolecular BiosciencesAmyotrophic lateral sclerosislong term potentiationMolecular BiologyPathologicallcsh:QH301-705.5ComputingMilieux_MISCELLANEOUS[SCCO.NEUR]Cognitive science/Neuroscience[SCCO.NEUR] Cognitive science/NeuroscienceagingGlutamate receptorLong-term potentiationAlzheimer's diseasemedicine.diseaseMESH: NMDA receptors serine racemase aging Alzheimer’s disease D-serine long term potentiation glutamate[SDV] Life Sciences [q-bio]030104 developmental biologylcsh:Biology (General)d-serineSerine racemaseNMDA receptor[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Neuroscience030217 neurology & neurosurgeryFrontiers in Molecular Biosciences
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Hypothesis: Etiologic and Molecular Mechanistic Leads for Sporadic Neurodegenerative Diseases Based on Experience With Western Pacific ALS/PDC

2019

Seventy years of research on Western Pacific amyotrophic lateral sclerosis and Parkinsonism-dementia Complex (ALS/PDC) have provided invaluable data on the etiology, molecular pathogenesis and latency of this disappearing, largely environmental neurodegenerative disease. ALS/PDC is linked to genotoxic chemicals (notably methylazoxymethanol, MAM) derived from seed of the cycad plant (Cycas spp.) that were used as a traditional food and/or medicine in all three disease-affected Western Pacific populations. MAM, nitrosamines and hydrazines generate methyl free radicals that damage DNA (in the form of O6-methylguanine lesions) that can induce mutations in cycling cells and degenerative changes …

0301 basic medicineamyotrophic lateral sclerosisDNA damageDiseaseBiologylcsh:RC346-429Environmental - originProgressive supranuclear palsy03 medical and health sciences0302 clinical medicineHypothesis and TheorymedicinenitrosaminesAmyotrophic lateral sclerosislcsh:Neurology. Diseases of the nervous systemhydrazinesprogressive supranuclear palsymedicine.diseaseatypical parkinsonism030104 developmental biologyBrain degenerationNeurologyImmunologyEtiologycycad methylazoxymethanol and L-BMAADNA damageNeurology (clinical)Alzheimer's diseaseAlzheimer disease030217 neurology & neurosurgeryFrontiers in Neurology
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The Impact of Microbiota on the Pathogenesis of Amyotrophic Lateral Sclerosis and the Possible Benefits of Polyphenols. An Overview

2021

The relationship between gut microbiota and neurodegenerative diseases is becoming clearer. Among said diseases amyotrophic lateral sclerosis (ALS) stands out due to its severity and, as with other chronic pathologies that cause neurodegeneration, gut microbiota could play a fundamental role in its pathogenesis. Therefore, polyphenols could be a therapeutic alternative due to their anti-inflammatory action and probiotic effect. Thus, the objective of our narrative review was to identify those bacteria that could have connection with the mentioned disease (ALS) and to analyze the benefits produced by administering polyphenols. Therefore, an extensive search was carried out selecting the most…

0301 basic medicineamyotrophic lateral sclerosisEndocrinology Diabetes and Metabolismlcsh:QR1-502ReviewDiseaseGut floraBioinformaticsBiochemistrylcsh:MicrobiologyPathogenesis03 medical and health sciences0302 clinical medicineLactobacillusmicrobiotaMedicineAmyotrophic lateral sclerosisMolecular BiologypolyphenolsBifidobacteriumbiologybusiness.industryNeurodegenerationfood and beveragesmedicine.diseasebiology.organism_classification030104 developmental biologybusiness030217 neurology & neurosurgeryAkkermansia muciniphilaMetabolites
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