Search results for "Motor Neuron"

showing 10 items of 140 documents

Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome

2021

6 páginas, 2 figuras

Pathologymedicine.medical_specialtyNeurosciences. Biological psychiatry. NeuropsychiatryDiseasePSEN1 mutationPresenilinCellular and Molecular NeuroscienceCerebrospinal fluidPSEN1MedicineFamily historyAmyotrophic lateral sclerosisMolecular BiologyPrimary Lateral Sclerosisbusiness.industryUpper motor neuronBrief Research ReportAlzheimer's diseasemedicine.diseasemedicine.anatomical_structuremotor neuron diseaseprimary lateral sclerosisprogressive spastic paraparesisbusinessAlzheimer’s diseaseNeuroscienceRC321-571
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Chapter 35 Transcranial magnetic stimulation in brainstem lesions and lesions of the cranial nerves

2003

Publisher Summary This chapter focuses on transcranial magnetic stimulation (TMS) applications in brainstem pathology and on the description of TMS techniques for the evaluation of motor cranial nerve function, which is an essential measure in the diagnostic workup of brain-stern lesions. Applications of TMS to the cranial nerve innervated muscles have been the objective of numerous investigations, ranging from basic neuroanatomic studies to determine the central course of corticonuclear projections to clinical applications carried out to determine the location of lesions, investigate the pathophysiology of ischemic dysarthria, detect clinically silent lesions in multiple sclerosis, obtain …

Pathologymedicine.medical_specialtybusiness.industrymedicine.medical_treatmentCranial nervesAnatomyMotor neuronmedicine.diseaseFacial nerveFacial paralysisTranscranial magnetic stimulationDysarthriamedicine.anatomical_structureCranial Nerve InjuryHypoglossal Nerve Diseasesmedicinemedicine.symptombusiness
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Early Referral to an ALS Center Reduces Several Months the Diagnostic Delay: A Multicenter-Based Study.

2020

Objective: To analyze those factors contributing to the diagnostic delay in ALS.Methods: Consecutive ALS patients were categorized as those studied in departmental hospitals and those studied in a referral ALS center. Demographic and clinical variables, together with data of the diagnostic pathway were collected. Multivariable models were used to assess their effect in the time between symptoms onset and the first neurologist visit (time symptoms-neurologist), in the time between the first neurologist visit and the diagnosis (time neurologist-diagnosis) and in the diagnostic delay.Results: 166 ALS patients with a median diagnostic delay of 11.53 months (IQR: 6.68, 15.23) were included. The …

Pediatricsmedicine.medical_specialtyamyotrophic lateral sclerosisALS UnitClinical variablesReferrallcsh:RC346-42903 medical and health sciences0302 clinical medicinemental disordersmedicine030212 general & internal medicineAmyotrophic lateral sclerosislcsh:Neurology. Diseases of the nervous systemOriginal Researchdiagnostic timelinesbusiness.industryUpper motor neuronmedicine.diseasediagnostic delaynervous system diseasesdiagnostic pathwaymedicine.anatomical_structureNeurologyReferral centerBulbar onsetProgression rateNeurology (clinical)business030217 neurology & neurosurgeryEarly referralFrontiers in neurology
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Primary lateral sclerosis and hereditary spastic paraplegia in sporadic patients. An important distinction in descriptive studies.

2016

Abstract Differentiating between primary lateral sclerosis and apparently sporadic hereditary spastic paraplegia patients is an important but difficult issue in transversal studies. Consequently, these patients have been indistinctly classified as primary lateral sclerosis or sporadic HSP in different publications, further contributing to the confusion between both diseases. In our opinion, Schule et al have not reliably excluded PLS in their cohort of simplex HSP, what could affect their reported results. We think that a clearer distinction should be made between both diseases and we propose new definitions and criteria to facilitate this differentiation. This article is protected by copyr…

Pediatricsmedicine.medical_specialtybusiness.industryHereditary spastic paraplegiaSpastic Paraplegia Hereditarymedicine.disease03 medical and health sciences0302 clinical medicineNeurologyCohortPhysical therapyMedicineHumans030212 general & internal medicineNeurology (clinical)medicine.symptomAmyotrophic lateral sclerosisMotor Neuron Diseasebusiness030217 neurology & neurosurgeryConfusionPrimary Lateral SclerosisAnnals of neurology
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BAG3 mediates chaperone-based aggresome-targeting and selective autophagy of misfolded proteins.

2010

Increasing evidence indicates the existence of selective autophagy pathways, but the manner in which substrates are recognized and targeted to the autophagy system is poorly understood. One strategy is transport of a particular substrate to the aggresome, a perinuclear compartment with high autophagic activity. In this paper, we identify a new cellular pathway that uses the specificity of heat-shock protein 70 (Hsp70) to misfolded proteins as the basis for aggresome-targeting and autophagic degradation. This pathway is regulated by the stress-induced co-chaperone Bcl-2-associated athanogene 3 (BAG3), which interacts with the microtubule-motor dynein and selectively directs Hsp70 substrates …

Protein FoldingRecombinant Fusion ProteinsDyneinGreen Fluorescent ProteinsAggrephagyMice TransgenicBAG3BiochemistryMiceJUNQ and IPODChlorocebus aethiopsGeneticsAutophagyAnimalsHumansPoint MutationHSP70 Heat-Shock ProteinsMolecular BiologyAdaptor Proteins Signal TransducingSequence DeletionInclusion BodiesMotor NeuronsbiologySuperoxide DismutaseAutophagyScientific ReportsDyneinsTransport proteinCell biologyProtein TransportAggresomeHEK293 CellsSpinal CordChaperone (protein)COS Cellsbiology.proteinApoptosis Regulatory ProteinsProteasome InhibitorsEMBO reports
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Home Mechanical Ventilation in Amyotrophic Lateral Sclerosis Patients Is Not Always a Problem

2000

Pulmonary and Respiratory MedicineMechanical ventilationmedicine.medical_specialtybusiness.industrymedicine.medical_treatmentMasksCritical Care and Intensive Care Medicinemedicine.diseaseHome Care ServicesPositive-Pressure RespirationTracheostomyPhysical medicine and rehabilitationQuality of LifemedicineHumansMotor Neuron DiseaseAmyotrophic lateral sclerosisCardiology and Cardiovascular MedicinebusinessChest
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Unstable control of breathing can lead to ineffective noninvasive ventilation in amyotrophic lateral sclerosis

2019

Upper airway obstruction with decreased central drive (ODCD) is one of the causes of ineffective noninvasive ventilation (NIV) in amyotrophic lateral sclerosis (ALS). The aim of this study is to determine the mechanism responsible for ODCD in ALS patients using NIV. This is a prospective study that included ALS patients with home NIV. Severity of bulbar dysfunction was assessed with the Norris scale bulbar subscore; data on upper or lower bulbar motor neuron predominant dysfunction on physical examination were collected. Polysomnography was performed on every patient while using NIV and the ODCD index (ODCDI: number of ODCD events/total sleep time) was calculated. To determine the possible …

Pulmonary and Respiratory Medicinemedicine.medical_specialty8lcsh:MedicinePolysomnography03 medical and health sciences0302 clinical medicineInternal medicineHyperventilationMedicineAmyotrophic lateral sclerosismedicine.diagnostic_testbusiness.industryUpper motor neuronlcsh:ROriginal Research LetterMotor neuronAirway obstructionmedicine.diseasemedicine.anatomical_structure030228 respiratory systemControl of respirationCardiologymedicine.symptombusinessAirway030217 neurology & neurosurgeryERJ Open Research
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The CB1Cannabinoid Receptor Drives Corticospinal Motor Neuron Differentiation through the Ctip2/Satb2 Transcriptional Regulation Axis

2012

The generation and specification of pyramidal neuron subpopulations during development relies on a complex network of transcription factors. The CB1cannabinoid receptor is the major molecular target of endocannabinoids and marijuana active compounds. This receptor has been shown to influence neural progenitor proliferation and axonal growth, but its involvement in neuronal differentiation and the functional impact in the adulthood caused by altering its signaling during brain development are not known. Here we show that the CB1receptor, by preventing Satb2 (special AT-rich binding protein 2)-mediated repression, increased Ctip2 (COUP-TF interacting protein 2) promoter activity, and Ctip2-po…

Pyramidal tractsCannabinoid receptorGeneral Neurosciencemedicine.medical_treatmentCellular differentiationBiologyMotor neuronEndocannabinoid systemArticleGlutamatergicmedicine.anatomical_structurenervous systemCorticospinal tractmedicinelipids (amino acids peptides and proteins)CannabinoidNeuroscienceThe Journal of Neuroscience
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IqYmune® is an effective maintenance treatment for multifocal motor neuropathy: A randomised, double‐blind, multi‐center cross‐over non‐inferiority s…

2018

Intravenous immunoglobulin (IVIg) is the gold-standard for maintenance treatment of multifocal motor neuropathy (MMN). This phase III, randomised, double-blind, multi-centre, active-control, crossover study, aimed to evaluate the non-inferiority of IqYmune® relative to Kiovig®, primarily based on efficacy criteria. Twenty-two adult MMN patients, treated with any brand of IVIg (except Kiovig® or IqYmune®) at a stable maintenance dose within the range of 1 to 2 g/kg every 4 to 8 weeks, were randomised to receive either Kiovig® followed by IqYmune®, or IqYmune® followed by Kiovig®. Each product was administered for 24 weeks. The primary endpoint was the difference between IqYmune® and Kiovig® …

Research ReportIVIgAdultMalemedicine.medical_specialtymultifocal motor neuropathyEquivalence Trials as Topiclaw.invention03 medical and health sciences0302 clinical medicineRandomized controlled trialDouble-Blind MethodlawInternal medicineOutcome Assessment Health CaremedicineClinical endpointHumansImmunologic FactorsMotor Neuron DiseaseAgedCross-Over StudiesMaintenance dosebusiness.industryGeneral NeuroscienceImmunoglobulins IntravenousResearch Reportsclinical trialMiddle AgedHaemolysismedicine.diseaseCrossover studyConfidence intervalTolerability030220 oncology & carcinogenesisFemaleNeurology (clinical)businessimmunoglobulin030217 neurology & neurosurgeryMultifocal motor neuropathyJournal of the Peripheral Nervous System
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Subventricular zone in motor neuron disease with frontotemporal dementia.

2011

Investigate how the subventricular proliferation and organisation is modified in a patient with FTLD-ALS. We studied the subventricular zone (SVZ) of a patient with FTLD-ALS immunohistochemical and histologically. We found an increase of Ki-67 positive cells and neuroblast in the subventricular zone, suggesting an activation of proliferating activity in response to FTD-ALS. This proliferation can act as a compensatory mechanism for rapid neuronal death and its modulation could provide a new therapeutic pathway in ALS. These results suggest a modification of neurogenesis in FTD-ALS. (C) 2011 Elsevier Ireland Ltd. All rights reserved.

TelencephalonSubventricular zoneanimal diseasesNeurogenesisSubventricular zoneBiologyFrontotemporal lobar degenerationNeuroblastNeural Stem Cellsmental disordersmedicineHumansMotor neuron diseaseAmyotrophic lateral sclerosisMotor Neuron DiseaseAgedGeneral NeuroscienceNeurogenesisAmyotrophic Lateral Sclerosisnutritional and metabolic diseasesFrontotemporal lobar degenerationMotor neuronmedicine.diseaseNeural stem cellnervous system diseasesmedicine.anatomical_structurenervous systemFrontotemporal DementiaNerve DegenerationFemaleAmyotrophic lateral SclerosisNeuroscienceFrontotemporal dementiaNeuroscience letters
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