Search results for "Demyelinating Disorders"

showing 4 items of 4 documents

MRI pattern recognition in multiple sclerosis normal-appearing brain areas

2011

ObjectiveHere, we use pattern-classification to investigate diagnostic information for multiple sclerosis (MS; relapsing-remitting type) in lesioned areas, areas of normal-appearing grey matter (NAGM), and normal-appearing white matter (NAWM) as measured by standard MR techniques.MethodsA lesion mapping was carried out by an experienced neurologist for Turbo Inversion Recovery Magnitude (TIRM) images of individual subjects. Combining this mapping with templates from a neuroanatomic atlas, the TIRM images were segmented into three areas of homogenous tissue types (Lesions, NAGM, and NAWM) after spatial standardization. For each area, a linear Support Vector Machine algorithm was used in mult…

AdultMalePathologymedicine.medical_specialtyMultiple SclerosisScienceNeuroimagingBiostatisticsGrey matterBiologycomputer.software_genreBrain mappingPattern Recognition Automated030218 nuclear medicine & medical imagingWhite matter03 medical and health sciences0302 clinical medicineText miningNeuroimagingVoxelImage Interpretation Computer-AssistedmedicineHumansMultidisciplinarymedicine.diagnostic_testbusiness.industryMultiple sclerosisStatisticsQRBrainMagnetic resonance imagingmedicine.diseaseDemyelinating DisordersMagnetic Resonance Imagingmedicine.anatomical_structureNeurologyCase-Control StudiesMedicineFemalebusinesscomputerCartographyMathematics030217 neurology & neurosurgeryResearch Article
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Neuroinflammation by cytotoxic T-lymphocytes impairs retrograde axonal transport in an oligodendrocyte mutant mouse.

2012

Mice overexpressing proteolipid protein (PLP) develop a leukodystrophy-like disease involving cytotoxic, CD8+ T-lymphocytes. Here we show that these cytotoxic T-lymphocytes perturb retrograde axonal transport. Using fluorogold stereotactically injected into the colliculus superior, we found that PLP overexpression in oligodendrocytes led to significantly reduced retrograde axonal transport in retina ganglion cell axons. We also observed an accumulation of mitochondria in the juxtaparanodal axonal swellings, indicative for a disturbed axonal transport. PLP overexpression in the absence of T-lymphocytes rescued retrograde axonal transport defects and abolished axonal swellings. Bone marrow tr…

Retinal Ganglion CellsProteolipid protein 1MouseCD8-Positive T-LymphocytesGranzymesMyelinMiceBone Marrow TransplantationNeuronsddc:616MultidisciplinarybiologyQRNeurodegenerative DiseasesAnimal ModelsCell biologyOligodendrogliamedicine.anatomical_structureNeurologyMedicineResearch ArticleHeterozygoteMultiple SclerosisProteolipidsScienceImmunologyMice Transgenicchemical and pharmacologic phenomenaAutoimmune DiseasesModel OrganismsmedicineAnimalsBiologyNeuroinflammationInflammationImmunityDemyelinating DisordersOligodendrocyteAxonsGranzyme BPerforinGranzymenervous systemImmune SystemImmunologyMutationAxoplasmic transportbiology.proteinClinical ImmunologyMolecular NeuroscienceT-Lymphocytes CytotoxicNeurosciencePLoS ONE
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The Relationship between Gray Matter Quantitative MRI and Disability in Secondary Progressive Multiple Sclerosis

2016

Purpose: In secondary progressive Multiple Sclerosis (SPMS), global neurodegeneration as a driver of disability gains importance in comparison to focal inflammatory processes. However, clinical MRI does not visualize changes of tissue composition outside MS lesions. This quantitative MRI (qMRI) study investigated cortical and deep gray matter (GM) proton density (PD) values and T1 relaxation times to explore their potential to assess neuronal damage and its relationship to clinical disability in SPMS. Materials and Methods: 11 SPMS patients underwent quantitative T1 and PD mapping. Parameter values across the cerebral cortex and deep GM structures were compared with 11 healthy controls, and…

Central Nervous SystemMalePathologyPhysiologylcsh:MedicinePathology and Laboratory MedicineNervous SystemBrain mappingDiagnostic Radiology030218 nuclear medicine & medical imaging0302 clinical medicineThalamusMedicine and Health SciencesRelaxation TimeMedicineGray Matterlcsh:ScienceCerebrospinal FluidCerebral CortexMultidisciplinarymedicine.diagnostic_testRadiology and ImagingPhysicsPutamenNeurodegenerationBrainNeurodegenerative DiseasesMultiple Sclerosis Chronic ProgressiveMagnetic Resonance ImagingBody Fluidsmedicine.anatomical_structureNeurologyCerebral cortexPhysical SciencesFemaleAnatomyResearch ArticleAdultmedicine.medical_specialtyMultiple SclerosisImaging TechniquesImmunologyCentral nervous systemThalamusResearch and Analysis MethodsAutoimmune Diseases03 medical and health sciencesSigns and SymptomsDiagnostic MedicineIntellectual DisabilityHumansddc:610Relaxation (Physics)business.industryMultiple sclerosislcsh:RBiology and Life SciencesMagnetic resonance imagingmedicine.diseaseDemyelinating DisordersCase-Control StudiesLesionslcsh:QClinical ImmunologyClinical Medicinebusiness030217 neurology & neurosurgeryPLOS ONE
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DeepWAS: Multivariate genotype-phenotype associations by directly integrating regulatory information using deep learning

2020

Genome-wide association studies (GWAS) identify genetic variants associated with traits or diseases. GWAS never directly link variants to regulatory mechanisms. Instead, the functional annotation of variants is typically inferred by post hoc analyses. A specific class of deep learning-based methods allows for the prediction of regulatory effects per variant on several cell type-specific chromatin features. We here describe “DeepWAS”, a new approach that integrates these regulatory effect predictions of single variants into a multivariate GWAS setting. Thereby, single variants associated with a trait or disease are directly coupled to their impact on a chromatin feature in a cell type. Up to…

0301 basic medicineMultivariate analysisGene ExpressionGenome-wide association studyBiochemistry0302 clinical medicineGenotypeMedicine and Health SciencesBiology (General)0303 health sciencesDNA methylationEcologyChromosome BiologyNeurodegenerative DiseasesGenomicsChromatinChromatinNucleic acidsNeurologyComputational Theory and MathematicsModeling and SimulationDNA methylationTraitEpigeneticsDNA modificationFunction and Dysfunction of the Nervous SystemChromatin modificationResearch ArticleMultiple SclerosisQH301-705.5Quantitative Trait LociImmunologySingle-nucleotide polymorphismComputational biologyBiologyQuantitative trait locusPolymorphism Single NucleotideAutoimmune DiseasesMolecular Genetics03 medical and health sciencesCellular and Molecular NeuroscienceDeep LearningGenome-Wide Association StudiesGeneticsHumansGeneMolecular BiologyGenetic Association StudiesEcology Evolution Behavior and Systematics030304 developmental biologyGenetic associationBiology and Life SciencesComputational BiologyHuman GeneticsCell BiologyDNAGenome AnalysisDemyelinating Disorders030104 developmental biologyGenetic LociMultivariate AnalysisClinical ImmunologyClinical Medicine030217 neurology & neurosurgeryGenome-Wide Association StudyPLOS Computational Biology
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