0000000000068667

AUTHOR

Angela Deutschländer

showing 11 related works from this author

TPP2 mutation associated with sterile brain inflammation mimicking MS

2018

ObjectiveTo ascertain the genetic cause of a consanguineous family from Syria suffering from a sterile brain inflammation mimicking a mild nonprogressive form of MS.MethodsWe used homozygosity mapping and next-generation sequencing to detect the disease-causing gene in the affected siblings. In addition, we performed RNA and protein expression studies, enzymatic activity assays, immunohistochemistry, and targeted sequencing of further MS cases from Austria, Germany, Canada and Jordan.ResultsIn this study, we describe the identification of a homozygous missense mutation (c.82T>G, p.Cys28Gly) in the tripeptidyl peptidase II (TPP2) gene in all 3 affected siblings of the family. Sequencing o…

0301 basic medicine41132medicine.disease_causeMajor histocompatibility complexArticle03 medical and health sciencesExon0302 clinical medicineGene expressionmedicineMissense mutationGeneGenetics (clinical)Medicinsk genetikMutationbiologyTripeptidyl peptidase IIDisease gene identificationMolecular biology3. Good health030104 developmental biologybiology.proteinNeurology (clinical)Medical Genetics030217 neurology & neurosurgeryNeurology Genetics
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Expectation of sensory stimulation modulates brain activation during visual motion stimulation.

2005

The differential effects of visual hemifield motion stimulation during fixation of a stationary target were compared under two conditions: fixation straight ahead without any further instructions and fixation straight ahead with attention shifted to the "dark hemifield." Data from nine right-handed volunteers revealed that striate and extrastriate right hemispheric visual areas exhibited larger activations during left hemifield motion stimulation when attention was shifted to the right dark hemifield. Montreal Neurological Institute (MNI) coordinates (26, -98, -4) of the additional clusters activated in the latter condition corresponded best to the kinetic occipital region, which is known t…

Brain activationAdultMalegenetic structuresModels NeurologicalMotion PerceptionStimulationFixation OcularNeural populationGeneral Biochemistry Genetics and Molecular BiologyFunctional LateralityHistory and Philosophy of ScienceReference ValuesPhysical StimulationHumansMotion perceptionCommunicationBrain MappingSensory stimulation therapybusiness.industryGeneral NeuroscienceBrainMiddle AgedVisual motionStraight aheadPositron-Emission TomographyFixation (visual)Visual PerceptionFemaleVisual FieldsPsychologybusinessNeurosciencePhotic StimulationAnnals of the New York Academy of Sciences
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Eyes open and eyes closed as rest conditions: impact on brain activation patterns

2003

The patterns of associated brain activations during eyes-open and eyes-closed states in complete darkness considerably differ in fMRI. An "interoceptive" state with the eyes closed is characterized by visual cortex activation, while an "exteroceptive" state with the eyes open is characterized by ocular motor system activity. The impact of the chosen rest condition (eyes open or eyes closed in complete darkness) on the pattern of brain activations during visual stimulation was evaluated in 14 healthy volunteers. During fixation or dim light room illumination, the activation of the visual cortex was larger with the eyes-open rest condition than with the eyes-closed rest condition; however, ac…

AdultMaleAdolescentEye Movementsgenetic structuresRestCognitive NeuroscienceThalamusSensory systemFixation OcularLateral geniculate nucleusSomatosensory systemReference ValuesImage Interpretation Computer-AssistedmedicineHumansVisual PathwaysDominance CerebralPrefrontal cortexVision OcularVisual CortexBrain MappingBrainGeniculate BodiesAnatomyFrontal eye fieldsImage EnhancementMagnetic Resonance Imagingeye diseasesOxygenVisual cortexmedicine.anatomical_structureNeurologyOculomotor MusclesFixation (visual)Femalesense organsSensory DeprivationArousalPsychologyNeuroscienceNeuroImage
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Imaging the visual autokinetic illusion with fMRI

2005

During fixation of a stationary, dim light-emitting diode (LED) in complete darkness, a subtle, apparent motion is perceived which is called autokinesis. This autokinetic illusion increases with increasing fixation time. Eleven healthy subjects were examined by fMRI while fixating an LED in darkness for 35 s. BOLD signal changes of the first and the second half of the fixation period were compared. While the stimulus was the same for both periods, perception differed in that autokinesis was more pronounced in the second half. This second half of the period was associated with bilateral activations in the motion-sensitive middle occipito-temporal area known as MT/V5. Our finding suggests tha…

AdultMalemedicine.medical_specialtygenetic structuresCognitive Neurosciencemedia_common.quotation_subjectMotion PerceptionFixation OcularFixation timeAudiologyStimulus (physiology)PerceptionImage Processing Computer-AssistedmedicineHumansBold fmrimedia_commonCommunicationAutokinetic effectbusiness.industryHealthy subjectsBrainMagnetoencephalographyIllusionsMagnetic Resonance ImagingOxygenNeurologyData Interpretation StatisticalDarknessFixation (visual)Femalesense organsbusinessPsychologyPhotic StimulationNeuroImage
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Sensory system interactions during simultaneous vestibular and visual stimulation in PET

2002

The patterns of regional cerebral blood flow (rCBF) increases and decreases in PET were compared for unimodal vestibular, unimodal visual, and for simultaneous vestibular and visual stimulation. Thirteen healthy volunteers were exposed to a) caloric vestibular stimulation, b) small-field visual motion stimulation in roll, c) simultaneous caloric vestibular and visual pattern stimulation. Unimodal vestibular stimulation led to activations of vestibular cortex areas, in particular the parieto-insular vestibular cortex (PIVC), and concurrent deactivations of visual cortical areas [Brodmann area (BA) 17-19]. Unimodal visual motion stimulation led to activations of the striate visual cortex and …

Vestibular systemgenetic structuresRadiological and Ultrasound TechnologyPhotic StimulationSensory systemVisual systemVestibular cortexVisual cortexmedicine.anatomical_structureNeurologyotorhinolaryngologic diseasesmedicineRadiology Nuclear Medicine and imagingsense organsNeurology (clinical)Motion perceptionAnatomyPsychologyNeuroscienceBrodmann areaHuman Brain Mapping
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Rollvection versus linearvection: Comparison of brain activations in PET

2004

We conducted a PET study to directly compare the differential effects of visual motion stimulation that induced either rollvection about the line of sight or forward linearvection along this axis in the same subjects. The main question was, whether the areas that respond to vection are identical or separate and distinct for rollvection and linearvection. Eleven healthy volunteers were exposed to large-field (100 degrees x 60 degrees ) visual motion stimulation consisting of (1) dots accelerating from a focus of expansion to the edge of the screen (forward linearvection) and (2) dots rotating counterclockwise in the frontal plane (clockwise rollvection). These two stimuli, which induced appa…

PhysicsVestibular systemgenetic structuresRadiological and Ultrasound TechnologyStimulationVestibular cortexCalcarine sulcusVisual cortexmedicine.anatomical_structureNeurologymedicineRadiology Nuclear Medicine and imagingNeurology (clinical)ClockwiseMotion perceptionAnatomyDepth perceptionNeuroscienceHuman Brain Mapping
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Immunosuppressive treatment in bilateral vestibulopathy with inner ear antibodies.

2005

Although vestibular recovery was observed after steroid treatment, it remains uncertain whether this improvement was spontaneous or due to medication. These data do not allow us to generally recommend corticosteroid treatment in patients with BVF and inner ear antibodies.A retrospective study was performed based on the observation of two patients with suspected autoimmune bilateral vestibular failure (BVF) with normal hearing and antilabyrinthine or nervous tissue-specific serum antibodies who showed vestibular recovery after corticosteroid treatment.Twelve patients with BVF and serum inner ear antibodies who had received imuunosuppressive treatment with corticosteroids were evaluated in te…

AdultMalemedicine.medical_specialtyFluorescent Antibody TechniqueEar diseaseMethylprednisoloneNystagmus PathologicAutoimmune Diseasesotorhinolaryngologic diseasesmedicineCaloric TestsAnimalsHumansMedical historyInner earGlucocorticoidsAgedAutoantibodiesRetrospective StudiesVestibular systemmedicine.diagnostic_testbusiness.industryElectronystagmographyAutoimmune inner ear diseaseGeneral MedicineReflex Vestibulo-OcularMiddle Agedmedicine.diseaseBilateral vestibulopathySurgeryRatsmedicine.anatomical_structureTreatment OutcomeOtorhinolaryngologyElectronystagmographyVestibular DiseasesAnesthesiaEar InnerImmunoglobulin GFemalesense organsVestibulo–ocular reflexbusinessFollow-Up StudiesActa oto-laryngologica
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Preserved visual-vestibular interaction in patients with bilateral vestibular failure

2004

Background: During caloric vestibular stimulation, subjects showed bilateral activation of the vestibular cortex in the posterior insula and retroinsular region as well as concurrent deactivation of visual cortex areas bilaterally. This finding was the basis for the concept of a reciprocal inhibitory interaction between the vestibular and the visual systems. Objective: To analyze the modulations of this activation and deactivation pattern in patients with loss of vestibular input, that is, in patients with bilateral vestibular failure (BVF). Methods: Modulations of regional cerebral blood flow (rCBF) in PET were measured in nine patients with BVF and compared with those in healthy volunteer…

AdultMalemedicine.medical_specialtyFeedback PsychologicalModels NeurologicalAudiologyStatistical parametric mappingNystagmus PathologicTemporal lobeParietal LobeCaloric Testsotorhinolaryngologic diseasesmedicineHumansAgedVisual CortexVestibular systemReflex AbnormalParietal lobeReflex Vestibulo-OcularMiddle AgedVestibular cortexTemporal LobeVisual cortexmedicine.anatomical_structureVestibular DiseasesCerebrovascular CirculationPositron-Emission TomographySubtraction TechniqueVestibular nystagmusFemaleVestibule Labyrinthsense organsNeurology (clinical)PsychologyInsula
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Functional MRI of galvanic vestibular stimulation with alternating currents at different frequencies.

2004

Abstract Functional MRI was performed in 28 healthy volunteers to study the effects of galvanic vestibular stimulation with alternating currents (AC-GVS) of different frequencies on brain activation patterns. The aims of this study were (1) to identify specific areas within the vestibular cortical network that are involved in the processing of frequency-specific aspects by correlation analyses, (2) to determine the optimal frequency for stimulation of the vestibular system with respect to perception, and (3) to analyze whether different frequencies of AC-GVS are mediated in different cortical areas or different sites within the vestibular cortex. AC-GVS was performed using sinusoidal stimul…

AdultMalemedicine.medical_specialtyCognitive NeuroscienceMotion PerceptionStimulationAudiologySomatosensory systemSupramarginal gyrusmedicineImage Processing Computer-AssistedHumansGalvanic vestibular stimulationVestibular systemPhysicsCerebral CortexBrain Mappingmedicine.diagnostic_testVestibular cortexMagnetic Resonance ImagingElectric StimulationOxygenNeurologyCerebellar vermisFemaleVestibule LabyrinthNerve NetFunctional magnetic resonance imagingNeuroscienceAlgorithmsNeuroImage
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Asymmetric modulation of human visual cortex activity during 10 degrees lateral gaze (fMRI study).

2005

We used BOLD fMRI to study the differential effects of the direction of gaze on the visual and the ocular motor systems. Fixation of a target straight ahead was compared to fixation of a target 10 degrees to the right and 10 degrees to the left from gaze straight ahead, and to eyes open in complete darkness in thirteen healthy volunteers. While retinotopic coordinates remained the same in all fixation conditions, the fixation target shifted with respect to a head-centered frame of reference. During lateral fixation, deactivations in higher-order visual areas (one ventral cluster in the lingual and fusiform gyri and one dorsal cluster in the postero-superior cuneus) and, as a trend, activati…

AdultMalegenetic structuresCognitive NeuroscienceFixation OcularFunctional LateralityCuneusVisual processingmedicineImage Processing Computer-AssistedHumansComputer visionVisual Cortexbusiness.industryEye movementDarknessGazeMagnetic Resonance Imagingeye diseasesOxygenmedicine.anatomical_structureVisual cortexNeurologyVisuospatial perceptionData Interpretation StatisticalLateralityFixation (visual)FemaleArtificial intelligencebusinessPsychologyNeuroscienceNeuroImage
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Eye closure in darkness animates sensory systems.

2003

Single subject and group analyses (n = 12) showed that the eyes-open and eyes-closed states in complete darkness considerably and consistently differ in the patterns of associated brain activation in fMRI. During nonchanging external stimulation, ocular motor and attentional systems were activated when the eyes were open; the visual, somatosensory, vestibular, and auditory systems were activated when the eyes were closed. These data suggest that there are two different states of mental activity: with the eyes closed, an "interoceptive" state characterized by imagination and multisensory activity and with the eyes open, an "exteroceptive" state characterized by attention and ocular motor act…

AdultMalegenetic structuresEye MovementsCognitive NeuroscienceSensory systemStimulationSomatosensory systemBrain mappingmedicineImage Processing Computer-AssistedHumansOcular Physiological PhenomenaOcular Physiological PhenomenaVestibular systemBrain Mappingmedicine.diagnostic_testElectronystagmographySomatosensory CortexDarknessMagnetic Resonance Imagingeye diseasesOxygenNeurologyElectronystagmographyDarknessFemalesense organsPsychologyNeuroscienceNeuroImage
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