0000000001088459

AUTHOR

Daniela Berg

showing 5 related works from this author

Echogenicity of the substantia nigra in relatives of patients with sporadic Parkinson’s disease

2003

Increased echogenicity of the substantia nigra (SN) on ultrasound is a typical sonographic finding in Parkinson's disease (PD). Sonographic signal intensity of the SN is related to tissue iron content with higher iron level being associated with increased echogenicity. Recent findings indicate that hyperechogenicity of the SN represents an important susceptibility factor for nigrostriatal degeneration. In this study we determined the prevalence of a characteristic ultrasound sign of Parkinson's disease in first-degree relatives of PD patients. Fourteen patients with sporadic PD and 58 of their relatives underwent neurological, neuropsychological, and ultrasound examination. In addition, fou…

AdultMaleFluorine RadioisotopesPathologymedicine.medical_specialtyParkinson's diseaseUltrasonography Doppler TranscranialCognitive NeuroscienceSubstantia nigraNeuropsychological TestsHypokinesiamedicineHumansGenetic Predisposition to DiseaseGenetic TestingDominance CerebralProblem SolvingDominance (genetics)business.industryPutamenUltrasoundEchogenicityParkinson DiseaseMiddle Agedmedicine.diseaseDihydroxyphenylalanineTranscranial DopplerSubstantia NigraNeurologyNerve DegenerationFemalemedicine.symptomPsychologybusinessTomography Emission-ComputedNeuroImage
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Hyperechogenicity of the substantia nigra in healthy controls is related to MRI changes and to neuronal loss as determined by F-Dopa PET

2009

Abstract Transcranial ultrasound (TCS) has been shown to reveal hyperechogenicity of the substantia nigra (SN) in Parkinsonian patients and in about 10% of healthy controls. It is hypothesized that SN hyperechogenicity in healthy subjects is a vulnerability marker for idiopathic Parkinson's disease (IPD). Although there is strong evidence that the echomarker results from increased local iron content, the exact pathophysiological mechanisms remain incompletely understood. Thus, prognostic impact can only be estimated. We examined 14 subjects with SN hyperechogenicity (SN+) (7 IPD patients and 7 controls) and 7 healthy controls without the echomarker (SN−) by a magnetic resonance imaging meth…

AdultMalePathologymedicine.medical_specialtyCognitive NeuroscienceSubstantia nigraReference ValuesmedicineHumansNeuronsmedicine.diagnostic_testbusiness.industryTissue inhomogeneityHealthy subjectsParkinson DiseaseMagnetic resonance imagingMiddle AgedEchoencephalographyMagnetic Resonance ImagingPathophysiologyDihydroxyphenylalanineTranscranial DopplerSubstantia NigraNeurologyPositron-Emission TomographyT2 relaxationIron contentFemaleRadiopharmaceuticalsbusinessNeuroImage
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The predictive power of transcranial sonography in movement disorders: a longitudinal cohort study.

2018

Transcranial sonography (TCS) is a noninvasive, easily performed, and commonly available neuroimaging technique useful for the study of brain parenchyma in movement disorders. This tool has been increasingly used in the diagnosis of Parkinson’s disease and atypical parkinsonism. The aim of the study was to evaluate the applicability of this technique as supportive tool in the early diagnosis of movement disorders. We performed TCS on 315 individuals which were diagnosed as healthy controls or affected by idiopathic Parkinson’s disease, monogenetic subtypes of Parkinson’s disease, atypical parkinsonism, and Dementia with Lewy bodies. Five TCS diagnostic patterns were defined on the basis of …

0301 basic medicineMalemedicine.medical_specialtyMovement disordersNeurologyUltrasonography Doppler TranscranialConcordanceDementia with Lewy bodiesDermatologyDiseaseCohort Studies03 medical and health sciences0302 clinical medicineNeuroimagingPredictive Value of TestsInternal medicineSubstantia nigramedicineLenticular nucleiHumansNeuroradiologyAgedMovement DisordersDementia with Lewy bodiesbusiness.industryfungiGeneral MedicineMiddle Agedmedicine.diseasePsychiatry and Mental health030104 developmental biologyAtypical parkinsonismIdiopathic Parkinson’s diseaseTranscranial sonographySettore MED/26 - NeurologiaFemaleNeurology (clinical)Neurosurgerymedicine.symptombusiness030217 neurology & neurosurgeryNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
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Large-scale replication and heterogeneity in Parkinson disease genetic loci

2012

Objective: Eleven genetic loci have reached genome-wide significance in a recent meta-analysis of genome-wide association studies in Parkinson disease (PD) based on populations of Caucasian descent. The extent to which these genetic effects are consistent across different populations is unknown. Methods: Investigators from the Genetic Epidemiology of Parkinson9s Disease Consortium were invited to participate in the study. A total of 11 SNPs were genotyped in 8,750 cases and 8,955 controls. Fixed as well as random effects models were used to provide the summary risk estimates for these variants. We evaluated between-study heterogeneity and heterogeneity between populations of different ances…

MaleGenotypeSingle-nucleotide polymorphismGenome-wide association studyCase-control studiesBiologyPolymorphism Single NucleotideGene Frequencygenetics [Parkinson Disease]HumansGenetic Predisposition to Diseaseddc:610AlleleParkinson Disease/geneticsAllele frequencyAllelesGenetic associationAgedGeneticsMedicine(all)Case-control studyParkinson DiseaseOdds ratioMiddle Agedddc:616.8Genetic epidemiologyGenetic LociCase-Control StudiesFemaleNeurology (clinical)Human medicineGenome-Wide Association Study
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Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption

2015

Contains fulltext : 155360.pdf (Publisher’s version ) (Closed access) Coffee, a major dietary source of caffeine, is among the most widely consumed beverages in the world and has received considerable attention regarding health risks and benefits. We conducted a genome-wide (GW) meta-analysis of predominately regular-type coffee consumption (cups per day) among up to 91,462 coffee consumers of European ancestry with top single-nucleotide polymorphisms (SNPs) followed-up in ~30 062 and 7964 coffee consumers of European and African-American ancestry, respectively. Studies from both stages were combined in a trans-ethnic meta-analysis. Confirmed loci were examined for putative functional and b…

INVOLVEMENTNetherlands Twin Register (NTR)GCKR protein humanPROTEINGenome-wide association studyVARIANTSgenetics [Brain-Derived Neurotrophic Factor]chemistry.chemical_compound0302 clinical medicinePolymorphism (computer science)genetics [Adaptor Proteins Signal Transducing]BINDINGBRAINGenetics0303 health sciencesBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsDisorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]3. Good healthPsychiatry and Mental healthPhenotypegenetics [Polymorphism Single Nucleotide]/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beinggenetics [Cytochrome P-450 CYP1A2]CaffeineCAFFEINESingle-nucleotide polymorphismBiologyArticle03 medical and health sciencesCellular and Molecular NeuroscienceSDG 3 - Good Health and Well-beingCytochrome P-450 CYP1A2/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_SNPHumansddc:610Allelegenetics [Basic Helix-Loop-Helix Leucine Zipper Transcription Factors]Molecular Biology030304 developmental biologyAdaptor Proteins Signal TransducingMLXIPL protein humanRECEPTORBrain-Derived Neurotrophic FactorCoffeata1182Feeding Behaviorbiology.organism_classificationta3124BDNFchemistryBehavioral medicineDevelopmental Psychopathology030217 neurology & neurosurgeryGLUCOKINASEmetabolism [Coffea]Genome-Wide Association StudyMolecular Psychiatry
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