0000000000222649

AUTHOR

Frank Weber

showing 9 related works from this author

Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation

2016

Genome-wide study in Germans identifies four novel multiple sclerosis risk genes and confirms already known gene loci.

0301 basic medicineMaleDLEU1MedizinGenome-wide association studyEpigenesis GeneticCohort StudiesResearch ArticlesTranscriptional Regulator ERGGeneticsAged 80 and overGlycine Hydroxymethyltransferaseeducation.field_of_studyMultidisciplinaryDNA methylationSciAdv r-articlesMiddle AgedSHMT13. Good healthddc:DNA-Binding ProteinsERGDNA methylationFemaleMAZFunction and Dysfunction of the Nervous SystemResearch ArticleAdultAdolescentPopulationQuantitative Trait Loci610 Medicine & healthDleu1 ; Dna Methylation ; Erg ; L3mbtl3 ; Maz ; Multiple Sclerosis ; Shmt1 ; Genome-wide Association StudyQuantitative trait locusBiologyMajor histocompatibility complexNeurological DisordersMultiple sclerosis03 medical and health sciencesYoung AdultTranscriptional Regulator ERGHumansGenetic Predisposition to DiseaseL3MBTL3EpigeneticsAlleleeducationAllelesAgedgenome-wide association study030104 developmental biologyGenetic LociCase-Control Studiesbiology.proteinTranscription Factors
researchProduct

Complete Epstein-Barr virus seropositivity in a large cohort of patients with early multiple sclerosis

2020

ObjectiveTo determine the prevalence of antibodies to Epstein-Barr virus (EBV) in a large cohort of patients with early multiple sclerosis (MS).MethodsSerum samples were collected from 901 patients with a clinically isolated syndrome (CIS) or early relapsing–remitting multiple sclerosis (RRMS) participating in the German National MS cohort, a prospective cohort of patients with early MS with stringent inclusion criteria. Epstein-Barr nuclear antigen (EBNA)-1 and viral capsid antigen (VCA) antibodies were measured in diluted sera by chemiluminescence immunoassays (CLIAs). Sera of EBNA-1 and VCA antibody-negative patients were retested undiluted by an EBV IgG immunoblot. For comparison, we re…

AdultMaleHerpesvirus 4 HumanMultiple Sclerosis610 Medicine & healthmedicine.disease_causeAntibodies ViralSerology03 medical and health sciences0302 clinical medicineAntigenSeroepidemiologic Studieshemic and lymphatic diseasesGermanymedicineSeroprevalenceHumans1506Registriesddc:610Prospective cohort study610 Medicine & health030304 developmental biologyRetrospective Studies0303 health sciencesClinically isolated syndromebusiness.industryMultiple sclerosisMiddle Agedmedicine.diseaseEpstein–Barr virusddc:Psychiatry and Mental healthImmunologyCohortSurgeryFemaleNeurology (clinical)Function and Dysfunction of the Nervous Systembusiness030217 neurology & neurosurgery
researchProduct

Clinical implications of serum neurofilament in newly diagnosed MS patients: a longitudinal multicentre cohort study

2020

Abstract Background We aim to evaluate serum neurofilament light chain (sNfL), indicating neuroaxonal damage, as a biomarker at diagnosis in a large cohort of early multiple sclerosis (MS) patients. Methods In a multicentre prospective longitudinal observational cohort, patients with newly diagnosed relapsing-remitting MS (RRMS) or clinically isolated syndrome (CIS) were recruited between August 2010 and November 2015 in 22 centers. Clinical parameters, MRI, and sNfL levels (measured by single molecule array) were assessed at baseline and up to four-year follow-up. Findings Of 814 patients, 54.7% (445) were diagnosed with RRMS and 45.3% (369) with CIS when applying 2010 McDonald criteria (R…

0301 basic medicineAdultMalemedicine.medical_specialtyResearch paperClinical Decision-MakingIntermediate Filamentslcsh:Medicine610 Medicine & healthNewly diagnosedGeneral Biochemistry Genetics and Molecular BiologyMultiple sclerosis03 medical and health sciences0302 clinical medicineAtrophyMultiple Sclerosis Relapsing-RemittingNeurofilament ProteinsInternal medicineGermanymedicineHumansLongitudinal StudiesProspective Studiesddc:610610 Medicine & healthNeurofilament light chainlcsh:R5-920Clinically isolated syndromebusiness.industryMultiple sclerosislcsh:RMcDonald criteriaGeneral MedicineBiomarkermedicine.diseasesNfL030104 developmental biology030220 oncology & carcinogenesisCohortDisease ProgressionCommentaryBiomarker (medicine)Femalelcsh:Medicine (General)businessPredictionFunction and Dysfunction of the Nervous SystemBiomarkersCohort study
researchProduct

Automated segmentation of changes in FLAIR-hyperintense white matter lesions in multiple sclerosis on serial magnetic resonance imaging

2019

Longitudinal analysis of white matter lesion changes on serial MRI has become an important parameter to study diseases with white-matter lesions. Here, we build on earlier work on cross-sectional lesion segmentation; we present a fully automatic pipeline for serial analysis of FLAIR-hyperintense white matter lesions. Our algorithm requires three-dimensional gradient echo T1- and FLAIR- weighted images at 3 Tesla as well as available cross-sectional lesion segmentations of both time points. Preprocessing steps include lesion filling and intrasubject registration. For segmentation of lesion changes, initial lesion maps of different time points are fused; herein changes in intensity are analyz…

AdultMaleMultiple SclerosisCognitive Neuroscience610Fluid-attenuated inversion recoverylcsh:Computer applications to medicine. Medical informaticscomputer.software_genrelcsh:RC346-429050105 experimental psychologyCohort StudiesWhite matterLesionYoung Adult03 medical and health sciences0302 clinical medicineSørensen–Dice coefficientVoxelmedicineHumans0501 psychology and cognitive sciencesRadiology Nuclear Medicine and imagingSegmentationLongitudinal Studieslcsh:Neurology. Diseases of the nervous systemmedicine.diagnostic_testbusiness.industry05 social sciencesRegular ArticleMagnetic resonance imagingLesion segmentation; Magnetic resonance imaging; Multiple sclerosis; White matter lesionsMiddle AgedMagnetic Resonance ImagingHyperintensityddc:Cross-Sectional Studiesmedicine.anatomical_structureNeurologylcsh:R858-859.7FemaleNeurology (clinical)medicine.symptombusinessNuclear medicinecomputer030217 neurology & neurosurgeryFollow-Up StudiesNeuroImage: Clinical
researchProduct

Successful Replication of GWAS Hits for Multiple Sclerosis in 10,000 Germans Using the Exome Array

2015

Genome-wide association studies (GWAS) successfully identified various chromosomal regions to be associated with multiple sclerosis (MS). The primary aim of this study was to replicate reported associations from GWAS using an exome array in a large German study. German MS cases (n = 4,476) and German controls (n = 5,714) were genotyped using the Illumina HumanExome v1-Chip. Genotype calling was performed with the Illumina Genome Studio(TM) Genotyping Module, followed by zCall. Single-nucleotide polymorphisms (SNPs) in seven regions outside the human leukocyte antigen (HLA) region showed genome-wide significant associations with MS (P values < 5 × 10(-8) ). These associations have been repor…

Geneticseducation.field_of_studyEpidemiologyPopulationGenome-wide association studySingle-nucleotide polymorphismHuman leukocyte antigenBiologySNPeducationExomeGenotypingGenetics (clinical)Genetic associationGenetic Epidemiology
researchProduct

Treatment choices and neuropsychological symptoms of a large cohort of early MS

2018

ObjectiveTo assess clinical characteristics, distribution of disease-modifying treatments (DMTs), and neuropsychological symptoms in a large cohort of patients with early-stage MS.MethodsThe German National MS Cohort is a multicenter prospective longitudinal cohort study that has recruited DMT-naive patients with clinically isolated syndrome (CIS) and relapsing-remitting MS (RRMS) since 2010. We evaluated their baseline characteristics and the prevalence of neuropsychological symptoms.ResultsOf 1,124 patients, with a 2.2:1 female-to-male ratio and median age at onset of 31.71 years (interquartile range [IQR]: 26.06–40.33), 44.6% and 55.3% had CIS and RRMS, respectively. The median Expanded …

medicine.medical_specialty41610 Medicine & healthArticle03 medical and health sciences0302 clinical medicineQuality of lifeInterquartile rangeInternal medicinemedicineddc:610030212 general & internal medicine10. No inequalityDepression (differential diagnoses)Expanded Disability Status ScaleClinically isolated syndromebusiness.industryMultiple sclerosisNeuropsychologymedicine.disease3. Good healthNeurologyCohortNeurology (clinical)businessFunction and Dysfunction of the Nervous System030217 neurology & neurosurgery
researchProduct

MSJ763541_supplementary_material – Supplemental material for Association of smoking but not HLA-DRB1*15:01, APOE or body mass index with brain atroph…

2018

Supplemental material, MSJ763541_supplementary_material for Association of smoking but not HLA-DRB1*15:01, APOE or body mass index with brain atrophy in early multiple sclerosis by Christiane Graetz, Adriane Gröge, Felix Luessi, Anke Salmen, Daniela Zöller, Janine Schultz, Nelly Siller, Vinzenz Fleischer, Barbara Bellenberg, Achim Berthele, Viola Biberacher, Joachim Havla, Michael Hecker, Reinhard Hohlfeld, Carmen Infante-Duarte, Jan S Kirschke, Tania Kümpfel, Ralf Linker, Friedemann Paul, Steffen Pfeuffer, Philipp Sämann, Gerrit Toenges, Frank Weber, Uwe K Zettl, Antje Jahn-Eimermacher, Gisela Antony, Sergiu Groppa, Heinz Wiendl, Bernhard Hemmer, Mark Mühlau, Carsten Lukas, Ralf Gold, Chri…

FOS: Clinical medicine111702 Aged Health CareFOS: Health sciences110904 Neurology and Neuromuscular Diseases
researchProduct

Multiple Sclerosis Therapy Consensus Group (MSTCG): position statement on disease-modifying therapies for multiple sclerosis (white paper)

2021

Multiple sclerosis is a complex, autoimmune-mediated disease of the central nervous system characterized by inflammatory demyelination and axonal/neuronal damage. The approval of various disease-modifying therapies and our increased understanding of disease mechanisms and evolution in recent years have significantly changed the prognosis and course of the disease. This update of the Multiple Sclerosis Therapy Consensus Group treatment recommendation focuses on the most important recommendations for disease-modifying therapies of multiple sclerosis in 2021. Our recommendations are based on current scientific evidence and apply to those medications approved in wide parts of Europe, particular…

Position statementmedicine.medical_specialtytreatment recommendationMedizin610 Medicine & healthReviewDiseasemultiple sclerosis03 medical and health sciences0302 clinical medicineWhite paperNeuronal damagemedicine030212 general & internal medicineRC346-429610 Medicine &amp; healthIntensive care medicinePharmacologybusiness.industryMultiple sclerosisDisease mechanismsGuidelinemedicine.diseasedisease-modifying therapy3. Good healthGroup treatmentNeurologyNeurology. Diseases of the nervous systemNeurology (clinical)businessguideline030217 neurology & neurosurgeryTherapeutic Advances in Neurological Disorders
researchProduct

Is APOE ε4 associated with cognitive performance in early MS?

2020

ObjectiveTo assess the impact of APOE polymorphisms on cognitive performance in patients newly diagnosed with clinically isolated syndrome (CIS) or relapsing-remitting MS (RRMS).MethodsThis multicenter cohort study included 552 untreated patients recently diagnosed with CIS or RRMS according to the 2005 revised McDonald criteria. The single nucleotide polymorphisms rs429358 (ε4) and rs7412 (ε2) of the APOE haplotype were assessed by allelic discrimination assays. Cognitive performance was evaluated using the 3-second paced auditory serial addition test and the Multiple Sclerosis Inventory Cognition (MUSIC). Sum scores were calculated to approximate the overall cognitive performance and memo…

OncologyApolipoprotein Emedicine.medical_specialtyClinically isolated syndromemedicine.diagnostic_testPaced Auditory Serial Addition Testbusiness.industryMultiple sclerosisCognitionMcDonald criteria610 Medicine & healthmedicine.diseaseNeurologyInternal medicinemedicineddc:610Neurology (clinical)Effects of sleep deprivation on cognitive performance610 Medicine &amp; healthFunction and Dysfunction of the Nervous SystembusinessCohort study
researchProduct