0000000000590193

AUTHOR

Helmut Butzkueven

0000-0003-3940-8727

showing 5 related works from this author

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

2011

Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability. Epidemiological studies have shown that genetic factors are primarily responsible for the substantially increased frequency of the disease seen in the relatives of affected individuals, and systematic attempts to identify linkage in multiplex families have confirmed that variation within the major histocompatibility complex (MHC) exerts the greatest individual effect on risk. Modestly powered genome-wide association studies (GWAS) have ena…

Immunity Cellular/geneticsCellular immunityMultiple SclerosisGenome-wide association studyCLEC16ABiologyPolymorphism Single NucleotideCell Differentiation/immunologyEurope/ethnologyMajor Histocompatibility Complex/geneticsMajor Histocompatibility Complex03 medical and health sciences0302 clinical medicinemedicineGenetic predispositionHumansGenetic Predisposition to DiseaseHLA-A Antigens/geneticsAlleles030304 developmental biologyGenetic associationGenetics0303 health sciencesImmunity CellularMultidisciplinaryHLA-A AntigensGenome HumanMultiple sclerosisGenetic Predisposition to Disease/geneticsHLA-DR Antigens/geneticsLymphocyte differentiationCell DifferentiationHLA-DR AntigensT-Lymphocytes Helper-InducerRC346medicine.diseasePolymorphism Single Nucleotide/geneticsGenetic architecture3. Good healthEuropeSample SizeImmunologyGenome Human/geneticsMultiple Sclerosis/genetics030217 neurology & neurosurgeryT-Lymphocytes Helper-Inducer/cytologyGenome-Wide Association StudyHLA-DRB1 Chains
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Prognostic indicators in pediatric clinically isolated syndrome

2017

Objective To assess prognostic factors for a second clinical attack and a first disability-worsening event in pediatric clinically isolated syndrome (pCIS) suggestive of multiple sclerosis (MS) patients. Methods A cohort of 770 pCIS patients was followed up for at least 10 years. Cox proportional hazard models and Recursive Partitioning and Amalgamation (RECPAM) tree-regression were used to analyze data. Results In pCIS, female sex and a multifocal onset were risk factors for a second clinical attack (hazard ratio [HR], 95% confidence interval [CI] = 1.28, 1.06–1.55; 1.42, 1.10–1.84, respectively), whereas disease-modifying drug (DMD) exposure reduced this risk (HR, 95% CI = 0.75, 0.60–0.95…

0301 basic medicinemedicine.medical_specialtyeducation.field_of_studyClinically isolated syndromeExpanded Disability Status Scalebusiness.industryProportional hazards modelHazard ratioPopulationRetrospective cohort studySurgery03 medical and health sciences030104 developmental biology0302 clinical medicineNeurologyInternal medicineMedicineNeurology (clinical)Age of onsetRisk factorbusinesseducation030217 neurology & neurosurgeryAnnals of Neurology
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Multiple sclerosis severity score: Using disability and disease duration to rate disease severity

2005

Background: There is no consensus method for determining progression of disability in patients with multiple sclerosis (MS) when each patient has had only a single assessment in the course of the disease. Methods: Using data from two large longitudinal databases, the authors tested whether cross-sectional disability assessments are representative of disease severity as a whole. An algorithm, the Multiple Sclerosis Severity Score (MSSS), which relates scores on the Expanded Disability Status Scale (EDSS) to the distribution of disability in patients with comparable disease durations, was devised and then applied to a collection of 9,892 patients from 11 countries to create the Global MSSS. I…

AdultMalemedicine.medical_specialtyMultiple SclerosisDatabases FactualCross-sectional studyModels NeurologicalDiseaseSUSCEPTIBILITYSeverity of Illness IndexCohort StudiesDisability EvaluationPredictive Value of TestsRecurrenceSeverity of illnessmedicineHumansLongitudinal StudiesAge of OnsetModels StatisticalExpanded Disability Status Scalebusiness.industryMultiple sclerosisOUTCOME MEASUREReproducibility of ResultsNATURAL-HISTORYMiddle AgedPrognosismedicine.diseaseCross-Sectional StudiesPredictive value of testsDisease ProgressionPhysical therapyFemaleFranceNeurology (clinical)Age of onsetbusinessCohort study
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Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

2013

International audience; Using the ImmunoChip custom genotyping array, we analyzed 14,498 subjects with multiple sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 potentially associated regions (P < 1.0 × 10(-4)). In a replication phase, we combined these data with previous genome-wide association study (GWAS) data from an independent 14,802 subjects with multiple sclerosis and 26,703 healthy controls. In these 80,094 individuals of European ancestry, we identified 48 new susceptibility variants (P < 5.0 × 10(-8)), 3 of which we found after conditioning on previously identified variants. Thus, there are now 110 established multiple sclerosis risk variant…

Multiple SclerosisGenotype[SDV]Life Sciences [q-bio]European Continental Ancestry GroupGenome-wide association studyCLEC16ABiologymultiple sclerosisMajor histocompatibility complexPolymorphism Single NucleotideArticleWhite People03 medical and health sciences0302 clinical medicineResearch Support N.I.H. ExtramuralGene FrequencyPolymorphism (computer science)Journal ArticleGeneticsmedicineHumansGenetic Predisposition to DiseaseAlleleGenotypingAllele frequency030304 developmental biologyGenetics0303 health sciencesResearch Support Non-U.S. Gov'tMultiple sclerosisChromosome MappingGenetic Variationmedicine.disease3. Good healthGenetic Locibiology.protein030217 neurology & neurosurgery[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyGenome-Wide Association Study
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Prognostic indicators in pediatric clinically isolated syndrome

2017

To assess prognostic factors for a second clinical attack and a first disability worsening event in pediatric clinically isolated syndrome (pCIS) suggestive of Multiple Sclerosis (MS) patients. Objective: To assess prognostic factors for a second clinical attack and a first disability-worsening event in pediatric clinically isolated syndrome (pCIS) suggestive of multiple sclerosis (MS) patients. Methods: A cohort of 770 pCIS patients was followed up for at least 10 years. Cox proportional hazard models and Recursive Partitioning and Amalgamation (RECPAM) tree-regression were used to analyze data. Results: In pCIS, female sex and a multifocal onset were risk factors for a second clinical att…

RegistrieMaleMultiple SclerosisAdolescentAdolescent; Age of Onset; Child; Demyelinating Diseases; Female; Follow-Up Studies; Humans; Male; Multiple Sclerosis; Prognosis; Retrospective Studies; Risk Factors; Disease Progression; Registries; Neurology; Neurology (clinical)PrognosiONSET MULTIPLE-SCLEROSISCHILDHOODCHILDRENPARACLINICAL FEATURESDISABILITY PROGRESSIONNOFollow-Up StudieRisk FactorsRetrospective Studieprognostic indicatorsMultiple Sclerosipediatric multiple sclerosis prognosis indicatorsHumansRegistriesAge of OnsetChildOPTIC NEURITISRetrospective StudiesRisk FactorDemyelinating DiseaseNATURAL-HISTORYPrognosismultiple sclerosis clinically isolated syndrome prognostic indicatorsNeurologyTRANSVERSE MYELITISclinically isolated syndromeINTERFERON BETA-1BDisease ProgressionSettore MED/26 - NeurologiaFemaleNeurology (clinical)FOLLOW-UPDemyelinating DiseasesFollow-Up StudiesHuman
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