0000000000201569

AUTHOR

Leonard H. Van Den Berg

showing 4 related works from this author

Resting-state EEG reveals four subphenotypes of amyotrophic lateral sclerosis

2021

Abstract Amyotrophic lateral sclerosis is a devastating disease characterized primarily by motor system degeneration, with clinical evidence of cognitive and behavioural change in up to 50% of cases. Amyotrophic lateral sclerosis is both clinically and biologically heterogeneous. Subgrouping is currently undertaken using clinical parameters, such as site of symptom onset (bulbar or spinal), burden of disease (based on the modified El Escorial Research Criteria) and genomics in those with familial disease. However, with the exception of genomics, these subcategories do not take into account underlying disease pathobiology, and are not fully predictive of disease course or prognosis. Recently…

NeuronsResting state fMRImedicine.diagnostic_testbusiness.industryAmyotrophic Lateral SclerosisBrainElectroencephalographyCognitionDiseaseElectroencephalographyNeurophysiologymedicine.diseaseCorrelationMotor systemmedicineHumansNeurology (clinical)Amyotrophic lateral sclerosisbusinessNeuroscienceBrain
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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

2018

© 2018 Elsevier Inc.

MaleAls geneGenome-wide association studyFAMILIAL ALSALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS0302 clinical medicine80 and overPsychologyGWASKIF5AAetiologycargoAged 80 and over0303 health sciencesFrench ALS ConsortiumKinesinKINESIN HEAVY-CHAINCognitive Sciencesaxonal transportHumanHereditary spastic paraplegiaNeuroscience(all)Single-nucleotide polymorphismTARGETED DISRUPTIONArticle03 medical and health sciencesGeneticsHumansAmino Acid SequenceLoss functionAgedHEXANUCLEOTIDE REPEATNeuroscience (all)MUTATIONSAmyotrophic Lateral Sclerosis3112 Neurosciences1702 Cognitive Sciencemedicine.diseaseITALSGEN ConsortiumAnswer ALS Foundation030104 developmental biologyALS Sequencing ConsortiumHuman medicine1109 Neurosciences030217 neurology & neurosurgery0301 basic medicineALS; GWAS; KIF5A; WES; WGS; axonal transport; cargo[SDV]Life Sciences [q-bio]KinesinsNeurodegenerativeGenetic analysisGenomeAMYOTROPHIC-LATERAL-SCLEROSIS3124 Neurology and psychiatryCohort StudiesPathogenesisLoss of Function MutationMissense mutation2.1 Biological and endogenous factorsAmyotrophic lateral sclerosisNYGC ALS ConsortiumGeneticsGeneral NeuroscienceALS axonal transport cargo GWAS KIF5A WES WGSMiddle AgedPhenotypeSettore MED/26 - NEUROLOGIANeurologicalProject MinE ALS Sequencing ConsortiumKinesinWESFemaleAdultBiologyGENOTYPE IMPUTATIONALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Adult; Aged; Aged 80 and over; Amino Acid Sequence; Amyotrophic Lateral Sclerosis; Cohort Studies; Female; Genome-Wide Association Study; Humans; Kinesin; Loss of Function Mutation; Male; Middle Aged; Young AdultNOYoung AdultRare DiseasesmedicineSLAGEN ConsortiumGene030304 developmental biologyClinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) ConsortiumNeurology & NeurosurgeryHuman GenomeNeurosciencesAXONAL-TRANSPORTBrain DisordersALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS;Family memberDNA-DAMAGEMOTOR-NEURONS3111 BiomedicineCohort StudieALSGenomic Translation for ALS Care (GTAC) ConsortiumWGSAmyotrophic Lateral SclerosiGenome-Wide Association StudyALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Neuroscience (all)
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ATXN2 trinucleotide repeat length correlates with risk of ALS

2017

We investigated a CAG trinucleotide repeat expansion in the ATXN2 gene in amyotrophic lateral sclerosis (ALS). Two new case-control studies, a British dataset of 1474 ALS cases and 567 controls, and a Dutch dataset of 1328 ALS cases and 691 controls were analyzed. In addition, to increase power, we systematically searched PubMed for case-control studies published after 1 August 2010 that investigated the association between ATXN2 intermediate repeats and ALS. We conducted a meta-analysis of the new and existing studies for the relative risks of ATXN2 intermediate repeat alleles of between 24 and 34 CAG trinucleotide repeats and ALS. There was an overall increased risk of ALS for those carry…

MaleExpansion0301 basic medicineAgingATXN2 geneSettore MED/03 - GENETICA MEDICA0302 clinical medicineTrinucleotide RepeatsGenetic Report AbstractAmyotrophic lateral sclerosisAtaxin-2GeneticsCAGGeneral NeuroscienceATXN2Triplet3. Good healthFemalePsychologyNeurovetenskaperRiskNeuroscience(all)Age of onsetClinical Neurology03 medical and health sciencesSCA2Trinucleotide repeatJournal ArticlemedicineHumansAlleleAllelesGenetic Association StudiesAmyotrophic lateral sclerosiIntermediate expansionNeuroscience (all)NeurosciencesExponential riskCase-control studyAmyotrophic lateral sclerosismedicine.diseaseClinical neurologyAgeing030104 developmental biologyCase-Control StudiesHuman medicineNeurology (clinical)ALSGeriatrics and GerontologyAge of onsetTrinucleotide Repeat ExpansionTrinucleotide repeat expansionALS; ATXN2; Age of onset; Amyotrophic lateral sclerosis; CAG; Expansion; Exponential risk; Intermediate expansion; Risk; SCA2; Trinucleotide repeat; TripletNeuroscience030217 neurology & neurosurgeryMeta-AnalysisDevelopmental BiologyNeurobiology of Aging
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Association of maternal prenatal smoking GFI1-locus and cardio-metabolic phenotypes in 18,212 adults

2018

Background: DNA methylation at the GFI1-locus has been repeatedly associated with exposure to smoking from the foetal period onwards. We explored whether DNA methylation may be a mechanism that links exposure to maternal prenatal smoking with offspring's adult cardio-metabolic health.Methods: We meta-analysed the association between DNA methylation at GFI1-locus with maternal prenatal smoking, adult own smoking, and cardio-metabolic phenotypes in 22 population-based studies from Europe, Australia, and USA (n= 18,212). DNA methylation at the GFI1-locus was measured in whole-blood. Multivariable regression models were fitted to examine its association with exposure to prenatal and own adult s…

Genetics and Molecular Biology (all)MaleNetherlands Twin Register (NTR)0301 basic medicineResearch paperGFI1 protein humanGFI1-locusraskausResearch & Experimental Medicinecardio-metabolic phenotypesBiochemistryEpigenesis GeneticGLOBAL Meth QTL Consortium0302 clinical medicinePregnancySmoke030212 general & internal medicinematernal prenatal smokingDNA METHYLATIONmedia_commonRISK2. Zero hungereducation.field_of_studySmokingta3142General MedicineMiddle Agedgenetics [Transcription Factors]3. Good healthDNA-Binding ProteinsPhenotypeMedicine Research & ExperimentalCARDIOVASCULAR-DISEASEepigenetiikkaPopulation SurveillancePrenatal Exposure Delayed EffectsDNA methylation/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemaleDisease SusceptibilityBIOS ConsortiumMedical GeneticsLife Sciences & BiomedicineAdultmedicine.medical_specialtyOffspringBirth weightPopulationMothersgenetics [DNA-Binding Proteins]ta3111MethylationGeneral Biochemistry Genetics and Molecular BiologyDIET03 medical and health sciencesMedicine General & InternalSDG 3 - Good Health and Well-beingtupakointiGeneral & Internal MedicineInternal medicine/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_medicinemedia_common.cataloged_instanceHumansddc:610adverse effects [Maternal Exposure]EXPOSUREEpigeneticsEuropean unioneducationMedicinsk genetikEPIGENOME-WIDE ASSOCIATIONPregnancyBiochemistry Genetics and Molecular Biology (all)Science & Technologybusiness.industryadverse effects [Smoking]DNA Methylationta3121medicine.diseaseBIRTH-WEIGHT030104 developmental biologyEndocrinologyGenetic Locisydän- ja verisuonitauditCpG IslandsCIGARETTE-SMOKINGCESSATIONEnergy Metabolismmetabolism [Myocardium]businessBody mass indexBiomarkersTranscription FactorsEBioMedicine
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