0000000000330323

AUTHOR

Franz Fazekas

showing 5 related works from this author

Acute Cerebrovascular Disease in the Young

2013

Background and Purpose— Strokes have especially devastating implications if they occur early in life; however, only limited information exists on the characteristics of acute cerebrovascular disease in young adults. Although risk factors and manifestation of atherosclerosis are commonly associated with stroke in the elderly, recent data suggests different causes for stroke in the young. We initiated the prospective, multinational European study Stroke in Young Fabry Patients (sifap) to characterize a cohort of young stroke patients. Methods— Overall, 5023 patients aged 18 to 55 years with the diagnosis of ischemic stroke (3396), hemorrhagic stroke (271), transient ischemic attack (1071) we…

AdultMalemedicine.medical_specialtyPediatricsAdolescentischemiccauseCohort StudiesYoung AdultRisk FactorsmedicineHumansrisk factorsProspective Studiescardiovascular diseasesYoung adultProspective cohort studyStrokeAdvanced and Specialized NursingIntracerebral hemorrhageFabry diseaseCerebral infarctionbusiness.industryAge Factorsimagingyoung strokeMiddle Agedmedicine.diseaseintracerebral hemorrhagestrokeFabry diseaseEuropeStrokeCerebrovascular DisordersNeurologytransient ischemic attackAcute DiseaseCohortPhysical therapyFabry DiseaseFemaleNeurology (clinical)Cardiology and Cardiovascular MedicinebusinessCohort studyStroke
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Basilar Artery Diameter Is a Potential Screening Tool for Fabry Disease in Young Stroke Patients

2010

<i>Background:</i> Fabry disease (FD) is a rare hereditary lysosomal storage disease that has been highlighted as a possible etiology of stroke at a young age. Enlarged basilar artery diameters (BADs) have been demonstrated in FD, and we hypothesize that they might be useful for the screening of FD in young stroke patients. The aim of this study was to compare BADs of young stroke patients without FD to those of FD patients and of healthy age-matched controls. <i>Methods:</i> BADs were measured using MR angiography in 3 age- and gender-matched groups: 25 FD patients (aged 36.5 ± 11.0 years), 26 non-FD stroke patients and 20 healthy controls. <i>Results:</i&g…

AdultMalePathologymedicine.medical_specialtyRisk AssessmentSensitivity and SpecificityPredictive Value of TestsRisk FactorsGermanymedicine.arteryInternal medicineLysosomal storage diseaseBasilar arteryHumansMass ScreeningMedicineStrokeRetrospective StudiesAnalysis of VarianceChi-Square Distributionmedicine.diagnostic_testbusiness.industryAge FactorsMagnetic resonance imagingRetrospective cohort studyMiddle Agedmedicine.diseaseMagnetic Resonance ImagingFabry diseaseCerebral AngiographyStrokeNeurologyBasilar ArteryCase-Control StudiesEtiologyCardiologyFabry DiseaseFemaleNeurology (clinical)Cardiology and Cardiovascular MedicinebusinessDilatation PathologicCerebral angiographyCerebrovascular Diseases
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ECTRIMS/EAN guideline on the pharmacological treatment of people with multiple sclerosis.

2018

Background and purpose: Multiple sclerosis (MS) is a complex disease of the central nervous system. As new drugs are becoming available, knowledge on diagnosis and treatment must continuously evolve. There is therefore a need for a reference tool compiling current data on benefit and safety, to aid professionals in treatment decisions and use of resources across Europe. The European Committee of Treatment and Research in Multiple Sclerosis (ECTRIMS) and the European Academy of Neurology (EAN) have joined forces to meet this need. The objective was to develop an evidence-based clinical practice guideline for the pharmacological treatment of people with MS to guide healthcare professionals in…

medicine.medical_specialtyConsensusMultiple SclerosisdemyelinatingComplex diseasedisease-modifying therapies GRADE methodology guideline Multiple sclerosis Neurology Neurology (clinical)Outcome (game theory)Pharmacological treatmentImmunomodulation03 medical and health sciences0302 clinical medicineIntervention (counseling)GRADE methodologyAgency (sociology)Nominal group techniquemedicineImmunologic FactorsRelevance (law)Humans030212 general & internal medicineneurological disorderdisease-modifying therapiesIntensive care medicineSocieties MedicaldiseaseEvidence-Based Medicinebusiness.industryMultiple sclerosisdisease-modifying treatmentGuidelinemedicine.diseaseresearch methodEuropeNeurologymultiple sclerosiFamily medicinePractice Guidelines as TopicNeurology (clinical)businessguideline030217 neurology & neurosurgeryEuropean journal of neurology
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Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients.

2016

Multiple sclerosis (MS) is a prevalent neurological disease of complex etiology. Here, we describe the characterization of a multi-incident MS family that nominated a rare missense variant (p.G420D) in plasminogen (PLG) as a putative genetic risk factor for MS. Genotyping of PLG p.G420D (rs139071351) in 2160 MS patients, and 886 controls from Canada, identified 10 additional probands, two sporadic patients and one control with the variant. Segregation in families harboring the rs139071351 variant, identified p.G420D in 26 out of 30 family members diagnosed with MS, 14 unaffected parents, and 12 out of 30 family members not diagnosed with disease. Despite considerably reduced penetrance, lin…

0301 basic medicineProbandMaleGene ExpressionQH426-470multiple sclerosis0302 clinical medicineRisk FactorsGenotypeMissense mutationExomegeneticsguidelinesGenetics (clinical)degradationriskGeneticsLinkagedeficiencyMiddle AgedPenetrance3. Good healthPedigreeplasminogenChromosomes Human Pair 6FemalelinkageAdultGenotype610 Medicine & healthInvestigationsBiologysystemPolymorphism Single Nucleotideblood-brain-barrieractivatorMultiple sclerosisAssociation03 medical and health scienceslamininGenetic linkagemedicineGeneticsHumansAmino Acid Sequenceddc:610Molecular BiologyGenotypingAgeddiseaseSequence Homology Amino AcidMultiple sclerosisCase-control studyassociationPlasminogenmedicine.diseasediagnostic-criteria030104 developmental biologyCase-Control StudiesImmunologySequence Alignment030217 neurology & neurosurgery
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APOE epsilon variation in multiple sclerosis susceptibility and disease severity: some answers

2006

Background: Previous studies have examined the role of APOE variation in multiple sclerosis (MS), but have lacked the statistical power to detect modest genetic influences on risk and disease severity. The meta- and pooled analyses presented here utilize the largest collection, to date, of MS cases, controls, and families genotyped for the APOE epsilon polymorphism. Methods: Studies of MS and APOE were identified by searches of PubMed, Biosis, Web of Science, Cochrane Review, and Embase. When possible, authors were contacted for individual genotype data. Meta-analyses of MS case-control data and family-based analyses were performed to assess the association of APOE epsilon genotype with dis…

Apolipoprotein EOncologyRiskmedicine.medical_specialtyPathologyMultiple SclerosisGenotypeApolipoprotein E2Apolipoprotein E4Polymorphism Single NucleotideSeverity of Illness IndexLinkage DisequilibriumPrimary progressiveCentral nervous system disease03 medical and health sciences0302 clinical medicineApolipoproteins EDisease severityPolymorphism (computer science)Internal medicineGenotypemedicineHumansGenetic Predisposition to Disease10. No inequalityAlleles030304 developmental biology0303 health sciencesExpanded Disability Status ScalePolymorphism GeneticScience & Technologybusiness.industryMultiple sclerosismedicine.disease3. Good healthPedigreePhenotypeCase-Control StudiesSettore MED/26 - NeurologiaNeurology (clinical)businessMultiple Sclerosis APOE disease severity meta-analysis030217 neurology & neurosurgery
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