0000000000116621

AUTHOR

Rita Cittadella

showing 5 related works from this author

Lack of association between estrogen receptor 1 gene polymorphisms and multiple sclerosis in southern Italy in humans

2002

Estrogen receptor 1 gene polymorphisms (ESR1) have been found to be associated with multiple sclerosis (MS) in both Japanese and Finnish populations. We investigated the association between ESR1 polymorphisms (PvuII and XbaI) and MS in a study of 132 MS patients and 129 controls from the same geographic background (southern Italy). Allelic and genotypic frequencies were not different between MS patients and population controls for either the PvuII or XbaI polymorphism. This result suggests that the association between a given disease and a genomic characteristic must be confirmed by separate investigations in different populations. © 2002 Elsevier Science Ireland Ltd. All rights reserved.

AdultMaleMultiple SclerosisAdolescentGenotypePopulationEstrogen receptorBiologyGene FrequencyPolymorphism (computer science)GenotypemedicineGenetic predispositionHumansGenetic Predisposition to DiseaseAlleleeducationAgededucation.field_of_studyPolymorphism GeneticGeneral NeuroscienceMultiple sclerosisEstrogen Receptor alphaEstrogen receptor Genetic susceptibility Italians Multiple sclerosis PolymorphismMiddle Agedmedicine.diseaseItalyReceptors EstrogenImmunologyFemaleEstrogen receptor alphaNeuroscience Letters
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Gender-related effect of clinical and genetic variables on the cognitive impairment in multiple sclerosis

2004

BACKGROUND: Cognitive impairment may occur at any time during the course of multiple sclerosis (MS), and it is often a major cause of disability in patients with the disease. The APOE-epsilon4 allele is the major known genetic risk factor for late onset familial and sporadic Alzheimer's Disease (AD), and it seems to be implicated in cognitive decline in normal elderly persons. OBJECTIVE: To investigate the clinical and genetic variables that can be associated with the cognitive decline in patients with MS. METHODS: Five-hundred and three patients with clinically definite MS underwent a battery of neuropsychological tests and, according to the number of failed tests, were divided into cognit…

Apolipoprotein EAdultMalemedicine.medical_specialtyPediatricsNeurologyMultiple SclerosisMessengerLate onsetDiseaseNeuropsychological TestsApolipoproteins EmedicineOdds RatioHumansRNA MessengerCognitive declineAllelePsychiatrycognitive impairmentAPOE; Cognitive impairment; Multiple sclerosisAnalysis of VarianceSex CharacteristicsChi-Square DistributionReverse Transcriptase Polymerase Chain ReactionMultiple sclerosisCognitive disorderGenetic VariationMiddle Agedmedicine.diseasemultiple sclerosis cognitive impairment gender geneticNeurologyGenetic Variation; Odds Ratio; Analysis of Variance; Sex Characteristics; Chi-Square Distribution; Humans; Apolipoproteins E; Reverse Transcriptase Polymerase Chain Reaction; Cognition Disorders; RNA Messenger; Multiple Sclerosis; Adult; Middle Aged; Neuropsychological Tests; Female; MaleRNAFemaleSettore MED/26 - NeurologiaNeurology (clinical)Psychologymultiple sclerosis · cognitive impairment · APOECognition DisordersAPOE
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A novel mutation (Thr116IIe) in the presenilin 1 gene in a patient with early-onset Alzheimer's disease

2004

We report a novel presenilin 1 (PSN1) mutation (Thr116Ile) in a woman with early onset Alzheimer's disease (AD). This mutation was not found in 100 healthy controls, indicating that this is not a common polymorphism. The patient presented with forgetfulness at age 45, followed over the next 3 years by a worsening of the memory loss and frequent episodes of confusion and spatial disorientation. Neuroimaging studies were consistent with AD. The analysis of the family's pedigree showed that the proband was apparently the only member affected. Because the early death of several close relatives (i.e. the mother and the grandmother) and the demonstration that the father is not a mutation carrier,…

ThreonineProbandDNA Mutational AnalysisDiseaseBioinformaticsGenetic analysisPresenilinMutation CarrierAlzheimer DiseasePolymorphism (computer science)Presenilin-1medicineHumansEarly-onset Alzheimer's diseaseIsoleucineGeneticsbusiness.industryMembrane ProteinsMiddle Agedmedicine.diseaseNeurologyMutationMutation (genetic algorithm)FemaleSettore MED/26 - NeurologiaNeurology (clinical)businessAlzheimer's Disease Novel mutation Presenilin 1
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Apolipoprotein E genotype does not influence the progression of multiple sclerosis

2003

OBJECTIVE: To investigate the association between apolipoprotein E (APOE) polymorphisms and the progression of MS. METHODS: We investigated 428 subjects affected by clinically defined MS, with a disease duration of at least three years. We collected data concerning the age at onset of MS, clinical type, disease duration and disability according to the expanded disability status scale (EDSS). We also calculated the progression index (PI) to evaluate disease progression. APOE genotyping and the -491 A/T polymorphism of the APOE promoter were determined. RESULTS: No association was observed between the APOE epsilon4 allele and clinical characteristics of our study population. We also investiga…

OncologyApolipoprotein EAdultMalemedicine.medical_specialtyMultiple SclerosisGenotypeAdolescentOdds Ratio; Polymorphism Genetic; Chi-Square Distribution; Humans; Disease Progression; Apolipoproteins E; Genotype; Multiple Sclerosis; Adult; Confidence Intervals; Adolescent; Statistics Nonparametric; Female; MalePopulationAPOE polymorphismBiologyStatistics NonparametricApolipoproteins EGeneticPolymorphism (computer science)Internal medicineGenotypeMultiple SclerosimedicineOdds RatioConfidence IntervalsHumansNonparametricPolymorphismeducationGenotypingAPOE promotereducation.field_of_studyExpanded Disability Status ScalePolymorphism GeneticChi-Square DistributionMS progressionStatisticsOdds ratioNeurologyImmunologyDisease ProgressionPopulation studylipids (amino acids peptides and proteins)FemaleSettore MED/26 - NeurologiaNeurology (clinical)Confidence IntervalHuman
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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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