Search results for " DEMENTIA"

showing 10 items of 165 documents

CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients

2015

Mutations in CHCHD10 have recently been described as a cause of frontotemporal dementia (FTD) comorbid with amyotrophic lateral sclerosis (ALS). The aim of this study was to assess the frequency and clinical characteristics of CHCHD10 mutations in Italian patients diagnosed with familial (n= 64) and apparently sporadic ALS (n= 224). Three apparently sporadic patients were found to carry c.100C>T (p.Pro34Ser) heterozygous variant in the exon 2 of CHCHD10. This mutation had been previously described in 2 unrelated French patients with FTD-ALS. However, our patients had a typical ALS, without evidence of FTD, cerebellar or extrapyramidal signs, or sensorineural deficits. We confirm that CHC…

MaleAgingPediatricsmedicine.medical_specialtyPathologyAmyotrophic lateral sclerosis; CHCHD10; Familial; Sporadic; Aged; Amyotrophic Lateral Sclerosis; Cohort Studies; Female; Frontotemporal Dementia; Genetic Predisposition to Disease; Humans; Italy; Male; Middle Aged; Mitochondrial Proteins; Genetic Association Studies; MutationGenetic Association StudieDiseaseSettore MED/03 - GENETICA MEDICAmedicine.disease_causeCohort StudiesMitochondrial ProteinsExonFamilialmental disordersmedicineHumansMitochondrial ProteinDementiaGenetic Predisposition to DiseaseAmyotrophic lateral sclerosisAmyotrophic lateral sclerosis; CHCHD10; Familial; Sporadic; Aged; Amyotrophic Lateral Sclerosis; Cohort Studies; Female; Frontotemporal Dementia; Genetic Predisposition to Disease; Humans; Italy; Male; Middle Aged; Mitochondrial Proteins; Genetic Association Studies; Mutation; Neurology (clinical); Neuroscience (all); Aging; Developmental Biology; Geriatrics and GerontologyGenetic Association StudiesAmyotrophic lateral sclerosiAgedMutationNeuroscience (all)business.industryGeneral NeuroscienceMiddle AgedAmyotrophic lateral sclerosisSporadicmedicine.disease3. Good healthAmyotrophic lateral sclerosis; CHCHD10; Familial; SporadicCHCHD10ItalyFrontotemporal DementiaMutationCohortFemaleNeurology (clinical)Cohort StudieGeriatrics and GerontologybusinessHumanDevelopmental BiologyFrontotemporal dementiaCohort studyNeurobiology of Aging
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C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.

2012

It has been recently reported that a large proportion of patients with familial amyotrophic lateral sclerosis (familial ALS) and frontotemporal dementia (FTD) are associated with a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72. We have assessed 1,757 Italian sporadic ALS cases, 133 from Sardinia, 101 from Sicily, and 1,523 from mainland Italy. Sixty (3.7%) of 1,624 mainland Italians and Sicilians and 9 (6.8%) of the 133 Sardinian sporadic ALS cases carried the pathogenic repeat expansion. None of the 619 regionally-matched control samples (1,238 chromosomes) carried the expansion. Twenty-five cases (36.2%) had behavioral FTD in addition to ALS. FTD or unspecified d…

MaleAgingSurvivalPedigree chartSettore MED/03 - GENETICA MEDICARepetitive Sequences0302 clinical medicineC9orf72Polymorphism (computer science)Risk FactorsPrevalenceAmyotrophic lateral sclerosisGenetics0303 health scienceseducation.field_of_studyGeneral NeuroscienceSingle NucleotideMiddle Aged3. Good healthSettore MED/26 - NEUROLOGIAItalyFemaleSettore MED/26 - NeurologiaFrontotemporal dementiaFrontotemporal dementiaGenetic MarkersPopulationC9ORF72BiologyPolymorphism Single NucleotideArticle03 medical and health sciencesmedicineHumansGenetic Predisposition to DiseasePolymorphismeducationamyotrophic lateral sclerosis; C9orf672; frontotemporal dementia; survivalAmyotrophic lateral sclerosi030304 developmental biologyRepetitive Sequences Nucleic AcidAmyotrophic lateral sclerosis; C9ORF72; sporadicC9orf72 ProteinNucleic AcidAmyotrophic lateral sclerosis C9ORF72 Frontotemporal dementia SurvivalGenetic VariationProteinsmedicine.diseaseAmyotrophic lateral sclerosisC9orf672C9orf72 ProteinAmyotrophic lateral sclerosis; C9ORF72; Frontotemporal dementia; Survival;Settore BIO/18 - GeneticasporadicNeurology (clinical)Geriatrics and GerontologyALSTrinucleotide repeat expansion030217 neurology & neurosurgeryDevelopmental Biology
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Influenza vaccination reduces dementia risk: A systematic review and meta-analysis

2021

Animal models have indicated that influenza vaccination may prevent or delay the onset of dementia. However, the epidemiological evidence in human beings is still limited. Given this background, this systematic review and meta-analysis aimed to summarize the current state of the art of observational studies investigating the association between influenza vaccination and the risk of dementia. We searched Scopus and Pubmed/Medline until 24 September 2021 for studies investigating the risk of dementia by influenza vaccination status. After adjustment for potentially important confounding variables, data were reported as risk ratios (RRs) with 95% confidence intervals (CIs). Among 273 articles …

MaleAgingmedicine.medical_specialtyPediatricsLower riskPrevention of dementiaBiochemistryEpidemiologyInfluenza Human80 and overmedicineDementiaHumansMolecular BiologyAgedAged 80 and overbusiness.industryConfoundingVaccinationmedicine.diseaseInfluenzaVaccinationMeta-analysisObservational Studies as TopicNeurologyMeta-analysisRelative riskSystematic reviewInfluenza Vaccination Dementia Systematic review Meta-analysisDementiaFemalebusinessDementia; Influenza; Meta-analysis; Systematic review; Vaccination; Aged; Aged 80 and over; Female; Humans; Male; Observational Studies as Topic; Vaccination; Dementia; Influenza HumanHumanBiotechnology
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Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide.

2013

The C9ORF72 Spanish Study Group, et al.

MaleChinaHeterozygoteDNA Mutational AnalysisChromosome 9Kaplan-Meier EstimateBiologyPolymorphism Single NucleotideAsian PeopleGene FrequencyJapanC9orf72GeneticsmedicineEthnicityHumansGenetic Predisposition to DiseaseFamily historyAlleleAmyotrophic lateral sclerosisGenetics (clinical)AgedGeneticsAged 80 and overDNA Repeat ExpansionC9orf72 ProteinHaplotypeAmyotrophic Lateral SclerosisProteinsmedicine.diseaseEuropeHaplotypesSpainAfricaMutationFemaleTrinucleotide repeat expansionFrontotemporal dementia
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The symptom of low mood in the prodromal stage of mild cognitive impairment and dementia: a cohort study of a community dwelling elderly population.

2011

Objective: To investigate the symptom of low mood as a predictor of mild cognitive impairment (MCI) and its progression to dementia, taking into account: i) MCI severity, ii) time of assessment, iii) interaction with other factors. Methods: 764 cognitively healthy elderly living in the community, from the Kungsholmen Project. Participants were assessed by direct interview to detect low mood. Subjects were then followed for six years to identify those who developed MCI. People with incident MCI were followed for a further three years to assess progression to dementia. Results: People with low mood at baseline had a 2.7-fold (95% Confidence Interval [CI] 1.9-3.7) increased risk of developing …

MaleDatabases FactualApolipoprotein E4behavioral disciplines and activitiesProdromeCohort Studiesmild cognitive impairmentmental disordersmedicinedepression; epidemiology; mild cognitive impairment; dementiaDementiaHumansCognitive declineAgedSex CharacteristicsMood DisordersCognitive disorderProdromal StageCognitionmedicine.diseaseDiagnostic and Statistical Manual of Mental DisordersPsychiatry and Mental healthMoodData Interpretation StatisticaldepressionDisease ProgressionEducational StatusRegression AnalysisSurgeryepidemiologySettore MED/26 - NeurologiaDementiaFemaleNeurology (clinical)AmnesiaPsychologyCognition DisordersCohort studyClinical psychologyFollow-Up StudiesJournal of neurology, neurosurgery, and psychiatry
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Relationship between mobility and cognitive impairment in patients with Alzheimer's disease.

2019

Alzheimer's disease (AD) is usually accompanied by impairments to mobility, performance of the basic activities of daily life (ADL), and progressive cognitive decline. We analyzed the relationship between cognitive performance and related cognitive subdomains and mobility.All AD patients of the recruited individuals were living in nursing homes; they underwent a blood analysis, cognitive examination by using the Mini-Mental State Examination, functional evaluation of independence in the ADLs with Barthel score and Katz index, and mobility assessment with the elderly mobility scale.The mean sample age was 84 years and majority were women; more than 60% of the participants had severe cognitiv…

MaleDiseaseOverweight03 medical and health sciences0302 clinical medicineAlzheimer DiseaseActivities of Daily LivingmedicineDementiaHumansCognitive DysfunctionEffects of sleep deprivation on cognitive performanceLongitudinal StudiesObesityKatz indexMobility LimitationCognitive impairmentAgedAged 80 and overSex Characteristicsmedicine.diagnostic_testbusiness.industryCholesterol HDLCognitionGeneral MedicineOverweightmedicine.diseaseMental Status and Dementia TestsLipids030220 oncology & carcinogenesisSurgeryFemaleNeurology (clinical)medicine.symptomLipid profilebusiness030217 neurology & neurosurgeryPsychomotor PerformanceClinical psychologyClinical neurology and neurosurgery
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Lexical and conceptual components of stem completion priming in patients with Alzheimer's disease

1999

This study evaluated the hypothesis of dissociation between normal lexical but deficient conceptual repetition priming in patients with Alzheimer's disease (AD). For this purpose, we administered to patients with AD and age-matched normal controls the Stem Completion task. In Experiment 1, the level of word processing during study was manipulated by requiring subjects to count vowels (graphemic condition) or generate meanings (semantic condition) of target words. In Experiment 2, the presentation modality was varied during the study to obtain an intramodal and crossmodal repetition priming. Probably due to a floor effect of performance in the graphemic condition, in Experiment 1, AD patient…

MaleDissociation (neuropsychology)Cognitive NeuroscienceConcept FormationWord processingRepetition primingExperimental and Cognitive PsychologyAssociationBehavioral NeuroscienceMemoryAlzheimer DiseasemedicineHumansMemory disorderIntramodal dispersionAgedAnalysis of VarianceAlzheimer's dementiaCrossmodalMiddle Agedmedicine.diseaseSemanticsRepetition primingAnalysis of Variance; Reading; Association; Humans; Alzheimer Disease; Aged; Mental Recall; Cognition Disorders; Semantics; Concept Formation; Speech Perception; Practice (Psychology); Cues; Case-Control Studies; Middle Aged; Female; MaleReadingPractice PsychologicalPractice (Psychology)Case-Control StudiesMental RecallSpeech PerceptionFemaleSettore MED/26 - NeurologiaImplicit memoryCuesPsychologyCognition DisordersPriming (psychology)Cognitive psychology
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Therapeutic Drug Monitoring for Patients With Alzheimer Dementia to Improve Treatment With Donepezil

2015

BACKGROUND Aiming to verify that therapeutic drug monitoring has the potential to optimize treatment with acetylcholine esterase inhibitors of patients with Alzheimer dementia, this study investigated whether serum concentrations of donepezil are associated with clinical improvement. METHODS Clinical improvement was measured using the clinical global impression (CGI) scale, and donepezil concentrations were measured in serum by a high-performance liquid chromatographic method with spectrophotometric detection. RESULTS In total, 206 serum samples from 106 patients (49.5% female) were retrospectively available for analysis. Patients included were treated under everyday conditions. Their mean …

MaleDrugmedicine.medical_specialtymedia_common.quotation_subjectGastroenterologyPiperidinesAlzheimer DiseaseInternal medicinemental disordersmedicineHumansDonepezilPharmacology (medical)DonepezilAgedRetrospective Studiesmedia_commonPharmacologyDose-Response Relationship DrugReceiver operating characteristicmedicine.diagnostic_testbusiness.industryRetrospective cohort studyAlzheimer dementiaDose–response relationshipTreatment OutcomeTherapeutic drug monitoringIndansClinical Global ImpressionFemaleCholinesterase InhibitorsDrug Monitoringbusinessmedicine.drugTherapeutic Drug Monitoring
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The role of mind theory in patients affected by neurodegenerative disorders and impact on caregiver burden

2020

Abstract Background Theory of Mind (ToM) is defined as the ability to understand mental and emotional state. This ability is assessed also in neurodegenerative disease. Few studies have investigated the impact that social cognition of patients could have on caregiver burden. The aim of this study was to investigate a possible correlation in level of social cognition impairment between patients with different neurodegenerative disorders and their caregivers with possible impact on caregivers burden. Methods we enrolled 48 patients with dementia divided in different groups: Fronto-Temporal Dementia (FTD), Alzheimer Disease (AD), and Mild Cognitive Impairment (MCI) and also the three groups of…

MaleEmotionsTheory of MindDiseaseFronto-temporal dementia03 medical and health sciences0302 clinical medicineSocial cognitionAlzheimer DiseasePhysiology (medical)Theory of mindmental disordersActivities of Daily Livingmedicine80 and overDementiaHumansIn patientCognitive DysfunctionAlzheimer disease; Caregiver; Dementia; Fronto-temporal dementia; Mild cognitive impairment; Theory of mind; Activities of Daily Living; Aged; Aged 80 and over; Alzheimer Disease; Caregivers; Cognitive Dysfunction; Emotions; Female; Frontotemporal Dementia; Humans; Male; Middle Aged; Neurodegenerative Diseases; Theory of MindAgedAged 80 and overbusiness.industryMild cognitive impairmentNeurodegenerative DiseasesGeneral MedicineCaregiver burdenMiddle Agedmedicine.diseaseCaregiverDistressNeurologyCaregivers030220 oncology & carcinogenesisFrontotemporal DementiaSurgeryDementiaFemaleNeurology (clinical)Alzheimer's diseasebusiness030217 neurology & neurosurgeryClinical psychology
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Interplay between cognition and weight reduction in individuals following a Mediterranean Diet: Three-year follow-up of the PREDIMED-Plus trial

2021

Background & aims: Some cognitive profiles might facilitate successful weight loss and its maintenance. Also, weight reductions may result in cognitive benefits. However, little work to date has examined the interactions between cognition and weight changes in the context of interventions with the Mediterranean diet (MedDiet). We studied the within-subject longitudinal relationships between cognition, body mass index (BMI), physical activity (PA), and quality of life (QoL), in older adults following a MedDiet. Methods: The PREDIMED-Plus is a primary prevention trial testing the effect of a lifestyle intervention program with an energy-restricted MedDiet (er-MedDiet), weight-loss goals and P…

MaleGerontologyOverweightDiet MediterraneanCritical Care and Intensive Care MedicineBody Mass IndexNutrition PolicyCognitionQuality of lifeMemoryWeight lossMediterranean dietWeight LossmedicineHumansLongitudinal StudiesObesityEffects of sleep deprivation on cognitive performanceExerciseAgedNutritionMetabolic SyndromeNutrition and Dieteticsbusiness.industryPreventionCognitionOverweightMental Status and Dementia TestsExecutive functionsTreatment OutcomeQuality of LifeFemaleGuideline Adherencemedicine.symptomVerbal memorybusinessNeurocognitiveFollow-Up StudiesClinical Nutrition
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