0000000001050144

AUTHOR

S Traccis

showing 2 related works from this author

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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The Italian multiple sclerosis register

2019

The past decade has seen extraordinary increase in worldwide availability of and access to several large multiple sclerosis (MS) databases and registries. MS registries represent powerful tools to provide meaningful information on the burden, natural history, and long-term safety and effectiveness of treatments. Moreover, patients, physicians, industry, and policy makers have an active interest in real-world observational studies based on register data, as they have the potential to answer the questions that are most relevant to daily treatment decision-making. In 2014, the Italian MS Foundation, in collaboration with the Italian MS clinical centers, promoted and funded the creation of the …

Register (sociolinguistics)AdultMaleKnowledge managementDatabases FactualEpidemiologymedia_common.quotation_subjectDisease epidemiologyEpidemiology; Multiple sclerosis; Quality of care; RegisterLongitudinal StudieDermatologyNOCohort StudiesMultiple sclerosisDatabases03 medical and health sciences0302 clinical medicineMultiple SclerosiHumansQuality (business)Longitudinal Studies030212 general & internal medicineRegistriesEpidemiology Multiple sclerosis Quality of care Register Adult Cohort Studies Data Collection Databases Factual Female; Humans Italy; Longitudinal Studies Male Multiple Sclerosis RegistriesQuality of careFactualmedia_commonData collectionbusiness.industryData CollectionQuality of careCorrectionEpidemiology; Multiple sclerosis; Quality of care; Register; Adult; Cohort Studies; Data Collection; Databases Factual; Female; Humans; Italy; Longitudinal Studies; Male; Multiple Sclerosis; RegistriesGeneral MedicineRegisterItalyRegister dataPsychiatry and Mental HealthObservational studyOriginal ArticleSettore MED/26 - NeurologiaFemaleBusinessNeurology (clinical)Cohort Studie030217 neurology & neurosurgeryEpidemiology; Multiple sclerosis; Quality of care; Register; 2708; Neurology (clinical); Psychiatry and Mental Health2708Human
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