0000000001143317

AUTHOR

M. A. Sotgiu

showing 2 related works from this author

Multiple sclerosis in twins from continental Italy and Sardinia: a nationwide study.

2005

Knowledge about the balance between heritable and nonheritable risk in multiple sclerosis (MS) is based on twin studies in high-prevalence areas. In a study that avoided ascertainment limitations and directly compared continental Italy (medium-prevalence) and Sardinia (high-prevalence), we ascertained 216 pairs from 34,549 patients. This gives a twinning rate of 0.62% among MS patients, significantly less than that of the general population. In continental Italy, probandwise concordance was 14.5% (95% confidence interval, 5.1-23.8) for monozygotic and 4.0% (95% confidence interval, 0.8-7.1) for dizygotic twins. Results in Sardinia resemble those in northern populations but in limited number…

MaleQuestionnairesMultiple SclerosisConcordancePopulationTwinsDizygotic twinsDisease causeMultiple Sclerosis Epidemiology TwinsCohort StudiesCohort Studies Disease Susceptibility Female Genetic Predisposition to Disease Humans Italy; epidemiology Male Multiple Sclerosis; epidemiology/genetics Questionnaires Regression Analysis TwinsSurveys and QuestionnairesmedicineHumansGenetic Predisposition to Diseaseeducationeducation.field_of_studyepidemiology/geneticsbusiness.industryMultiple sclerosismedicine.diseasePenetranceTwin studyConfidence intervalNeurologyItalyRegression AnalysisSettore MED/26 - NeurologiaFemaleepidemiologyNeurology (clinical)Disease SusceptibilitybusinessDemography
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Genetic counselling in ALS: facts, uncertainties and clinical suggestions

2013

The clinical approach to patients with amyotrophic lateral sclerosis (ALS) has been largely modified by the identification of novel genes, the detection of gene mutations in apparently sporadic patients, and the discovery of the strict genetic and clinical relation between ALS and frontotemporal dementia (FTD). As a consequence, clinicians are increasingly facing the dilemma on how to handle genetic counselling and testing both for ALS patients and their relatives. On the basis of existing literature on genetics of ALS and of other late-onset life-threatening disorders, we propose clinical suggestions to enable neurologists to provide optimal clinical and genetic counselling to patients and…

medicine.medical_specialtyGenotypeGENETICSGenetic counselingGenetic CounselingGene mutationSettore MED/03 - GENETICA MEDICAmedicineHumansGenetic TestingAmyotrophic lateral sclerosisGenetic discriminationPsychiatryGenetic testingmedicine.diagnostic_testbusiness.industryAmyotrophic Lateral Sclerosismedicine.diseasePenetranceALS; GENETICS3. Good healthPsychiatry and Mental healthPhenotypeFrontotemporal DementiaMutationSurgerySettore MED/26 - NeurologiaNeurology (clinical)ALSbusinessMotor neurone diseaseFrontotemporal dementiaJournal of Neurology, Neurosurgery & Psychiatry
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