0000000000174238

AUTHOR

P Sola

showing 7 related works from this author

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9…

2012

A large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72, a gene located on chromosome 9p21, has been recently reported to be responsible for 40% of familial amyotrophic lateral sclerosis cases of European ancestry. The aim of the current article was to describe the phenotype of amyotrophic lateral sclerosis cases carrying the expansion by providing a detailed clinical description of affected cases from representative multi-generational kindreds, and by analysing the age of onset, gender ratio and survival in a large cohort of patients with familial amyotrophic lateral sclerosis. We collected DNA and analysed phenotype data for 141 index Italian familial amyotrophic l…

MaleParentsPathologyphenotype-genotype correlationCohort Studies0302 clinical medicineC9orf72amyotrophic lateral sclerosigeneticsAmyotrophic lateral sclerosisAge of Onsetamyotrophic lateral sclerosis; familial als; C9Orf72; phenotype-genotype correlation0303 health sciencesSex CharacteristicsDNA Repeat ExpansionAdult Age of Onset Aged Amyotrophic Lateral Sclerosis; genetics/pathology Cohort Studies DNA Repeat Expansion DNA; genetics Female Humans Italy Male Middle Aged Mutation; genetics Parents Pedigree Phenotype Proteins; genetics Sex Characteristics Survival AnalysisMiddle Aged3. Good healthPedigreeSettore MED/26 - NEUROLOGIAPhenotypeItalyC9Orf72Settore MED/26 - NeurologiaFemaleFrontotemporal dementiaAdultmedicine.medical_specialtySOD1BiologyTARDBP03 medical and health sciencesInternal medicinemedicineHumans030304 developmental biologyAgedamyotrophic lateral sclerosis familial ALS C9ORF72 gene phenotype–genotype correlationC9orf72 ProteinAmyotrophic Lateral Sclerosisgenetics/pathologyProteinsOriginal ArticlesDNAmedicine.diseaseSurvival AnalysisC9orf72 ProteinSettore BIO/18 - Geneticaamyotrophic lateral sclerosis; familial ALS C9ORF72 gene; phenotype-genotype correlation;MutationNeurology (clinical)Age of onsetTrinucleotide repeat expansionfamilial al030217 neurology & neurosurgery
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Acute myeloid leukemia in Italian patients with multiple sclerosis treated with mitoxantrone

2011

none 25 no Abstract OBJECTIVES: To evaluate the incidence and dose-dependency of mitoxantrone (MTX)-associated acute myelocytic leukemia (AML) in the network of Italian multiple sclerosis (MS) clinics. METHODS: We performed a multicenter retrospective cohort study of patients treated with MTX in MS centers under the Italian national health care system between 1998 and 2008. Demographic, disease, treatment, and follow-up information were collected using hospital records. RESULTS: Data were available for 3,220 patients (63% women) from 40 Italian centers. Follow-up (mean ± SD) was 49 ± 29 months (range 12-140 months). We observed 30 cases of AML (incidence 0.93% [95% confidence interval 0.60%…

Malemedicine.medical_specialtyMyeloidmitoxantrone; acute myelocytic leukemia; multiple sclerosisPopulationmultiple sclerosisStatistics NonparametricmitoxantroneFollow-Up StudieArts and Humanities (miscellaneous)Retrospective StudieInternal medicineMultiple SclerosimedicineHumansmultiple sclerosis leukemia mitoxantroneProspective cohort studyeducationRetrospective StudiesAgedAnalgesicseducation.field_of_studyMitoxantroneCumulative dosebusiness.industryMultiple sclerosisIncidence (epidemiology)leukemiaMyeloid leukemiaRetrospective cohort studymedicine.diseaseConfidence intervalSurgeryLeukemiaLeukemia Myeloid Acutemedicine.anatomical_structureItalyCohortSettore MED/26 - NeurologiaAnalgesicFemaleNeurology (clinical)acute myelocytic leukemiaMitoxantronebusinessFollow-Up Studiesmedicine.drugHuman
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Treatment of multiple sclerosis patients after 24 Natalizumab doses: a prospective observational study: the TY-STOP

2014

Multiple Sclerosis Natalizumab Ty-STOPSettore MED/26 - Neurologia
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Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation

2009

Recently, fused in sarcoma/translated in liposarcoma (FUS/TLS) gene, located on chromosome 16p11.2, has been identified as a disease gene in familial amyotrophic lateral sclerosis (FALS). We have analyzed FUS/TLS in a cohort of 52 index cases from seven Italian regions with non-SOD1 and non-TARDBP FALS. We identified a heterozygous c.G1542C missense mutation in a family of northern Italian origin, and a heterozygous c.C1574T missense mutation in a family of Sicilian origin. Both variants are located in exon 15 encoding the RNA-recognition motif, and result in a substitution of an arginine with a serine in position 514 (p.R514S) and substitution of a proline with a leucine at position 525 (p…

AdultMaleAgingamyotrophic lateral sclerosisAdolescentDNA Mutational AnalysisMutation MissenseBiologyArticleCohort StudiesExonYoung AdultDegenerative diseasemedicineMissense mutationHumansFamilygeneticsAmyotrophic lateral sclerosisAge of OnsetGeneamyotrophic lateral sclerosis; geneticsAgedGeneticsGeneral NeuroscienceMiddle Agedmedicine.diseasePhenotypePedigreePhenotypeSLA - FUS mutation - geneticsItalyMutationDisease ProgressionRNA-Binding Protein FUSFemaleSettore MED/26 - NeurologiaNeurology (clinical)Geriatrics and GerontologyAge of onsetMissenseAmyotrophic lateral sclerosis; Family pedigrees; FUS gene; Genetics;Developmental BiologyRNA-Binding Protein FUS
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Do patients' and referral centers' characteristics influence multiple sclerosis phenotypes? Results from the Italian multiple sclerosis and related d…

2022

Abstract Background Multiple sclerosis (MS) is characterized by phenotypical heterogeneity, partly resulting from demographic and environmental risk factors. Socio-economic factors and the characteristics of local MS facilities might also play a part. Methods This study included patients with a confirmed MS diagnosis enrolled in the Italian MS and Related Disorders Register in 2000–2021. Patients at first visit were classified as having a clinically isolated syndrome (CIS), relapsing–remitting (RR), primary progressive (PP), progressive-relapsing (PR), or secondary progressive MS (SP). Demographic and clinical characteristics were analyzed, with centers’ characteristics, geographic macro-ar…

Multiple SclerosisCenters’ characteristics; Italian Multiple Sclerosis Register; Multiple sclerosis phenotypes; Real-world dataSettore MED/42 - Igiene Generale e ApplicataItalian Multiple Sclerosis RegisterDermatologyGeneral MedicineMultiple Sclerosis Chronic ProgressiveSettore MED/26Settore SECS-S/04 - DemografiaCenters’ characteristicsMultiple sclerosis phenotypeReal-world dataSettore MED/01 - Statistica MedicaPsychiatry and Mental healthMultiple Sclerosis Relapsing-RemittingPhenotypeRecurrenceHumansFemaleSettore MED/26 - NeurologiaNeurology (clinical)Centers’ characteristicReferral and ConsultationMultiple sclerosis phenotypes
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TREATMENT CHOICE AFTER 24 NATALIZUMAB DOSES IN PATIENTS WITH MULTIPLE SCLEROSIS: A PROSPECTIVE OBSERVATIONAL STUDY, THE TY-STOP

2014

Multiple scleorsinatalizumabSettore MED/26 - Neurologia
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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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