0000000001246205

AUTHOR

Mr Monsurrò

showing 4 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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The MITOS system predicts long-term survival in amyotrophic lateral sclerosis

2015

ObjectiveThe choice of adequate proxy for long-term survival, the ultimate outcome in randomised clinical trials (RCT) assessing disease-modifying treatments for amyotrophic lateral sclerosis (ALS), is a key issue. The intrinsic limitations of the ALS Functional Rating Scale-Revised (ALSFRS-R), including non-linearity, multidimensionality and floor-effect, have emerged and its usefulness argued. The ALS Milano-Torino staging (ALS-MITOS) system was proposed as a novel tool to measure the progression of ALS and overcome these limitations. This study was performed to validate the ALS-MITOS as a 6-month proxy of survival in 200 ALS patients followed up to 18 months.MethodsAnalyses were performe…

MalePredictive Value of TestWalkingLogistic regressionALS; MOTOR NEURON DISEASE; NEUROMUSCULAR; RANDOMISED TRIALS; Adult; Aged; Amyotrophic Lateral Sclerosis; Communication; Deglutition; Disability Evaluation; Disease Progression; Double-Blind Method; Female; Humans; Male; Middle Aged; Noninvasive Ventilation; Predictive Value of Tests; ROC Curve; Respiration; Self Care; Survival Analysis; Walking; Neurology (clinical); Psychiatry and Mental Health; Surgery; Arts and Humanities (miscellaneous); Medicine (all)law.inventionALS long-term survival ALSFRS-RDisability EvaluationRandomized controlled triallawNEUROMUSCULARAmyotrophic lateral sclerosisMOTOR NEURON DISEASEALS; MOTOR NEURON DISEASE; NEUROMUSCULAR; RANDOMISED TRIALS; Neurology (clinical); Psychiatry and Mental Health; Surgery; Arts and Humanities (miscellaneous)CommunicationRespirationMedicine (all)Area under the curveMiddle Agedals motor neuron disease neuromuscular randomised trialsPsychiatry and Mental HealthPredictive value of testsDisease ProgressionSettore MED/26 - NeurologiaFemaleSurvival AnalysiHumanAdultmedicine.medical_specialtyNOSwallowingDouble-Blind MethodArts and Humanities (miscellaneous)Predictive Value of TestsInternal medicinemedicineRANDOMISED TRIALSHumansSurvival analysisAgedNoninvasive VentilationReceiver operating characteristicbusiness.industryAmyotrophic Lateral Sclerosisals; motor neuron disease; neuromuscular; randomised trials; adult; aged; amyotrophic lateral sclerosis; communication; deglutition; disability evaluation; disease progression; double-blind method; female; humans; male; middle aged; noninvasive ventilation; predictive value of tests; roc curve; respiration; self care; survival analysis; walking; neurology clinical; psychiatry and mental health; surgery; arts and humanities ; medicinemedicine.diseaseSurvival AnalysisSurgeryDeglutitionSelf CareALS; MOTOR NEURON DISEASE; NEUROMUSCULAR; RANDOMISED TRIALS; Adult; Aged; Amyotrophic Lateral Sclerosis; Communication; Deglutition; Disability Evaluation; Disease Progression; Double-Blind Method; Female; Humans; Male; Middle Aged; Noninvasive Ventilation; Predictive Value of Tests; ROC Curve; Respiration; Self Care; Survival Analysis; Walking; Surgery; Arts and Humanities (miscellaneous); Neurology (clinical); Psychiatry and Mental HealthROC CurveSurgeryNeurology (clinical)ALSbusinessAmyotrophic Lateral Sclerosi
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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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Erythropoietin in amyotrophic lateral sclerosis: a multicentre, randomized, double blind, placebo controlled, phase III study.

2015

Objective To assess the efficacy of recombinant human erythropoietin (rhEPO) in amyotrophic lateral sclerosis (ALS). Methods Patients with probable laboratory-supported, probable or definite ALS were enrolled by 25 Italian centres and randomly assigned (1:1) to receive intravenous rhEPO 40 000 IU or placebo fortnightly as add-on treatment to riluzole 100 mg daily for 12 months. The primary composite outcome was survival, tracheotomy or >23 h non-invasive ventilation (NIV). Secondary outcomes were ALSFRS-R, slow vital capacity (sVC) and quality of life (ALSAQ-40) decline. Tolerability was evaluated analysing adverse events (AEs) causing withdrawal. The randomisation sequence was computer-…

MaleGastroenterologylaw.inventionRandomized controlled triallaw1506Amyotrophic lateral sclerosisMOTOR NEURON DISEASEeducation.field_of_studyRecombinant ProteinMiddle AgedRecombinant ProteinsTreatment OutcomePsychiatry and Mental HealthNeuromuscularSettore MED/26 - NeurologiaFemaleerythropoietyn clinical trialmedicine.drugHumanALS; MOTOR NEURON DISEASE; Adult; Aged; Amyotrophic Lateral Sclerosis; Double-Blind Method; Erythropoietin; Female; Humans; Male; Middle Aged; Recombinant Proteins; Treatment OutcomeAdultmedicine.medical_specialtyPopulationSocio-culturalePlaceboDouble blindALS; erythropoietyn clinical trialDouble-Blind MethodArts and Humanities (miscellaneous)ALS; MOTOR NEURON DISEASE; Adult; Aged; Amyotrophic Lateral Sclerosis; Double-Blind Method; Epoetin Alfa; Erythropoietin; Female; Humans; Male; Middle Aged; Recombinant Proteins; Treatment Outcome; Neurology (clinical); Psychiatry and Mental Health; Surgery; Arts and Humanities (miscellaneous)Internal medicinemedicineALS; MOTOR NEURON DISEASEHumanseducationErythropoietinAgedbusiness.industryAmyotrophic Lateral SclerosisEpoetin alfamedicine.diseaseSurgeryClinical trialEpoetin AlfaErythropoietinSurgeryNeurology (clinical)ALSbusinessAmyotrophic Lateral Sclerosi
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