Search results for " C9ORF72"

showing 4 items of 4 documents

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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ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion

2015

Abstract There are indications that both familial amyotrophic lateral sclerosis (ALS) and sporadic ALS phenotype and prognosis are partly regulated by genetic and environmental factors, supporting the theory that ALS is a multifactorial disease. The aim of this article was to assess the role of ATXN2 intermediate length repeats in a large series of Italian and Sardinian ALS patients and controls carrying a pathogenetic C9ORF72 GGGGCC hexanucleotide repeat. A total of 1972 ALS cases were identified through the database of the Italian ALS Genetic consortium, a collaborative effort including 18 ALS centers throughout Italy. The study population included: (1) 276 Italian and 57 Sardinian ALS ca…

Male0301 basic medicineAgingC9ORF72Genetic Association Studie030105 genetics & heredityBiologySettore MED/03 - GENETICA MEDICA03 medical and health sciences0302 clinical medicineC9orf72medicineAlleleAmyotrophic lateral sclerosisAmyotrophic lateral sclerosiAgedAtaxin-2Regulator geneAmyotrophic lateral sclerosis; ATXN2; C9ORF72; Phenotype; Neuroscience (all); Medicine (all); Aging; Developmental Biology; Geriatrics and Gerontology; Neurology (clinical)GeneticsDNA Repeat ExpansionNeuroscience (all)ProteinMedicine (all)General NeuroscienceATXN2Middle AgedDNA Repeat Expansionmedicine.diseaseAmyotrophic lateral sclerosis3. Good healthC9orf72 ProteinAmyotrophic lateral sclerosis; ATXN2; C9ORF72; Phenotype; Neurology (clinical); Neuroscience (all); Aging; Developmental Biology; Geriatrics and GerontologyPhenotypeItalyPopulation studyFemaleSettore MED/26 - NeurologiaNeurology (clinical)Geriatrics and GerontologyTrinucleotide repeat expansion030217 neurology & neurosurgeryHumanDevelopmental Biology
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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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Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis.

2012

ABSTRACT Objective: Recent evidence suggests that intermediate-length polyglutamine (PolyQ) expansions in the ataxin-2 ( ATXN-2 ) gene are a risk factor for amyotrophic lateral sclerosis (ALS). This work was undertaken with the aim to investigate the frequency of ataxin-1 ( ATXN-1 ) and ATXN-2 PolyQ expansions in a cohort of patients with sporadic ALS (sALS) and patients with familial ALS (fALS) from southern Italy. Methods: We assessed the PolyQ lengths of ATXN-1 and ATXN-2 in 405 patients with sALS, 13 patients with fALS, and 296 unrelated controls without history of neurodegenerative disorders. Results: We found significantly higher intermediate PolyQ expansions ≥32 for ATXN-1 alleles an…

OncologyAdultMalemedicine.medical_specialtyGenotypeALS; ATXN-1; ATXN-2Ataxin 1Nerve Tissue ProteinsRisk FactorsInternal medicinemedicineHumansIn patientGenetic Predisposition to DiseaseAmyotrophic lateral sclerosisAlleleRisk factorAge of OnsetATXN-2ATXN-1AllelesAtaxin-1AgedAged 80 and overbiologybusiness.industryAmyotrophic Lateral SclerosisAge FactorsNuclear ProteinsMiddle Agedmedicine.diseaseIncreased riskPOLYGLUTAMINE EXPANSIONS; HEXANUCLEOTIDE REPEAT; ALS; TYPE-1; NEURODEGENERATION; PHENOTYPE; GENETICS; PROTEIN; C9ORF72; RISKAtaxinsItalyAtaxinCohortbiology.proteinFemaleSettore MED/26 - NeurologiaNeurology (clinical)ALSbusinessPeptidesTrinucleotide Repeat Expansion
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