6533b861fe1ef96bd12c5a4b
RESEARCH PRODUCT
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.
Sabatellia Mario Francesca Luisa ConfortiZollinoc MarcellaMorad Gabriele Maria Rosaria MonsurròVolanti PaoloMarinoud KalliopiSalvig FabrizioCorbo MassimoGiannini FabioBattistini StefaniaPenco SilvanaLunetta ChristianQuattrone AldoGambardella AntonioLogroscino GiancarloSimone IsabellaBartolomei IlariaPisano FabrizioTedeschi GioacchinoConte AmeliaSpataro Rossella Vincenzo La BellaCaponnetto ClaudiaMancardi GianluigiMandich PaolaSola PatriziaMandrioli JessicaAlan E. RentonMajounie ElisaAbramzon YevgeniyaMarrosu Francesco Maria Giovanna Marrosu Maria Rita Murru Maria Alessandra SotgiuPugliatti MauraCarmelo Rodolico The Italsgen Consortium: Stefania CammarosanoFuda GiuseppeCanosa AntonioGallo SaraPapetti Laura Giuseppe Lauria PinterLuigetti MarcoLattante SerenaMarangi GiuseppeColletti TizianaRicci ClaudiaOrigone PaolaFloris GianlucaCannas AntoninoPiras ValeriaCostantino EmanuelaPani CarlaLeslie D. ParishCossu PaolaSolinas GiulianaUlgheri LuciaTicca AnnaIzzo FrancescoLaiola AnnaTrojsi FrancescaSimona PortaroSproviero WilliamMoglia CristinaCalvo AndreaOssola IreneBrunetti MauraBryan J. TraynorBorghero GiuseppeRestagno GabriellaChiò Adrianosubject
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 Biologydescription
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 dementia was also detected in 19 pedigrees (27.5%) in first-degree relatives of ALS patients. Cases carrying the C9ORF72 hexanucleotide expansion survived one year less than cases who did not carry this mutation. In conclusion, we found that C9ORF72 hexanucloetide repeat expansions represents a sizeable proportion of apparent sporadic ALS in the Italian and Sardinian population, representing by far the commonest mutation in Italy and the second more common in Sardinia.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2012-01-01 |