Search results for "ATXN-1"

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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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