Search results for "Ataxins"

showing 3 items of 3 documents

Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients.

2013

We developed a new application of comparative multiplex dosage analysis (CMDA) for evaluation of the ataxin 2 gene. Expansions of the triplet CAG can cause spinocerebellar ataxia type 2 (SCA2), a neurodegenerative disease with an autosomal-dominant mode of inheritance. Molecular diagnosis of SCA2 is routinely based on the use of conventional PCR to detect the CAG expansion. However, PCR does not amplify an allele with an expansion of many triplets (>80), which is typically found in infantile and juvenile forms of SCA2, thus leading to false negatives. We propose the analysis of the ATXN2 gene by CMDA to complement existing methods currently used for the detection of large expansions of the …

Malecongenital hereditary and neonatal diseases and abnormalitiesGenotypeGene DosagePrenatal diagnosisNerve Tissue ProteinsDiseaseAtaxin 2 Spinocerebellar ataxia type 2 Quantitative PCR Autosomal dominant Prenatal diagnosisSettore BIO/13 - Biologia ApplicataGeneticsMedicineHumansSpinocerebellar AtaxiasMultiplexAlleleMolecular BiologyGeneAllelesGeneticsbusiness.industryGeneral Medicinemedicine.diseaseReal-time polymerase chain reactionAtaxinsAtaxinCase-Control StudiesSpinocerebellar ataxiaFemalebusinessTrinucleotide Repeat ExpansionMultiplex Polymerase Chain ReactionGenetics and molecular research : GMR
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The ATXN1 and TRIM31 genes are related to intelligence in an ADHD background: evidence from a large collaborative study totaling 4,963 subjects

2010

Contains fulltext : 96400.pdf (Publisher’s version ) (Closed access) Intelligence is a highly heritable trait for which it has proven difficult to identify the actual genes. In the past decade, five whole-genome linkage scans have suggested genomic regions important to human intelligence; however, so far none of the responsible genes or variants in those regions have been identified. Apart from these regions, a handful of candidate genes have been identified, although most of these are in need of replication. The recent growth in publicly available data sets that contain both whole genome association data and a wealth of phenotypic data, serves as an excellent resource for fine mapping and …

cognitionCandidate genegenetic associationUbiquitin-Protein LigasesEuropean Continental Ancestry GroupIntelligencePopulationMedizinNerve Tissue ProteinsSingle-nucleotide polymorphismGenomic disorders and inherited multi-system disorders Functional Neurogenomics [IGMD 3]Quantitative trait locusBiologyPolymorphism Single NucleotideGenomeWhite PeopleNuclear FamilyGenomic disorders and inherited multi-system disorders [IGMD 3]Tripartite Motif ProteinsCohort Studies03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicineMeta-Analysis as TopicADHDHumansddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendalterseducationAtaxin-1Genetics (clinical)030304 developmental biologyGenetic associationGeneticsMental Health [NCEBP 9]0303 health scienceseducation.field_of_studyIntelligence quotientHuman intelligenceNuclear ProteinsALSPACPsychiatry and Mental healthPhenotypeAtaxinsAttention Deficit Disorder with Hyperactivitycandidate genesFunctional Neurogenomics [DCN 2]030217 neurology & neurosurgeryResearch Article
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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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