GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneATXN2
Other namesATX2; SCA2; TNRC13; FLJ46772; ATXN2
Gene nameataxin 2
Gene inheritanceSALS genes
Discovery methodCandidate gene
CategoryOXIDATIVE STRESS
Chromosome12q23-q24.1
Genomic CoordinatesChr12:111890018-112037480 ( -)
Background(ATXN2), a polyglutamine (polyQ) protein mutated in spinocerebellar ataxia type 2, is a potent modifier of TDP-43 toxicity in animal and cellular models
Resultintermediate-length polyQ expansions (27–33 glutamines) in ATXN2 were significantly associated with ALS
Total Mutations9
Total Affected33
FALSSALSMaleFemaleBulbarLimbNo dataMean age onsetN
626181423066032

BIOINFORMATICS

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TOP META-ANALYSIS RESULT FROM ALSGENE

For more details on this and other meta-analysis results in this region please visit the ALSGene database

ANIMAL MODELS

                               

KEY PUBLICATIONS (12)

First_AuthorYearTitlePaper
Corrado2011ATXN-2 CAG repeat expansions are interrupted in ALS patientsFull_Paper
Daoud2011Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALSFull_Paper
Elden2010Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALSFull_Paper
Laffita-Mesa2013De novo mutations in ataxin-2 gene and ALS riskFull_Paper
Lee2011Ataxin-2 intermediate-length polyglutamineFull_Paper
Liu2010Amyotrophic Lateral Sclerosis and Spinocerebellar Ataxia Type 2 in a Family With Full CAG Repeat Expansions of ATXN2Full_Paper
Ross2010Amyotrophic Lateral Sclerosis and Spinocerebellar Ataxia Type 2 in a Family With Full CAG Repeat Expansions of ATXN2Full_Paper
Ross2011Ataxin-2 repeat-length variation and neurodegenerationFull_Paper
Soraru2011ALS risk but not phenotype is affected by ataxin-2 intermediate length polyglutamine expansionFull_Paper
Tazen2010Amyotrophic Lateral Sclerosis and Spinocerebellar Ataxia Type 2 in a Family With Full CAG Repeat Expansions of ATXN2Full_Paper
Van Damme2011Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALSFull_Paper
Van Damme2011Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2Full_Paper