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ALSoD is a joint project of World Federation of Neurology and European Network to Cure ALS. The work leading to these results has received funding from the European Community’s Health Seventh Framework Programme FP7/2007-2013 under grant agreement number 259867.
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GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneATXN2
Other namesATX2; SCA2; TNRC13; FLJ46772; ATXN2
Gene nameataxin 2
Gene inheritance categorySALS genes
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 Mutations1
Total Affected10
FALSSALSMaleFemaleBulbarLimbNo dataMean age onsetN
010461905710

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ANIMAL MODELS

                               
ALSGene: A database for amyotrophic lateral sclerosis genetic association studies developed by the Max Planck Institute for Molecular Genetics Berlin, the Alzheimer Research Forum and Prize4Life.  Last Update: 14th August 2011

KEY PUBLICATIONS (3)

First_AuthorYearTitlePaper
Elden2010Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALSFull_Paper
Lee2011Ataxin-2 intermediate-length polyglutamineFull_Paper
Van Damme2011Expanded ATXN2 CAG repeat size in ALSFull_Paper
 
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