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The Expansion of the CAG Repeat in Ataxin-2 is a Frequent Cause of Autosomal Dominant Spinocerebellar Ataxia Neurol 49:1009-1013, Lorenzetti,D.,et al, 1997 See this aricle in Pubmed Article Abstract The autosomal dominant spinocerebellar ataxias(ADSCAs)are a heterogeneous group of late-onset neurodegenerative disorders with overlapping clinical features.Genetic linkage studies have identified at least seven distinct loci for the ADSCAs,allowing the genetic classification of these disorders.The spinocerebellar ataxia type 2(SCA2)locus was mapped to chromosome 12,and a gene responsible for this disorder was recently isolated.The mutation causing SCA2 is an expansion of a trinucleotide CAG repeat contained within the coding region of a novel gene.We describe the results of genotypic analysis for the SCA2 repeat in individuals with ADSCA who were previously found negative for CAG repeat expansions in the SCA1,SCA3 or SCA6 genes.The expanded CAG repeat has been identified in 15 independent families.Repeat instability and anticipation were observed in two large kindreds.The SCA2 mutation was found in 18%of our ADSCA kindreds,confirming the high proportion of SCA2 among this group of disorders.

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(click to filter results - removes previous filter) acoustic neurinoma,bilateral ataxia ataxia,cerebellar ataxin ataxin-2 CAG repeats cerebellar ataxia,hereditary chromosomal abnormality chromosome 12 spinocerebellar ataxia spinocerebellar ataxia type 2 spinocerebellar degeneration trinucleotide repeats

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