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Article

Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2).

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 5 Mar 2010

Ramos Eliana Marisa, Martins Sandra, Alonso Isabel, Emmel Vanessa E, Saraiva-Pereira Maria Luiza, Jardim Laura Bannach, Coutinho Paula, Sequeiros Jorge, Silveira Isabel

Abstract excerpt

The spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease characterized by gait and limb ataxia. This disease is caused by the expansion of a (CAG)(n) located in the ATXN2, that encodes a polyglutamine tract of more than 34 repeats. Lately, alleles with 32-33 CAGs have been associated to late-onset disease cases. Repeat interruptions by CAA triplets are common in normal alleles,...

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PMID: 19676102
DOI: 10.1002/ajmg.b.31013

Genes

ATXN2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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