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Article

Factors associated with ATXN2 CAG/CAA repeat intergenerational instability in Spinocerebellar ataxia type 2.

Clinical genetics - 1 Oct 2018

Almaguer-Mederos L E, Mesa J M L, González-Zaldívar Y, Almaguer-Gotay D, Cuello-Almarales D, Aguilera-Rodríguez R, Falcón N S, Gispert S, Auburger G, Velázquez-Pérez L

Abstract excerpt

Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disorder caused by the unstable expansion of a cytosine-adenine-guanine (CAG)/cytosine-adenine-adenine (CAA) repeat in the ATXN2 gene, which normally encodes 22 glutamines (Q22). A large study was conducted to characterize the CAG/CAA repeat intergenerational instability in SCA2 families. Large normal alleles (Q24-31) were significantly more unstable...

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Identifiers

PMID: 29756284
DOI: 10.1111/cge.13380

Genes

ATXN2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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