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Article

Genetic variance in the spinocerebellar ataxia type 2 (ATXN2) gene in children with severe early onset obesity.

PloS one - 14 Dec 2009

Figueroa Karla P, Farooqi Sadaf, Harrup Kristopher, Frank Johnathan, O'Rahilly Stephen, Pulst Stefan M

Abstract excerpt

BACKGROUND: Expansion of a CAG repeat in the coding region of exon 1 in the ATXN2 gene located in human chromosome 12q24.1 causes the neurodegenerative disease spinocerebellar ataxia type 2 (SCA2). In contrast to other polyglutamine (polyQ) disorders, the SCA2 repeat is not highly polymorphic in central European (CEU) controls with Q22 representing 90% of alleles, and Q23 contributing between 5-7% of alleles....

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Source

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Identifiers

PMID: 20016785
DOI: 10.1371/journal.pone.0008280
PMCID: PMC2791421

Genes

ATXN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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