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Article

Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Sept 2014

Roda Ricardo H, Rinaldi Carlo, Singh Rajat, Schindler Alice B, Blackstone Craig

Abstract excerpt

Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive cerebellar ataxia associated with mutations in SETX, which encodes the senataxin protein, a DNA/RNA helicase. We describe the clinical phenotype and molecular characterization of a Colombian AOA2 patient who is compound heterozygous for a c.994 C>T (p.R332W) missense mutation in exon 7 and a c.6848_6851delCAGA (p.T2283KfsX32) frameshift...

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Identifiers

PMID: 24814856
DOI: 10.1016/j.jocn.2013.11.048
PMCID: PMC4127342

Genes

SETX

Variants

Provenance

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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