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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 deletion in SETX exon 21. Immunocytochemistry of patient-derived fibroblasts revealed a normal cellular distribution of the senataxin protein, suggesting that these mutations do not lead to loss or mis-localization of the protein, but rather that aberrant function of senataxin underlies the disease pathogenesis. Furthermore, we used the alkaline comet assay to demonstrate that patient-derived fibroblast cells exhibit an increased susceptibility to oxidative DNA damage. This assay provides a novel and additional means to establish pathogenicity of SETX mutations.

Original publication




Journal article


J Clin Neurosci

Publication Date





1627 - 1631


AOA2, Autosomal recessive cerebellar ataxia, DNA repair, Helicase, Senataxin, Apraxias, Brain, Cell Nucleus, Cells, Cultured, Cerebellar Ataxia, Cogan Syndrome, Colombia, DNA Damage, DNA Helicases, Female, Fibroblasts, Forearm, Frameshift Mutation, Humans, Middle Aged, Multifunctional Enzymes, Mutation, Missense, Oxidative Stress, Pedigree, Phenotype, RNA Helicases