Author(s): Haack, Tobias, MD, Klopstock, Prof. Thomas, MD, Bender, Prof. Andreas, MD, Rolfs, Prof. Arndt, MD, Friday, Douglas
Here we report the documented course over 27 years of a case of AOA2 and a novel homozygous stop mutation p.R1778X in the SETX gene. Read more!
Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive cerebellar ataxia associated with mutations in the senataxin (SETX) gene coding for the ortholog of a yeast DNA/RNA helicase [7]. Here we report the documented course over 27 years of a case of AOA2 and a novel homozygous stop mutation p.R1778X in the SETX gene.
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