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Ataxias with oculomotor apraxia (AOAs)

Ataxias with oculomotor apraxia (AOAs)
Disorder Distinguishing features Gene or locus Protein
AOA1/EAOH* Ataxia, oculomotor apraxia, hypoalbuminemia APTX Aprataxin
AOA2/SCAN2 Gait ataxia, sensorimotor neuropathy, oculomotor apraxia, elevated AFP SETX Senataxin
AOA3 Ataxia, oculomotor apraxia, dysmetria, dysarthria PIK3R5 Phosphoinositide-3-kinase regulatory subunit 5
AOA4* Ataxia, oculomotor apraxia, dystonia PNKP Polynucleotide kinase 3'-phosphatase
EAOH: early-onset ataxia with oculomotor apraxia and hypoalbuminemia; SCAN: spinocerebellar ataxia with neuropathy; AFP: alpha-fetoprotein.
* Also categorized as an ataxia syndrome caused by impaired DNA repair mechanisms.
Data from: Online Mendelian Inheritance in Man.
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