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 |
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