Ataxia-oculomotor apraxia syndrome is an early-onset autosomal recessive cerebellar ataxia with peripheral axonal neuropathy, oculomotor apraxia (defined as the limitation of ocular movements on command), and hypoalbuminemia.
Etiology
Ataxia-oculomotor apraxia syndrome (AOA) can be caused by mutation in the gene encoding aprataxin (APTX) (MIM.606350).