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ataxia-oculomotor apraxia
MIM.208920 9p13.3
Sunday 20 April 2008
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).
