- Human pathology

Home > E. Pathology by systems > Nervous system > Central nervous system > ataxia-oculomotor apraxia

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.


- Ataxia-oculomotor apraxia syndrome (AOA) can be caused by mutation in the gene encoding aprataxin (APTX) (MIM.606350).