Ataxia-Oculomotor Apraxia Type 1

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive cerebellar ataxia caused by mutation(s) in the APTX gene, encoding aprataxin. It is characterized by peripheral axonal neuropathy, oculomotor apraxia, and hypoalbuminemia.

**Synonyms:** - AOA1 - Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia - EAOH