A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia. The disease is ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (MONDO_0008842, a Monarch Disease Ontology entry). Also known as: AOA1, APTX oculomotor apraxia or related oculomotor disease, ataxia with oculomotor apraxia type 1, oculomotor apraxia or related oculomotor disease caused by mutation in APTX.