General description

Early onset ataxia with oculomotor apraxia and hypoalbuminemia (EAOH) is an autosomal recessive disorder resulting from mutations in the APTX gene encoding the aprataxin (APTX) protein.

The typical clinical presentation manifests during early childhood, characterized by slowly progressive cerebellar ataxia, oculomotor apraxia, and peripheral neuropathy associated with absent deep tendon reflexes, muscular weakness, and muscular atrophy.

A hallmark laboratory finding in EAOH is marked hypoalbuminemia accompanied by hypercholesterolemia.