Ataxia with oculomotor apraxia type 1

Ataxia with oculomotor apraxia type 1, abbreviated AOA1 and also called early-onset ataxia with ocular motor apraxia and hypoalbuminemia, is a rare autosomal recessive disorder caused by mutations in the APTX gene. It usually begins with uncoordinated movements and ataxia at about age four, though onset can fall anywhere between two and ten. Affected people go on to develop oculomotor apraxia, dysarthric speech, myoclonic jerks, chorea, cognitive impairment and neuropathy, and most start using a wheelchair more than eleven years after onset. Blood tests can show raised cholesterol and creatine kinase and lowered albumin. The APTX gene codes for the protein aprataxin, which may help repair DNA. The disorder is most common in Japan and Portugal, and diagnosis is confirmed by genetic testing.