Two cases of ataxia with oculomotor apraxia type 1 (AOA1) without muscle coenzyme Q10 deficiency

Background: Mutations in the aprataxin gene (APTX) cause early onset ataxia with oculomotor apraxia type 1 (AOA1), an autosomal recessive disorder associated with cerebellar atrophy, axonal sensorimotor neuropathy, hypoalbuminaemia and hypercholesterolaemia. It has been shown recently that aprataxin gene mutations are also associated with muscle coenzyme Q10 (CoQ10) deficiency and that patients with aprataxin mutations and muscle coenzyme Q10 deficiency improved clinically after coenzyme Q10 supplementation. Recent studies suggested a correlation of the nature of the mutation and the levels of muscle coenzyme Q1…