Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency.

Coenzyme Q(10) (CoQ) deficiency is an autosomal recessive disorder presenting five phenotypes: a myopathic form, a severe infantile neurological syndrome associated with nephritic syndrome, an ataxic variant, Leigh syndrome and a pure myopathic form. The third is the most common phenotype related with CoQ deficiency and it will be the focus of this review. This new syndrome presents muscle CoQ deficiency associated with cerebellar ataxia and cerebellar atrophy as the main neurological signs.

Monitoring of idebenone treatment in patients with Friedreich's ataxia by high-pressure liquid chromatography with electrochemical detection.

Idebenone is a quinone analog that is applied in the treatment of several neurological disorders including Friedreich ataxia and mitochondrial encephalomyopathies. Our aim was to develop an easy and sensitive analytical HPLC-procedure for the determination of idebenone in the serum of patients treated with this drug. Serum samples from nine paediatric patients diagnosed with Friedreich ataxia and receiving idebenone treatment were analyzed.