Coenzyme Q10 Deficiency and Cerebellar Ataxia - Abstract
Coenzyme Q10 (CoQ10) deficiency is an autosomal recessive disorder presenting five main phenotypes: an enchephalomyopathic form, a severe infantile neurological syndrome, a nephrotic form, a pure myopathic form and an ataxic form. The last one, the focus of this review, is the most common phenotype, characterized by childhood/young adulthood-onset cerebellar ataxia and cerebellar atrophy as main neurological signs, and decreased CoQ10 levels in muscle (the hallmark of the disease), and sometimes in fibroblasts. Molecular defects have been described in two different genes: APTX and ADCK3. Early diagnosis is important because patients can benefit from CoQ10 supplementation.