Coenzyme Q10 deficiency; A treatable autosomal recessive cerebellar ataxias

Abstract

Objective: Coenzyme Q10 deficiency syndromes consist of a growing number of neurological and extraneurological disorders. Our aim is to report a new case with cerebellar ataxia, hepatosteatosis and elevated liver enzymes associated with coenzyme Q10 deficiency, the biochemical findings caused by this deficiency and the response to CoQ supplementation. Results: A 13-year old girl presented with tremor in hands and dysarthric speech. The laboratory tests were unremarkable except elevated liver enzymes. Cranial magnetic imaging revealed mild cerebellar atrophy homozygous pathogenic variant in ADCK3 (p.Ala338Val) gene was identified by whole-exome sequencing. She gained substantial improvement intremor, ataxic gait and dysarthric speech after treatment with CoQ. Conclusion: This study highlights the importance of early diagnosing of ADCK3gene pathogenic variantsand the potential benefit of treatment. The identification of this new pathogenic variant broadens the phenotypic spectrum associated with ADCK3gene and provides further understanding of its pathogenic mechanism