ADCK3‐related Coenzyme Q10 Deficiency: A Potentially Treatable Genetic Disease. Issue 6 (9th October 2018)

• Record Type: Journal Article
• Authors: Chang, Anna; Ruiz‐Lopez, Marta; Slow, Elizabeth; Tarnopolsky, Mark; Lang, Anthony E.; Munhoz, Renato P
• Is Part Of: Movement disorders clinical practice. Volume 5:Issue 6(2018)
• Page Start: 635
• Page End: 639
• Publication Date: 2018-10-09
• Subjects: autosomal recessive cerebellar ataxia -- coenzyme Q10 deficiency -- kinase 3 gene mutation; Movement Disorders; Movement disorders -- Periodicals; Movement disorders; Periodicals; Periodicals; 616
• DOI: 10.1002/mdc3.12667
• Languages: English
• ISSNs: 2330-1619

Abstract

Abstract: Background: Disorders related to dysfunction of coenzyme (CoQ10 ) metabolism, including AarF domain containing kinase 3 gene (ADCK3) mutations, have received attention due to the potential for response to CoQ10 supplementation. Methods: We describe two new cases of neurological syndromes due to ADCK3 mutations that obtained striking benefit from CoQ10, and a third who did not. We also review 20 cases from the literature in which responses to CoQ10 were documented out of all 38 previously reported cases. Results: Despite the remarkable responses in some cases with ataxia and movement disorders (myoclonus, dystonia, tremor), overall, we were not able to identify variables that predicted response to CoQ10 supplementation. Conclusions: Based on our experience and data from the literature, we recommend a minimum of 10 mg/kg/day of ubiquinone with titration up to 15 mg/kg/day, maintained at least for 6 months in order to obtain or exclude potential benefit from therapy. Abstract : View Supplementary Video 1 View Supplementary Video 2