Objective: To non-invasively map the individual treatment response in a patient with COQ8A-related ataxia following coenzyme Q10 supplementation.

Background: Primary coenzyme Q10 (CoQ10) deficiency is a rare autosomal recessive disorder associated with various protein defects of CoQ10 biosynthesis. COQ8A is a mitochondrial protein located in the electron transport chain and part of an electron-transferring membrane protein complex. Compensation of CoQ10 deficiency in COQ8A-related disorders by supplementation of oral CoQ10 has been described as beneficial only for individual patients, whereas most patients show no or only negligible treatment responses. In a recent multi-center study, no predictors of positive treatment response were seen for clinical characteristics, cumulative daily CoQ10 dose, mutation type, selected conventional neuroimaging, nor laboratory investigations.

Method: Metabolic (³¹Phosphorus Magnetic Resonance Spectroscopy Imaging) and volumetric cerebellar neuroimaging were applied to quantify the individual treatment response in a patient with COQ8A-related ataxia. Neuroimaging findings were compared to nine, age- and gender-matched healthy control subjects.

Results: The patient encountered no symptomatic relief following high dosage coenzyme Q10 supplementation for six weeks. ³¹P MRSI revealed unremarkable bioenergetic levels pre-, and a marked decrease in high-energy phosphorus-containing metabolites post-treatment.

Conclusion: This study illustrates the potential of pathophysiology-oriented neuroimaging approaches for gathering further information to drive treatment decisions where only limited evidence is available.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/cerebellar-bioenergetic-depletion-following-ubiquinol-supplementation-in-a-patient-with-coq8a-related-ataxia/