Category: Neuroimaging (Non-PD)
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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To cite this abstract in AMA style:
J. Prasuhn, M. Göttlich, B. Ebeling, C. Bodemann, S. Großer, I. Wellach, K. Reuther, H. Hanssen, N. Brüggemann. Cerebellar bioenergetic depletion following ubiquinol supplementation in a patient with COQ8A-related ataxia [abstract]. Mov Disord. 2021; 36 (suppl 1). https://www.mdsabstracts.org/abstract/cerebellar-bioenergetic-depletion-following-ubiquinol-supplementation-in-a-patient-with-coq8a-related-ataxia/. Accessed December 11, 2024.« Back to MDS Virtual Congress 2021
MDS Abstracts - https://www.mdsabstracts.org/abstract/cerebellar-bioenergetic-depletion-following-ubiquinol-supplementation-in-a-patient-with-coq8a-related-ataxia/