Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2022 Oct 8;12(10):955.
doi: 10.3390/metabo12100955.

COQ8A-Ataxia as a Manifestation of Primary Coenzyme Q Deficiency

Justyna Paprocka  1 , Magdalena Nowak  2 , Piotr Chuchra  2 , Robert Śmigiel  3
Affiliations
Review

COQ8A-Ataxia as a Manifestation of Primary Coenzyme Q Deficiency

Justyna Paprocka et al. Metabolites. .

Abstract

COQ8A-ataxia is a mitochondrial disease in which a defect in coenzyme Q10 synthesis leads to dysfunction of the respiratory chain. The disease is usually present as childhood-onset progressive ataxia with developmental regression and cerebellar atrophy. However, due to variable phenotype, it may be hard to distinguish from other mitochondrial diseases and a wide spectrum of childhood-onset cerebellar ataxia. COQ8A-ataxia is a potentially treatable condition with the supplementation of coenzyme Q10 as a main therapy; however, even 50% may not respond to the treatment. In this study we review the clinical manifestation and management of COQ8A-ataxia, focusing on current knowledge of coenzyme Q10 supplementation and approach to further therapies. Moreover, the case of a 22-month-old girl with cerebellar ataxia and developmental regression will be presented.

Keywords: COQ8A; COQ8A-ataxia; cerebellar ataxia; coenzyme Q10; primary coenzyme Q10 deficiency; primary coenzyme Q10 deficiency-4.

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Role of CoQ10 in the mitochondrial electron transport chain. CoQ10—lipid-soluble component of the mitochondrial inner membrane, which acts as an electron acceptor at the level of the mitochondrial respiratory chain. CoQ10 carries electrons from complex I and complex II to complex III, contributing to ATP production. ADP: Adenosine diphosphate; CoQ10: Coenzyme Q10;Cyt C: Cytochrome C; e−: electron; FAD: flavin adenine dinucleotide; FADH: reduced flavin adenine dinucleotide; H+: proton; Pi: inorganic phosphate.
See this image and copyright information in PMC

References

    1. Musselman K.E., Stoyanov C.T., Marasigan R., Jenkins M.E., Konczak J., Morton S.M., Bastian A.J. Prevalence of Ataxia in Children: A Systematic Review. Neurology. 2014;82:80–89. doi: 10.1212/01.wnl.0000438224.25600.6c. - DOI - PMC - PubMed
    1. Traschütz A., Schirinzi T., Laugwitz L., Murray N.H., Bingman C.A., Reich S., Kern J., Heinzmann A., Vasco G., Bertini E., et al. Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients. Ann. Neurol. 2020;88:251–263. doi: 10.1002/ana.25751. - DOI - PMC - PubMed
    1. Laredj L.N., Licitra F., Puccio H.M. The Molecular Genetics of Coenzyme Q Biosynthesis in Health and Disease. Biochimie. 2014;100:78–87. doi: 10.1016/j.biochi.2013.12.006. - DOI - PubMed
    1. Emmanuele V., López L.C., López L., Berardo A., Naini A., Tadesse S., Wen B., D’Agostino E., Solomon M., DiMauro S., et al. Heterogeneity of Coenzyme Q10 Deficiency: Patient Study and Literature Review. Arch. Neurol. 2012;69:978–983. doi: 10.1001/archneurol.2012.206. - DOI - PMC - PubMed
    1. Mollet J., Delahodde A., Serre V., Chretien D., Schlemmer D., Lombes A., Boddaert N., Desguerre I., de Lonlay P., Ogier de Baulny H., et al. CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures. Am. J. Hum. Genet. 2008;82:623–630. doi: 10.1016/j.ajhg.2007.12.022. - DOI - PMC - PubMed

LinkOut - more resources