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Review

Primary Coenzyme Q10 Deficiency-Related Ataxias

by
Piervito Lopriore
1,2,
Marco Vista
1,
Alessandra Tessa
3,
Martina Giuntini
1,
Elena Caldarazzo Ienco
1,
Michelangelo Mancuso
2,
Gabriele Siciliano
2,
Filippo Maria Santorelli
3 and
Daniele Orsucci
1,*
1
Unit of Neurology, San Luca Hospital, Via Lippi-Francesconi, 55100 Lucca, Italy
2
Neurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy
3
Molecular Medicine, IRCCS Stella Maris Foundation, 56122 Pisa, Italy
*
Author to whom correspondence should be addressed.
J. Clin. Med. 2024, 13(8), 2391; https://doi.org/10.3390/jcm13082391
Submission received: 13 March 2024 / Revised: 17 April 2024 / Accepted: 18 April 2024 / Published: 19 April 2024
(This article belongs to the Section Clinical Neurology)
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Abstract

Cerebellar ataxia is a neurological syndrome characterized by the imbalance (e.g., truncal ataxia, gait ataxia) and incoordination of limbs while executing a task (dysmetria), caused by the dysfunction of the cerebellum or its connections. It is frequently associated with other signs of cerebellar dysfunction, including abnormal eye movements, dysmetria, kinetic tremor, dysarthria, and/or dysphagia. Among the so-termed mitochondrial ataxias, variants in genes encoding steps of the coenzyme Q10 biosynthetic pathway represent a common cause of autosomal recessive primary coenzyme Q10 deficiencies (PCoQD)s. PCoQD is a potentially treatable condition; therefore, a correct and timely diagnosis is essential. After a brief presentation of the illustrative case of an Italian woman with this condition (due to a novel homozygous nonsense mutation in COQ8A), this article will review ataxias due to PCoQD.
Keywords: ataxia; cerebellum; coenzyme Q10; mitochondrial diseases; primary coenzyme Q10 deficiencies ataxia; cerebellum; coenzyme Q10; mitochondrial diseases; primary coenzyme Q10 deficiencies

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MDPI and ACS Style

Lopriore, P.; Vista, M.; Tessa, A.; Giuntini, M.; Caldarazzo Ienco, E.; Mancuso, M.; Siciliano, G.; Santorelli, F.M.; Orsucci, D. Primary Coenzyme Q10 Deficiency-Related Ataxias. J. Clin. Med. 2024, 13, 2391. https://doi.org/10.3390/jcm13082391

AMA Style

Lopriore P, Vista M, Tessa A, Giuntini M, Caldarazzo Ienco E, Mancuso M, Siciliano G, Santorelli FM, Orsucci D. Primary Coenzyme Q10 Deficiency-Related Ataxias. Journal of Clinical Medicine. 2024; 13(8):2391. https://doi.org/10.3390/jcm13082391

Chicago/Turabian Style

Lopriore, Piervito, Marco Vista, Alessandra Tessa, Martina Giuntini, Elena Caldarazzo Ienco, Michelangelo Mancuso, Gabriele Siciliano, Filippo Maria Santorelli, and Daniele Orsucci. 2024. "Primary Coenzyme Q10 Deficiency-Related Ataxias" Journal of Clinical Medicine 13, no. 8: 2391. https://doi.org/10.3390/jcm13082391

APA Style

Lopriore, P., Vista, M., Tessa, A., Giuntini, M., Caldarazzo Ienco, E., Mancuso, M., Siciliano, G., Santorelli, F. M., & Orsucci, D. (2024). Primary Coenzyme Q10 Deficiency-Related Ataxias. Journal of Clinical Medicine, 13(8), 2391. https://doi.org/10.3390/jcm13082391

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