{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T16:11:42Z","timestamp":1781712702920,"version":"3.54.5"},"reference-count":50,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2024,4,19]],"date-time":"2024-04-19T00:00:00Z","timestamp":1713484800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Italian Ministry of Health","award":["RF-2019-12370417"],"award-info":[{"award-number":["RF-2019-12370417"]}]},{"name":"Italian Ministry of Health","award":["GSP16001"],"award-info":[{"award-number":["GSP16001"]}]},{"name":"Italian Ministry of Health","award":["02361495"],"award-info":[{"award-number":["02361495"]}]},{"name":"Italian Ministry of Health","award":["EJPRD2019"],"award-info":[{"award-number":["EJPRD2019"]}]},{"name":"Italian Ministry of Health","award":["2022B9WY4A"],"award-info":[{"award-number":["2022B9WY4A"]}]},{"name":"Telethon-MITOCON","award":["RF-2019-12370417"],"award-info":[{"award-number":["RF-2019-12370417"]}]},{"name":"Telethon-MITOCON","award":["GSP16001"],"award-info":[{"award-number":["GSP16001"]}]},{"name":"Telethon-MITOCON","award":["02361495"],"award-info":[{"award-number":["02361495"]}]},{"name":"Telethon-MITOCON","award":["EJPRD2019"],"award-info":[{"award-number":["EJPRD2019"]}]},{"name":"Telethon-MITOCON","award":["2022B9WY4A"],"award-info":[{"award-number":["2022B9WY4A"]}]},{"name":"Ricerca finalizzata 2016","award":["RF-2019-12370417"],"award-info":[{"award-number":["RF-2019-12370417"]}]},{"name":"Ricerca finalizzata 2016","award":["GSP16001"],"award-info":[{"award-number":["GSP16001"]}]},{"name":"Ricerca finalizzata 2016","award":["02361495"],"award-info":[{"award-number":["02361495"]}]},{"name":"Ricerca finalizzata 2016","award":["EJPRD2019"],"award-info":[{"award-number":["EJPRD2019"]}]},{"name":"Ricerca finalizzata 2016","award":["2022B9WY4A"],"award-info":[{"award-number":["2022B9WY4A"]}]},{"name":"European Joint Program on Rare Diseases","award":["RF-2019-12370417"],"award-info":[{"award-number":["RF-2019-12370417"]}]},{"name":"European Joint Program on Rare Diseases","award":["GSP16001"],"award-info":[{"award-number":["GSP16001"]}]},{"name":"European Joint Program on Rare Diseases","award":["02361495"],"award-info":[{"award-number":["02361495"]}]},{"name":"European Joint Program on Rare Diseases","award":["EJPRD2019"],"award-info":[{"award-number":["EJPRD2019"]}]},{"name":"European Joint Program on Rare Diseases","award":["2022B9WY4A"],"award-info":[{"award-number":["2022B9WY4A"]}]},{"name":"Italian Ministry of University and Research","award":["RF-2019-12370417"],"award-info":[{"award-number":["RF-2019-12370417"]}]},{"name":"Italian Ministry of University and Research","award":["GSP16001"],"award-info":[{"award-number":["GSP16001"]}]},{"name":"Italian Ministry of University and Research","award":["02361495"],"award-info":[{"award-number":["02361495"]}]},{"name":"Italian Ministry of University and Research","award":["EJPRD2019"],"award-info":[{"award-number":["EJPRD2019"]}]},{"name":"Italian Ministry of University and Research","award":["2022B9WY4A"],"award-info":[{"award-number":["2022B9WY4A"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.3390\/jcm13082391","type":"journal-article","created":{"date-parts":[[2024,4,19]],"date-time":"2024-04-19T10:53:17Z","timestamp":1713523997000},"page":"2391","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Primary Coenzyme Q10 Deficiency-Related Ataxias"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9789-3129","authenticated-orcid":false,"given":"Piervito","family":"Lopriore","sequence":"first","affiliation":[{"name":"Unit of Neurology, San Luca Hospital, Via Lippi-Francesconi, 55100 Lucca, Italy"},{"name":"Neurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Vista","sequence":"additional","affiliation":[{"name":"Unit of Neurology, San Luca Hospital, Via Lippi-Francesconi, 55100 Lucca, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Tessa","sequence":"additional","affiliation":[{"name":"Molecular Medicine, IRCCS Stella Maris Foundation, 56122 Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Giuntini","sequence":"additional","affiliation":[{"name":"Unit of Neurology, San Luca Hospital, Via Lippi-Francesconi, 55100 Lucca, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Caldarazzo Ienco","sequence":"additional","affiliation":[{"name":"Unit of Neurology, San Luca Hospital, Via Lippi-Francesconi, 55100 Lucca, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2738-8562","authenticated-orcid":false,"given":"Michelangelo","family":"Mancuso","sequence":"additional","affiliation":[{"name":"Neurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6142-2384","authenticated-orcid":false,"given":"Gabriele","family":"Siciliano","sequence":"additional","affiliation":[{"name":"Neurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo Maria","family":"Santorelli","sequence":"additional","affiliation":[{"name":"Molecular Medicine, IRCCS Stella Maris Foundation, 56122 Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4847-7812","authenticated-orcid":false,"given":"Daniele","family":"Orsucci","sequence":"additional","affiliation":[{"name":"Unit of Neurology, San Luca Hospital, Via Lippi-Francesconi, 55100 Lucca, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,4,19]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Orsucci, D., Caldarazzo Ienco, E., Rossi, A., Siciliano, G., and Mancuso, M. 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