{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:39:14Z","timestamp":1791329954213,"version":"4.3.1"},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,2,16]],"date-time":"2016-02-16T00:00:00Z","timestamp":1455580800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,8]]},"abstract":"Inherited ataxias are a group of heterogeneous disorders in children or adults but their genetic definition remains still undetermined in almost half of the patients. However, CoQ10<\/jats:sub><\/jats:styled-content> deficiency is a rare cause of cerebellar ataxia and ADCK3<\/jats:styled-content><\/jats:italic> is the most frequent gene associated with this defect. We herein report a 48 year old man, who presented with dysarthria and walking difficulties. Brain magnetic resonance imaging showed a marked cerebellar atrophy. Serum lactate was elevated. Tissues obtained by muscle and skin biopsies were studied for biochemical and genetic characterization. Skeletal muscle biochemistry revealed decreased activities of complexes I+III<\/jats:styled-content> and II<\/jats:styled-content>+III<\/jats:styled-content> and a severe reduction of CoQ10<\/jats:sub><\/jats:styled-content>, while skin fibroblasts showed normal CoQ10<\/jats:sub><\/jats:styled-content> levels. A mild loss of maximal respiration capacity was also found by high\u2010resolution respirometry. Molecular studies identified a novel homozygous deletion (c.504del_CT<\/jats:styled-content>) in ADCK3<\/jats:styled-content><\/jats:italic>, causing a premature stop codon. Western blot analysis revealed marked reduction of ADCK3<\/jats:styled-content><\/jats:italic> protein levels. Treatment with CoQ10<\/jats:sub><\/jats:styled-content> was started and, after 1\u2009year follow\u2010up, patient neurological condition slightly improved. This report suggests the importance of investigating mitochondrial function and, in particular, muscle CoQ10<\/jats:sub><\/jats:styled-content> levels, in patients with adult\u2010onset cerebellar ataxia. Moreover, clinical stabilization by CoQ10<\/jats:sub><\/jats:styled-content> supplementation emphasizes the importance of an early diagnosis.<\/jats:p>","DOI":"10.1111\/cge.12742","type":"journal-article","created":{"date-parts":[[2016,1,28]],"date-time":"2016-01-28T02:58:44Z","timestamp":1453949924000},"page":"156-160","source":"Crossref","is-referenced-by-count":43,"title":["Cerebellar ataxia and severe muscle CoQ10<\/sub><\/scp> deficiency in a patient with a novel mutation in ADCK3<\/scp><\/i>"],"prefix":"10.1111","volume":"90","author":[{"given":"E.","family":"Barca","sequence":"first","affiliation":[{"name":"Department of Neurology Columbia University Medical Center New York NY USA"},{"name":"Department of Clinical and Experimental Medicine University of Messina Messina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O.","family":"Musumeci","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine University of Messina Messina Italy"},{"name":"IRCCS Centro Neurolesi \u201cBonino Pulejo\u201d Messina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Montagnese","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine University of Messina Messina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Marino","sequence":"additional","affiliation":[{"name":"IRCCS Centro Neurolesi \u201cBonino Pulejo\u201d Messina Italy"},{"name":"Department of Biomedical Sciences and Morphological and Functional Imaging University of Messina Messina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Granata","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences and Morphological and Functional Imaging University of Messina Messina 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