{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T19:02:51Z","timestamp":1793473371324,"version":"4.5.0"},"reference-count":28,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2016,4,23]],"date-time":"2016-04-23T00:00:00Z","timestamp":1461369600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2016,7]]},"abstract":"<jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Defects of coenzyme Q10 (CoQ10) metabolism cause a variety of disorders ranging from isolated myopathy to multisystem involvement. <jats:italic><jats:styled-content style=\"fixed-case\">ADCK<\/jats:styled-content>3<\/jats:italic> is one of several genes associated with CoQ10 deficiency that presents with progressive cerebellar ataxia, epilepsy, migraine and psychiatric disorders. Diagnosis is challenging due to the wide clinical spectrum and overlap with other mitochondrial disorders.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A detailed description of three new patients and one previously reported patient from three Norwegian families with novel and known <jats:italic><jats:styled-content style=\"fixed-case\">ADCK<\/jats:styled-content>3<\/jats:italic> mutations is provided focusing on the epileptic semiology and response to treatment. Mutations were identified by whole exome sequencing and in two measurement of skeletal muscle CoQ10 was performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All four patients presented with childhood\u2010onset epilepsy and progressive cerebellar ataxia. Three patients had epilepsia partialis continua and stroke\u2010like episodes affecting the posterior brain. Electroencephalography showed focal epileptic activity in the occipital and temporal lobes. Genetic investigation revealed <jats:italic><jats:styled-content style=\"fixed-case\">ADCK<\/jats:styled-content>3<\/jats:italic> mutations in all patients including a novel change in exon 15: c.T1732G, p.F578V. There was no apparent genotype\u2212phenotype correlation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p><jats:italic><jats:styled-content style=\"fixed-case\">ADCK<\/jats:styled-content>3<\/jats:italic> mutations can cause a combination of progressive ataxia and acute epileptic encephalopathy with stroke\u2010like episodes. The clinical, radiological and electrophysiological features of this disorder mimic the phenotype of polymerase gamma (<jats:styled-content style=\"fixed-case\">POLG<\/jats:styled-content>) related encephalopathy and it is therefore suggested that <jats:italic><jats:styled-content style=\"fixed-case\">ADCK<\/jats:styled-content>3<\/jats:italic> mutations be considered in the differential diagnosis of mitochondrial encephalopathy with <jats:styled-content style=\"fixed-case\">POLG<\/jats:styled-content>\u2010like features.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.13003","type":"journal-article","created":{"date-parts":[[2016,4,23]],"date-time":"2016-04-23T09:04:07Z","timestamp":1461402247000},"page":"1188-1194","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":52,"title":["<i><scp>ADCK<\/scp>3<\/i> mutations with epilepsy, stroke\u2010like episodes and ataxia: a <scp>POLG<\/scp> mimic?"],"prefix":"10.1111","volume":"23","author":[{"given":"O.","family":"Hikmat","sequence":"first","affiliation":[{"name":"Department of Paediatrics Haukeland University Hospital Bergen Norway"},{"name":"Department of Clinical Medicine (K1) University of Bergen Bergen Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Tzoulis","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine (K1) University of Bergen Bergen Norway"},{"name":"Department of Neurology Haukeland University Hospital Bergen Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. M.","family":"Knappskog","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine (K1) University of Bergen Bergen Norway"},{"name":"Centre for Medical Genetics and Molecular Medicine Haukeland University Hospital Bergen Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Johansson","sequence":"additional","affiliation":[{"name":"Centre for Medical Genetics and Molecular Medicine Haukeland University Hospital Bergen Norway"},{"name":"Department of Biomedicine University of Bergen Bergen Norway"},{"name":"K.G. Jebsen Centre for Research on Neuropsychiatric Disorders University of Bergen Bergen Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Boman","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine (K1) University of Bergen Bergen Norway"},{"name":"Centre for Medical Genetics and Molecular Medicine Haukeland University Hospital Bergen Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Sztromwasser","sequence":"additional","affiliation":[{"name":"Centre for Medical Genetics and Molecular Medicine Haukeland University Hospital Bergen Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Lien","sequence":"additional","affiliation":[{"name":"Department of Paediatrics St Olav's University Hospital Trondheim Trondheim Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Brodtkorb","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Norwegian University of Science and Technology Trondheim Norway"},{"name":"Department of Neurology and Clinical Neurophysiology St Olav's University Hospital Trondheim Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Ghezzi","sequence":"additional","affiliation":[{"name":"Unit of Molecular Neurogenetics Foundation IRCCS Neurological Institute \u2018Carlo Besta\u2019 Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. 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