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dc.contributor.authorHikmat, Omaren_US
dc.contributor.authorTzoulis, Charalamposen_US
dc.contributor.authorKnappskog, Peren_US
dc.contributor.authorJohansson, Stefanen_US
dc.contributor.authorBoman, Helgeen_US
dc.contributor.authorSztromwasser, Pawel Szymonen_US
dc.contributor.authorLien, Espenen_US
dc.contributor.authorBrodtkorb, Eylerten_US
dc.contributor.authorGhezzi, Danieleen_US
dc.contributor.authorBindoff, Laurenceen_US
dc.date.accessioned2017-12-20T12:53:52Z
dc.date.available2017-12-20T12:53:52Z
dc.date.issued2016-07
dc.PublishedHikmat OSM, Tzoulis C, Knappskog PM, Johansson S, Boman H, Sztromwasser P, Lien E, Brodtkorb E, Ghezzi, Bindoff L. ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?. European Journal of Neurology. 2016;23(7):1188-1194eng
dc.identifier.issn1351-5101
dc.identifier.issn1468-1331
dc.identifier.urihttps://hdl.handle.net/1956/17059
dc.description.abstractBackground and purpose: Defects of coenzyme Q10 (CoQ10) metabolism cause a variety of disorders ranging from isolated myopathy to multisystem involvement. ADCK3 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. Methods: A detailed description of three new patients and one previously reported patient from three Norwegian families with novel and known ADCK3 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. Results: All four patients presented with childhood-onset epilepsy and progressive cerebellar ataxia. Three patients had epilepsia partialis continua and stroke-like episodes affecting the posterior brain. Electroencephalography showed focal epileptic activity in the occipital and temporal lobes. Genetic investigation revealed ADCK3 mutations in all patients including a novel change in exon 15: c.T1732G, p.F578V. There was no apparent genotype−phenotype correlation. Conclusion: ADCK3 mutations can cause a combination of progressive ataxia and acute epileptic encephalopathy with stroke-like episodes. The clinical, radiological and electrophysiological features of this disorder mimic the phenotype of polymerase gamma (POLG) related encephalopathy and it is therefore suggested that ADCK3 mutations be considered in the differential diagnosis of mitochondrial encephalopathy with POLG-like features.en_US
dc.language.isoengeng
dc.publisherWileyeng
dc.subjectADCK3eng
dc.subjectataxiaeng
dc.subjectCABC1eng
dc.subjectcoenzyme Q10eng
dc.subjectepilepsiapartialis continuaeng
dc.subjectmitochondriaeng
dc.subjectPOLGeng
dc.subjectstroke-like episodeseng
dc.titleADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?en_US
dc.typePeer reviewed
dc.typeJournal article
dc.date.updated2017-12-11T12:36:15Z
dc.description.versionacceptedVersionen_US
dc.rights.holderCopyright 2016 EAN
dc.identifier.doihttps://doi.org/10.1111/ene.13003
dc.identifier.cristin1368296
dc.source.journalEuropean Journal of Neurology
dc.relation.projectNorges forskningsråd: 240369


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