ADCK3 mutations with epilepsy, stroke‐like episodes and ataxia: a POLG mimic?

• DOI: 10.1111/ene.13003
• Publication Date: 2016-04-23T09:04:07Z
• Authors: O. Hikmat; C. Tzoulis; P. M. Knappskog; S. Johansson; H. Boman; P. Sztromwasser; E. Lien; E. Brodtkorb; D. Ghezzi; L. A. Bindoff
• Keywords: Epilepsia partialis continua; Cerebellar ataxia; Stroke

Background and purpose Defects of coenzyme Q10 (CoQ10) metabolism cause a variety disorders ranging from isolated myopathy to multisystem involvement. ADCK 3 is one several genes associated with CoQ10 deficiency that presents progressive cerebellar ataxia, epilepsy, migraine psychiatric disorders. Diagnosis challenging due the wide clinical spectrum overlap other mitochondrial Methods A detailed description three new patients previously reported patient Norwegian families novel known mutations provided focusing on epileptic semiology response treatment. Mutations were identified by whole exome sequencing in two measurement skeletal muscle was performed. Results All four presented childhood‐onset epilepsy ataxia. Three had epilepsia partialis continua stroke‐like episodes affecting posterior brain. Electroencephalography showed focal activity occipital temporal lobes. Genetic investigation revealed all including change exon 15: c.T1732G, p.F578V. There no apparent genotype−phenotype correlation. Conclusion can combination ataxia acute encephalopathy episodes. The clinical, radiological electrophysiological features this disorder mimic phenotype polymerase gamma ( POLG ) related it therefore suggested be considered differential diagnosis ‐like features.