Abstract | BACKGROUND AND PURPOSE: 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.
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Authors | O Hikmat, C Tzoulis, P M Knappskog, S Johansson, H Boman, P Sztromwasser, E Lien, E Brodtkorb, D Ghezzi, L A Bindoff |
Journal | European journal of neurology
(Eur J Neurol)
Vol. 23
Issue 7
Pg. 1188-94
(07 2016)
ISSN: 1468-1331 [Electronic] England |
PMID | 27106809
(Publication Type: Journal Article)
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Copyright | © 2016 EAN. |
Chemical References |
- COQ8A protein, human
- Mitochondrial Proteins
- Ubiquinone
- Ubiquinone Q2
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Topics |
- Adult
- Ataxia
(diagnosis, genetics)
- Cerebellar Ataxia
(diagnosis, genetics)
- Diagnosis, Differential
- Epilepsy
(diagnosis, genetics)
- Female
- Humans
- Male
- Mitochondrial Diseases
(diagnosis, genetics)
- Mitochondrial Encephalomyopathies
(diagnosis)
- Mitochondrial Proteins
(genetics)
- Muscle Weakness
(diagnosis, genetics)
- Mutation
- Phenotype
- Ubiquinone
(deficiency, genetics)
- Young Adult
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