Features of brain electrical activity in adult patients with POLG-related disorders
Introduction. Epilepsy is a common feature of mitochondrial disorders, including those associated with mutations in the POLG gene. Nevertheless, brain electrical activity features of POLG-related disorders in adult patients have not been adequately studied. Objective. To study the features and chara...
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| Format: | Article |
| Language: | Russian |
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IRBIS LLC
2021-02-01
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| Series: | Эпилепсия и пароксизмальные состояния |
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| Online Access: | https://www.epilepsia.su/jour/article/view/622 |
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| author | P. A. Fedin E. P. Nuzhnyi T. Yu. Noskova Yu. A. Seliverstov S. A. Klyushnikov T. D. Krylova P. G. Tsygankova E. Yu. Zakharova S. N. Illarioshkin |
| author_facet | P. A. Fedin E. P. Nuzhnyi T. Yu. Noskova Yu. A. Seliverstov S. A. Klyushnikov T. D. Krylova P. G. Tsygankova E. Yu. Zakharova S. N. Illarioshkin |
| author_sort | P. A. Fedin |
| collection | DOAJ |
| description | Introduction. Epilepsy is a common feature of mitochondrial disorders, including those associated with mutations in the POLG gene. Nevertheless, brain electrical activity features of POLG-related disorders in adult patients have not been adequately studied. Objective. To study the features and characteristics of the electroencephalography (EEG) pattern in adult patients with POLG-related disorders. Material and methods. Eight patients were examined: 7 with SANDO (Sensory Ataxic Neuropathy, Dysarthria, Ophthalmoparesis) syndrome, and 1 with MEMSA (Myoclonic Epilepsy Myopathy Sensory Ataxia) syndrome; median age was 32.5 years. All patients underwent routine EEG monitoring using a 19-channel electroencephalograph according to the generally accepted method. Results. Epileptic seizures were found in 3 patients, for 2 of them – as the first manifestation of the disease. In 6 patients, theta waves predominated in the occipital regions. Of those 6 patients, in 5 bilateral synchronous bursts of theta and delta wave groups were identified being more prominent in the frontocentral regions; 4 patients had transient non-lateralized delta activity in the occipital and parieto-occipital brain regions. In all patients, opening eyes led to the depression of rhythms and burst suppression. After photostimulation, in 2 cases bilateral synchronous bursts of delta and theta wave groups were recorded predominantly in frontal lobes. In 3 patients during hyperventilation an increase in delta activity in the occipital lobes and bilateral synchronous bursts of delta wave groups were observed. Epileptiform activity was recorded in 2 cases. Conclusion. In adult patients with POLG-related disorders, regardless of the clinical manifestation, typical EEG features include generalized background slowing, theta and delta bursts in occipital lobes with their suppression by opening eyes. |
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| id | doaj.art-4301f83c628f4f6d94de784af98ba08f |
| institution | Directory Open Access Journal |
| issn | 2077-8333 2311-4088 |
| language | Russian |
| last_indexed | 2025-03-14T11:13:49Z |
| publishDate | 2021-02-01 |
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| series | Эпилепсия и пароксизмальные состояния |
| spelling | doaj.art-4301f83c628f4f6d94de784af98ba08f2025-03-02T10:17:06ZrusIRBIS LLCЭпилепсия и пароксизмальные состояния2077-83332311-40882021-02-0112420521510.17749/2077-8333/epi.par.con.2020.041503Features of brain electrical activity in adult patients with POLG-related disordersP. A. Fedin0E. P. Nuzhnyi1T. Yu. Noskova2Yu. A. Seliverstov3S. A. Klyushnikov4T. D. Krylova5P. G. Tsygankova6E. Yu. Zakharova7S. N. Illarioshkin8Research Center of NeurologyResearch Center of NeurologyResearch Center of NeurologyResearch Center of NeurologyResearch Center of NeurologyBochkov Research Centre for Medical GeneticsBochkov Research Centre for Medical GeneticsBochkov Research Centre for Medical GeneticsResearch Center of NeurologyIntroduction. Epilepsy is a common feature of mitochondrial disorders, including those associated with mutations in the POLG gene. Nevertheless, brain electrical activity features of POLG-related disorders in adult patients have not been adequately studied. Objective. To study the features and characteristics of the electroencephalography (EEG) pattern in adult patients with POLG-related disorders. Material and methods. Eight patients were examined: 7 with SANDO (Sensory Ataxic Neuropathy, Dysarthria, Ophthalmoparesis) syndrome, and 1 with MEMSA (Myoclonic Epilepsy Myopathy Sensory Ataxia) syndrome; median age was 32.5 years. All patients underwent routine EEG monitoring using a 19-channel electroencephalograph according to the generally accepted method. Results. Epileptic seizures were found in 3 patients, for 2 of them – as the first manifestation of the disease. In 6 patients, theta waves predominated in the occipital regions. Of those 6 patients, in 5 bilateral synchronous bursts of theta and delta wave groups were identified being more prominent in the frontocentral regions; 4 patients had transient non-lateralized delta activity in the occipital and parieto-occipital brain regions. In all patients, opening eyes led to the depression of rhythms and burst suppression. After photostimulation, in 2 cases bilateral synchronous bursts of delta and theta wave groups were recorded predominantly in frontal lobes. In 3 patients during hyperventilation an increase in delta activity in the occipital lobes and bilateral synchronous bursts of delta wave groups were observed. Epileptiform activity was recorded in 2 cases. Conclusion. In adult patients with POLG-related disorders, regardless of the clinical manifestation, typical EEG features include generalized background slowing, theta and delta bursts in occipital lobes with their suppression by opening eyes.https://www.epilepsia.su/jour/article/view/622mitochondrial disorderspolg genesando syndromememsa syndromeelectroencephalographyepilepsy |
| spellingShingle | P. A. Fedin E. P. Nuzhnyi T. Yu. Noskova Yu. A. Seliverstov S. A. Klyushnikov T. D. Krylova P. G. Tsygankova E. Yu. Zakharova S. N. Illarioshkin Features of brain electrical activity in adult patients with POLG-related disorders Эпилепсия и пароксизмальные состояния mitochondrial disorders polg gene sando syndrome memsa syndrome electroencephalography epilepsy |
| title | Features of brain electrical activity in adult patients with POLG-related disorders |
| title_full | Features of brain electrical activity in adult patients with POLG-related disorders |
| title_fullStr | Features of brain electrical activity in adult patients with POLG-related disorders |
| title_full_unstemmed | Features of brain electrical activity in adult patients with POLG-related disorders |
| title_short | Features of brain electrical activity in adult patients with POLG-related disorders |
| title_sort | features of brain electrical activity in adult patients with polg related disorders |
| topic | mitochondrial disorders polg gene sando syndrome memsa syndrome electroencephalography epilepsy |
| url | https://www.epilepsia.su/jour/article/view/622 |
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