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Войти в исследования Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology · 2025
Progressive encephalopathy in m.3243A > G/MT-TL1 mutation carriers: a quantitative EEG analysis.
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Scarabello Anna, Mason Federico, Ferri Lorenzo, Baccari Flavia, Maresca Alessandra, Morgia Chiara La, Belotti Laura Maria Beatrice, Licchetta Laura, Bisulli Francesca, Carelli Valerio, Vito Lidia Di
Аннотация
OBJECTIVE: The m.3243A > G/MT-TL1 mutation underlies a broad spectrum of clinical manifestations, varying from the mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome to incomplete phenotypes without stroke-like episodes (SLE), termed MELAS-Spectrum Syndrome (MSS). We systematically analyzed the longitudinal EEG changes in individuals carrying the m.3243A > G/MT-TL1 mutation through visual inspection of paroxysmal abnormalities and quantitative analysis of background activity.
METHODS: Adults with the m.3243A > G/MT-TL1 mutation and at least two EEG recordings during their follow-up were included. For each EEG, we obtained: 1) delta-theta/alpha energy ratio (ER); 2) Higuchi fractal dimension (HD); 3) paroxysmal activities (AR), quantified by two experienced clinicians. A linear mixed model assessed the effect of early SLE phases as a time-dependent covariate.
RESULTS: Sixteen patients (9 females) were recruited. ER significantly increased over time in temporal-parieto-occipital regions. EEG traces recorded shortly after SLEs showed significantly higher ER, lower HD, and an increasing AR trend.
CONCLUSIONS: Quantitative EEG metrics revealed a gradual disruption of posterior background rhythms in both MSS and MELAS. Early consequences of SLEs include background activity slowing, reduction of brain states complexity, and recrudescence of paroxysmal abnormalities.
SIGNIFICANCE: Neurophysiological signs of progressive brain dysfunction emerged in all individuals with m.3243A > G/MT-TL1 mutation, independently of SLEs.
METHODS: Adults with the m.3243A > G/MT-TL1 mutation and at least two EEG recordings during their follow-up were included. For each EEG, we obtained: 1) delta-theta/alpha energy ratio (ER); 2) Higuchi fractal dimension (HD); 3) paroxysmal activities (AR), quantified by two experienced clinicians. A linear mixed model assessed the effect of early SLE phases as a time-dependent covariate.
RESULTS: Sixteen patients (9 females) were recruited. ER significantly increased over time in temporal-parieto-occipital regions. EEG traces recorded shortly after SLEs showed significantly higher ER, lower HD, and an increasing AR trend.
CONCLUSIONS: Quantitative EEG metrics revealed a gradual disruption of posterior background rhythms in both MSS and MELAS. Early consequences of SLEs include background activity slowing, reduction of brain states complexity, and recrudescence of paroxysmal abnormalities.
SIGNIFICANCE: Neurophysiological signs of progressive brain dysfunction emerged in all individuals with m.3243A > G/MT-TL1 mutation, independently of SLEs.