Open AccessEpilepsy in MT ‐ ATP6 ‐ related mils/NARP: correlation of elettroclinical features with heteroplasmy
Author(s) -
Licchetta Laura,
Ferri Lorenzo,
La Morgia Chiara,
Zenesini Corrado,
Caporali Leonardo,
Lucia Valentino Maria,
Minardi Raffaella,
Fulitano Daniela,
Di Vito Lidia,
Mostacci Barbara,
Alvisi Lara,
Avoni Patrizia,
Liguori Rocco,
Tinuper Paolo,
Bisulli Francesca,
Carelli Valerio
Publication year - 2021
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.51259
Subject(s) - heteroplasmy , epilepsy , medicine , asymptomatic , correlation , electroencephalography , abnormality , mutation , ataxia , gastroenterology , genetics , biology , psychiatry , gene , geometry , mathematics
The study aims to characterize the epilepsy phenotype of m aternally i nherited L eigh's s yndrome (MILS) and n europathy, a taxia, r etinitis p igmentosa (NARP) due to mutations in the mitochondrial ATP6 gene and to correlate electroclinical features with mutant heteroplasmy load (HL). We investigated 17 individuals with different phenotype, from asymptomatic carriers to MILS: 11 carried the m.8993T> G mutation, 5 the m.8993T> C and one the novel, de novo m.8858G> A mutation. Seizures occurred in 37.5% of patients, EEG abnormalities in 73%. We ranked clinical and EEG abnormalities severity and performed quantitative EEG to estimate Abnormality Ratio (AR) and Spectral Relative Power (SRP). Spearman’s rho and Kruskal–Wallis test were used for correlation with heteroplasmy load (HL). HL correlated with disease severity (Rho = 0.63, P = 0.012) and was significantly higher in patients with seizures or EEG abnormalities ( P = 0.014). HL correlated with EEG severity score only for the m.8993T> G (Rho = 0.73, P = 0.040), showing a trend toward a positive correlation with AR and delta SPR, irrespective of the mutation.