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Epilepsy in MT‐ATP6 ‐ related mils/NARP: correlation of elettroclinical features with heteroplasmy
- Source :
- Annals of Clinical and Translational Neurology, Vol 8, Iss 3, Pp 704-710 (2021), Annals of Clinical and Translational Neurology
- Publication Year :
- 2021
- Publisher :
- Wiley, 2021.
-
Abstract
- The study aims to characterize the epilepsy phenotype of maternally inherited Leigh's syndrome (MILS) and neuropathy, ataxia, retinitis pigmentosa (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.
- Subjects :
- 0301 basic medicine
Male
Electroencephalography
medicine.disease_cause
progressive myoclonic epilepsy (PME)
Severity of Illness Index
Epilepsy
0302 clinical medicine
maternally inherited Leigh's syndrome (MILS)
Mutation
medicine.diagnostic_test
biology
General Neuroscience
Mitochondrial Myopathies
Middle Aged
Mitochondrial Proton-Translocating ATPases
MT-ATP6 MT-ATP6
Heteroplasmy
Pedigree
Child, Preschool
MT-ATP6
Female
medicine.symptom
Leigh Disease
Brief Communications
Retinitis Pigmentosa
RC321-571
Adult
medicine.medical_specialty
Ataxia
Neurosciences. Biological psychiatry. Neuropsychiatry
Brief Communication
MT‐ATP6 MT‐ATP6
03 medical and health sciences
Internal medicine
Retinitis pigmentosa
medicine
Humans
RC346-429
neuropathy, ataxia, retinitis pigmentosa (NARP)
business.industry
medicine.disease
Brain Waves
030104 developmental biology
Endocrinology
biology.protein
epilepsy
Neurology (clinical)
Neurology. Diseases of the nervous system
business
Asymptomatic carrier
030217 neurology & neurosurgery
Subjects
Details
- Language :
- English
- ISSN :
- 23289503
- Volume :
- 8
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Annals of Clinical and Translational Neurology
- Accession number :
- edsair.doi.dedup.....c24ee1c2146f6edb4fd299b45baa11f4