ArticleJournal of neurology2019
Brain white matter changes in asymptomatic carriers of Leber's hereditary optic neuropathy.
Article in Journal of neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 16 citations in OpenAlex.
- Abnormal cerebral blood flow in patients with Leber's hereditary optic neuropathy.Brain imaging and behavior · 2023Article
- Neuroimaging in Leber Hereditary Optic Neuropathy: State-of-the-art and future prospects.NeuroImage. Clinical · 2022Review
- Aberrant neurovascular coupling in Leber's hereditary optic neuropathy: Evidence from a multi-model MRI analysis.Frontiers in neuroscience · 2022Article
- Characterization of Brain Microstructural Abnormalities in High Myopia Patients: A Preliminary Diffusion Kurtosis Imaging Study.Korean journal of radiology · 2021Article
- Leber's hereditary optic neuropathy with diffuse white matter changes mimicking gliomatosis cerebri: illustrative case.Journal of neurosurgery. Case lessons · 2021Article
- Oxidative Stress Profile in Genetically Confirmed Cases of Leber's Hereditary Optic Neuropathy.Journal of molecular neuroscience : MN · 2021Article
- Factors Influencing Central Nervous System Abnormalities in m.11778G>A Carriers.Brain sciences · 2020Article
- Neuroanatomical Changes in Leber's Hereditary Optic Neuropathy: Clinical Application of 7T MRI Submillimeter Morphometry.Brain sciences · 2020Article
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveSubclinical abnormalities, including microangiopathy, swelling of nerve fibers, visual field abnormalities and visual functional impairments had been reported in Leber's hereditary optic neuropathy (LHON) carriers. The purpose of this study was to investigate microstructural changes of brain white matter in asymptomatic LHON carriers using DTI and tract-based spatial statistics (TBSS).
methodsDTI and neuro-ophthalmologic measurements were acquired in 14 LHON carriers and 15 gender- and age-matched healthy controls, and diffusion metrics, including fractional anisotropy (FA), axial (AD), radial diffusion (RD) and mean diffusion (MD) were calculated. Intergroup differences in diffusion metrics were compared regressing out potential nuisance covariates of age and gender. A correlation analysis was performed to test associations between abnormal neuro-ophthalmologic measures and diffusion metrics while controlling the effects of age and gender.
resultsCompared to healthy controls, LHON carriers showed a weak increase of thickness of the retinal nerve fiber layer (RNFL) of the right inferior quadrant (F = 5.22, p = 0.032, before multiple comparison correction). LHON carriers exhibited widespread decreased FA value (bilateral anterior thalamic radiations, bilateral corticospinal tracts, major and minor forceps, bilateral inferior fronto-occipital fasciculi and left superior longitudinal fasciculus), increased RD value (bilateral anterior thalamic radiations, bilateral corticospinal tracts, major and minor forceps, bilateral inferior fronto-occipital fasciculi, bilateral inferior longitudinal fasciculi, bilateral superior longitudinal fasciculi and bilateral uncinate fasciculi) and increased MD value (bilateral anterior thalamic radiations, bilateral corticospinal tracts, minor forceps, bilateral inferior fronto-occipital fasciculi, bilateral inferior longitudinal fasciculi, left superior longitudinal fasciculus and bilateral uncinate fasciculi). Moreover, these changed diffusion metrics were not correlated with age, gender, LHON mutations and retinal measures in LHON carriers.
conclusionOur results show microstructural alterations in brain white matter in asymptomatic LHON carriers, indicating that LHON-related genetic mutations themselves might result in occult white matter alterations in the brain.
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