Lesion Evolution and Neurodegeneration in RVCL-S
| Autor: | Andria L. Ford, M. Gilbert Grand, Jin-Moo Lee, Yewande Taiwo, Michael M. Binkley, Yasheng Chen, Peter B. Kang, Jason Hassenstab, Hongyu An, Doris D. M. Lin, Slim Fellah, Dennis E. Hourcade, Jonathan J. Miner, Madonna Bogacki, M. Kathryn Liszewski, Joanna C. Jen, Victoria W. Chin, John P. Atkinson, Allie M. Bodin, Vamshi Balasetti |
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| Rok vydání: | 2020 |
| Předmět: |
Adult
Male 0301 basic medicine Pathology medicine.medical_specialty Statement (logic) Ischemia Neuroimaging Fluid-attenuated inversion recovery Corrections Article White matter Leukoencephalopathy Lesion 03 medical and health sciences Atrophy 0302 clinical medicine Retinal Diseases medicine Humans Cognitive Dysfunction Vascular Diseases 030212 general & internal medicine medicine.diagnostic_test business.industry Neurodegeneration Magnetic resonance imaging Middle Aged medicine.disease Magnetic Resonance Imaging White Matter Dermatology Hereditary Central Nervous System Demyelinating Diseases 030104 developmental biology medicine.anatomical_structure Nerve Degeneration Female Neurology (clinical) medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Neurology article-version (Version of Record) 3 |
| ISSN: | 1526-632X 0028-3878 |
| DOI: | 10.1212/wnl.0000000000011323 |
| Popis: | ObjectiveTo characterize lesion evolution and neurodegeneration in retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) using multimodal MRI.MethodsWe prospectively performed MRI and cognitive testing in RVCL-S and healthy control cohorts. Gray and white matter volume and disruption of white matter microstructure were quantified. Asymmetric spin echo acquisition permitted voxel-wise oxygen extraction fraction (OEF) calculation as an in vivo marker of microvascular ischemia. The RVCL-S cohort was included in a longitudinal analysis of lesion subtypes in which hyperintense lesions on fluid-attenuated inversion recovery (FLAIR), T1-postgadolinium, and diffusion-weighted imaging were delineated and quantified volumetrically.ResultsTwenty individuals with RVCL-S and 26 controls were enrolled. White matter volume and microstructure declined faster in those with RVCL–S compared to controls. White matter atrophy in RVCL-S was highly linear (ρ = −0.908, p < 0.0001). Normalized OEF was elevated in RVCL-S and increased with disease duration. Multiple cognitive domains, specifically those measuring working memory and processing speed, were impaired in RVCL-S. Lesion volumes, regardless of subtype, progressed/regressed with high variability as a function of age, while FLAIR lesion burden increased near time to death (p < 0.001).ConclusionRVCL-S is a monogenic microvasculopathy affecting predominantly the white matter with regard to atrophy and cognitive impairment. White matter volumes in RVCL-S declined linearly, providing a potential metric against which to test the efficacy of future therapies. Progressive elevation of white matter OEF suggests that microvascular ischemia may underlie neurodegeneration in RVCL-S. |
| Databáze: | OpenAIRE |
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