Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy.
Abstract | BACKGROUND AND PURPOSE: MATERIALS AND METHODS: Seven patients underwent brain MR imaging, including single-voxel proton MR spectroscopy and diffusion imaging. Absolute concentrations of metabolites calculated by acquiring unsuppressed water spectra at multiple TEs, along with diffusion metrics based on the tensor model, were compared with those of healthy controls using unpaired t tests in multiple white matters regions. Brain postmortem histologic, immunohistochemical, and molecular analyses were performed in 1 patient. RESULTS: All patients showed bilateral and nearly symmetric cerebral white matter hyperintensities on T2-weighted images, extending to the cerebellar white matter and brain stem in 4. White matter, N-acetylaspartate, creatine, and choline concentrations were significantly reduced compared with those in controls, with a prominent increase in the radial water diffusivity component. At postmortem examination, severe fibrosis of brain vessel smooth muscle was evident, along with mitochondrial DNA replication depletion in brain and vascular smooth-muscle and endothelial cells, without neuronal loss, myelin damage, or gliosis. Prominent periependymal cytochrome C oxidase deficiency was also observed. CONCLUSIONS:
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Authors | L L Gramegna, A Pisano, C Testa, D N Manners, R D'Angelo, E Boschetti, F Giancola, L Pironi, L Caporali, M Capristo, M L Valentino, G Plazzi, C Casali, M T Dotti, G Cenacchi, M Hirano, C Giordano, P Parchi, R Rinaldi, R De Giorgio, R Lodi, V Carelli, C Tonon |
Journal | AJNR. American journal of neuroradiology
(AJNR Am J Neuroradiol)
Vol. 39
Issue 3
Pg. 427-434
(Mar 2018)
ISSN: 1936-959X [Electronic] United States |
PMID | 29348134
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | © 2018 by American Journal of Neuroradiology. |
Topics |
- Adult
- Brain
(metabolism, pathology)
- Cerebral Small Vessel Diseases
(etiology, metabolism, pathology)
- Diffusion Magnetic Resonance Imaging
- Female
- Humans
- Leukoencephalopathies
(etiology, metabolism, pathology)
- Male
- Mitochondria
(metabolism, pathology)
- Mitochondrial Encephalomyopathies
(complications, metabolism, pathology)
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