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Extra-ocular muscle MRI in genetically-defined mitochondrial disease

Pitceathly, RD; Morrow, JM; Sinclair, CD; Woodward, C; Sweeney, MG; Rahman, S; Plant, GT; ... Thornton, JS; + view all (2015) Extra-ocular muscle MRI in genetically-defined mitochondrial disease. European Radiology , 26 pp. 130-137. 10.1007/s00330-015-3801-5. Green open access

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Abstract

Objectives Conventional and quantitative MRI was performed in patients with chronic progressive external ophthalmoplegia (CPEO), a common manifestation of mitochondrial disease, to characterise MRI findings in the extraocular muscles (EOMs) and investigate whether quantitative MRI provides clinically relevant measures of disease. Methods Patients with CPEO due to single mitochondrial DNA deletions were compared with controls. Range of eye movement (ROEM) measurements, peri-orbital 3 T MRI T1- weighted (T1w) and short-tau-inversion-recovery (STIR) images, and T2 relaxation time maps were obtained. Blinded observers graded muscle atrophy and T1w/STIR hyperintensity. Cross-sectional areas and EOM mean T2s were recorded and correlated with clinical parameters. Results Nine patients and nine healthy controls were examined. Patients had reduced ROEM (patients 13.3°, controls 49.3°, p<0.001), greater mean atrophy score and increased T1w hyperintensities. EOM mean cross-sectional area was 43 % of controls and mean T2s were prolonged (patients 75.6±7.0 ms, controls 55.2±4.1 ms, p<0.001). ROEM correlated negatively with EOM T2 (rho=−0.89, p<0.01), whilst cross-sectional area failed to correlate with any clinical measures. Conclusions MRI demonstrates EOM atrophy, characteristic signal changes and prolonged T2 in CPEO. Correlation between elevated EOM T2 and ROEM impairment represents a potential measure of disease severity that warrants further evaluation. Key Points • Chronic progressive external ophthalmoplegia is a common clinical manifestation of mitochondrial disease. • Existing extra-ocular muscle MRI data in CPEO reports variable radiological findings. • MRI confirmed EOM atrophy and characteristic signal changes in CPEO. • EOM T2 was significantly elevated in CPEO and correlated negatively with ocular movements. • EOM T2 represents a potential quantitative measure of disease severity in CPEO.

Type: Article
Title: Extra-ocular muscle MRI in genetically-defined mitochondrial disease
Open access status: An open access version is available from UCL Discovery
DOI: 10.1007/s00330-015-3801-5
Publisher version: http://dx.doi.org/10.1007/s00330-015-3801-5
Language: English
Additional information: © The Author(s) 2015. This article is published with open access at Springerlink.com This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/), which permits any noncommercial use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
Keywords: Magnetic resonance imaging . Mitochondrial diseases . Mitochondrial DNA . Chronic progressive external ophthalmoplegia . Kearns-Sayre syndrome
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Brain Repair and Rehabilitation
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI: https://discovery.ucl.ac.uk/id/eprint/1472666
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