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Extra-ocular muscle MRI in genetically-defined mitochondrial disease
Robert D S Pitceathly1, Jasper M Morrow2, Christopher D J Sinclair2,3
1MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK. r.pitceathly@ucl.ac.uk.
Quantitative MRI reveals extra-ocular muscle (EOM) atrophy and prolonged T2 in chronic progressive external ophthalmoplegia (CPEO). Elevated EOM T2 correlates with impaired eye movements, offering a potential measure of disease severity in this mitochondrial disorder.
Area of Science:
- Neurology
- Radiology
- Mitochondrial Genetics
Background:
- Chronic progressive external ophthalmoplegia (CPEO) is a frequent manifestation of mitochondrial disease.
- Existing MRI data for extra-ocular muscles (EOMs) in CPEO show varied findings.
- Understanding EOM changes in CPEO is crucial for disease assessment.
Purpose of the Study:
- To characterize MRI findings in EOMs of CPEO patients.
- To evaluate quantitative MRI measures for clinical relevance in CPEO.
- To investigate the relationship between MRI findings and disease severity.
Main Methods:
- Conventional and quantitative 3 T MRI (T1w, STIR, T2 maps) were performed on CPEO patients and controls.
- Range of eye movement (ROEM) was measured.
- EOM atrophy, signal hyperintensities, cross-sectional area, and mean T2 relaxation times were assessed and correlated with clinical data.
Main Results:
- CPEO patients exhibited significantly reduced ROEM, greater EOM atrophy, and increased T1w hyperintensities compared to controls.
- EOM cross-sectional area was reduced by 43% in patients.
- Mean EOM T2 relaxation times were significantly prolonged in CPEO patients (75.6 ms vs. 55.2 ms).
Conclusions:
- MRI confirms EOM atrophy and characteristic signal alterations in CPEO.
- Elevated EOM T2 values significantly correlate with impaired ROEM, suggesting it as a potential quantitative biomarker for CPEO disease severity.
- Quantitative MRI, particularly EOM T2, warrants further investigation as a clinically relevant measure for CPEO.
