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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, Ali N, Bremner F, Davagnanam I, Yousry TA, Hanna MG, Thornton JS - Eur Radiol (2015)

Bottom Line: Patients had reduced ROEM (patients 13.3°, controls 49.3°, p < 0.001), greater mean atrophy score and increased T1w hyperintensities.ROEM correlated negatively with EOM T2 (rho = -0.89, p < 0.01), whilst cross-sectional area failed to correlate with any clinical measures.Correlation between elevated EOM T2 and ROEM impairment represents a potential measure of disease severity that warrants further evaluation.

View Article: PubMed Central - PubMed

Affiliation: MRC 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.

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 extra-ocular 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.

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Box plot of control (blue) and patient (green) values in each extra-ocular muscle: range of motion (A), cross-sectional area (B) and T2 relaxation time (C). The box represents 25th – 75th percentiles, the solid line in the box represents the median value, stems are to maximum and minimum values, o = minor outlier; + = major outlier. IO inferior oblique, IR inferior rectus, LR lateral rectus, MR medial rectus, SO superior oblique, SR superior rectus
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Fig1: Box plot of control (blue) and patient (green) values in each extra-ocular muscle: range of motion (A), cross-sectional area (B) and T2 relaxation time (C). The box represents 25th – 75th percentiles, the solid line in the box represents the median value, stems are to maximum and minimum values, o = minor outlier; + = major outlier. IO inferior oblique, IR inferior rectus, LR lateral rectus, MR medial rectus, SO superior oblique, SR superior rectus

Mentions: The overall mean ROEM was reduced by 73 % in the patient group compared with controls (patients 13.3°, controls 49.3°, p < 0.001; Table 3), with a consistent reduction in individual EOM ROEMs (Fig. 1A). There was no overlap between patient and control range of movement values for any muscle. There was no significant quantitative difference in ROEM detected between the right and left orbit in patients or controls, or between the CPEO and KSS subgroups, when muscles were compared both individually and collectively.Table 3


Extra-ocular muscle MRI in genetically-defined mitochondrial disease.

Pitceathly RD, Morrow JM, Sinclair CD, Woodward C, Sweeney MG, Rahman S, Plant GT, Ali N, Bremner F, Davagnanam I, Yousry TA, Hanna MG, Thornton JS - Eur Radiol (2015)

Box plot of control (blue) and patient (green) values in each extra-ocular muscle: range of motion (A), cross-sectional area (B) and T2 relaxation time (C). The box represents 25th – 75th percentiles, the solid line in the box represents the median value, stems are to maximum and minimum values, o = minor outlier; + = major outlier. IO inferior oblique, IR inferior rectus, LR lateral rectus, MR medial rectus, SO superior oblique, SR superior rectus
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC4666274&req=5

Fig1: Box plot of control (blue) and patient (green) values in each extra-ocular muscle: range of motion (A), cross-sectional area (B) and T2 relaxation time (C). The box represents 25th – 75th percentiles, the solid line in the box represents the median value, stems are to maximum and minimum values, o = minor outlier; + = major outlier. IO inferior oblique, IR inferior rectus, LR lateral rectus, MR medial rectus, SO superior oblique, SR superior rectus
Mentions: The overall mean ROEM was reduced by 73 % in the patient group compared with controls (patients 13.3°, controls 49.3°, p < 0.001; Table 3), with a consistent reduction in individual EOM ROEMs (Fig. 1A). There was no overlap between patient and control range of movement values for any muscle. There was no significant quantitative difference in ROEM detected between the right and left orbit in patients or controls, or between the CPEO and KSS subgroups, when muscles were compared both individually and collectively.Table 3

Bottom Line: Patients had reduced ROEM (patients 13.3°, controls 49.3°, p < 0.001), greater mean atrophy score and increased T1w hyperintensities.ROEM correlated negatively with EOM T2 (rho = -0.89, p < 0.01), whilst cross-sectional area failed to correlate with any clinical measures.Correlation between elevated EOM T2 and ROEM impairment represents a potential measure of disease severity that warrants further evaluation.

View Article: PubMed Central - PubMed

Affiliation: MRC 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.

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 extra-ocular 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.

Show MeSH
Related in: MedlinePlus