Quantitative nuclear magnetic resonance imaging detects subclinical changes over 1 year in skeletal muscle of GNE myopathy

Gidaro, T.; Reyngoudt, Harmen; Louër, Julien Le; Béhin, Anthony; Toumi, Férial; Villeret, M.; Araujo, E.; Baudin, Pierre‐Yves; Marty, Benjamin; Annoussamy, M.; Hogrel, Jean‐Yves; Carlier, Pierre; Servais, Laurent

doi:10.1007/s00415-019-09569-6

Cited by 14 publications

(28 citation statements)

References 39 publications

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“…Recent studies have demonstrated the role of DTI in the detection and quantification of muscle fibers fat replacement [ 20 , Table 1 ]; FA is a parameter used to quantify the directional orientation of water molecules within the fibers; FA values are ranged between 0 and 1: in principle, when [ [1] , [2] , [3] , [4] , [5] , [6] , [7] , [8] , [9] , [10] , [11] , [12] , [13] , [14] , [15] , [16] , [17] , [18] , [19] , [20] , [21] , [22] , [23] , [24] , [25] ] tissues are intact, water is forced to move in a specific direction and the FA value is close to 1; unexpectedly patients with severe fat replacement show positive correlation with FA values and negative correlation with Apparent Diffusion Coefficient (ADC); a possible explanation is the artificial increase of FA values in patients with more than 40–45% fat muscle infiltration [ 25 ]. In our cases DTI showed that nusinersen treatment may have a positive effect on size, length and organization of fiber tracts raising the potential neurogenic rescue even in long-standing chronic SMA patients.…”

Section: Discussionmentioning

confidence: 99%

“…Furthermore limited data are available on muscle degeneration and neurophysiology over time, and this is often a limiting factor in interpreting the impact of any treatment in these patients. In several neuromuscular disorders, muscle MRI is increasingly used to identify a specific pattern of muscular involvement [ 9 , 10 ], to monitor progression [ 11 ], to quantify the effects of treatment on muscle structure [ 12 ], and in some pharmacological trials as a potential biomarker [ 13 ]. Only a few MRI studies have described the pattern of muscular involvement in the different subtypes of SMA [ [14] , [15] , [16] ].…”

Section: Introductionmentioning

confidence: 99%

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Muscle MRI in two SMA patients on nusinersen treatment: A two years follow-up

Barp

Carraro

Albamonte

et al. 2020

Journal of the Neurological Sciences

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Introduction: The effects of nusinersen in adults with SMA rely on neuromotor function scales and qualitative assessments. There are limited clinical or imaging data on muscle changes over time. Methods: Two adult SMA patients underwent clinical assessments including measures of upper and lower limb function with Revised Upper Limb Module (RULM) and Hammersmith Function Motor Scale Expanded (HFMSE); both patients were also studied with whole-body muscle MRI (T1-weighted and Diffusion Tensor Imaging/DTI sequences), at baseline and after 10 and 24 months from the beginning of treatment with nusinersen. Results: After two years of treatment, HFMSE and RULM scores were stable in both patients. DTI sequences revealed an increased number, length and organization of muscle fiber tracks, and Fractional Anisotropy (FA) values showed a significant reduction after 10 and 24 months from baseline, in their corresponding maps. Discussion: Muscle DTI imaging seems to play an interesting role to monitor treatment effects over time in adult SMA patients.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Muscle MRI in two SMA patients on nusinersen treatment: A two years follow-up

Barp

Carraro

Albamonte

et al. 2020

Journal of the Neurological Sciences

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“…4 Particularly, fat-fraction mapping methods allow to quantitatively monitor the replacement of muscle by fat, the common final pathway in most NMDs, thus providing an objective marker of disease progression. 5,6 However, precise measures allowing monitoring the different pathophysiological processes and the histopathological alterations involved in the degenerative process would significantly improve the assessment of the effects and efficacy of therapies. 7 The water T 2 -relaxation in skeletal muscle has been shown to be sensitive, although not specific, to several pathological and even physiological processes affecting the water distribution and protein hydration in tissue, such as exercise, injury, interstitial edema, inflammation, necrosis, cell swelling, and acidification.…”

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confidence: 99%

“…In this context, quantitative magnetic resonance imaging (MRI) has been playing an important role in clinical trials 4 . Particularly, fat‐fraction mapping methods allow to quantitatively monitor the replacement of muscle by fat, the common final pathway in most NMDs, thus providing an objective marker of disease progression 5,6 . However, precise measures allowing monitoring the different pathophysiological processes and the histopathological alterations involved in the degenerative process would significantly improve the assessment of the effects and efficacy of therapies 7 …”

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confidence: 99%

Multiexponential Analysis of the Water T2‐Relaxation in the Skeletal Muscle Provides Distinct Markers of Disease Activity Between Inflammatory and Dystrophic Myopathies

Araujo

Marty

Carlier

et al. 2020

Magnetic Resonance Imaging

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Background: The monoexponential water T 2 (T 2-mono) is a proven biomarker of disease activity in neuromuscular disorders (NMDs). However, it lacks specificity, being elevated in the presence of several pathological processes and pathomorphological alterations in the muscle tissue. Purpose: To investigate the multiexponential behavior of the water T 2-relaxation in the skeletal muscle of NMD patients, aiming to identify more sensitive and specific biomarkers of disease activity. Study Type: Retrospective case-control. Population: Thirty Duchenne muscular dystrophy and 114 inclusion body myositis patients and 55 control subjects. Field Strength/Sequence: 3T/Single-voxel proton spectroscopy (1 H-MRS) and multispin-echo (MSE) imaging. Assessment: Water T 2-decay curves generated from 1 H-MRS data acquired at 14 echo-times were fitted to mono-and biexponential models and the adjusted R 2 of each fit was computed. Additionally, T 2 spectra were generated from a regularized inverse Laplace transform. For comparison, water T 2 maps were generated from the MSE data. The performances of the different variables at identifying patients were assessed via receiver operating characteristic (ROC)-curve analysis. Statistical Tests: Chi-square, Kruskal-Wallis, and Mann-Whitney with Bonferroni correction for multiple comparisons. Results: T 2-mono was elevated in patients (P<0.05), but could not distinguish inclusion body myositis (IBM) from Duchenne muscular dystrophy (DMD). While 79% of IBM data presented a biexponential behavior, this was only 16% and 10% for DMD and control data, respectively (P<0.05). All T 2 spectra presented an intermediate-T 2 peak characterized by an elevated T 2 in patients (P<0.05) and by a relative fraction that was abnormally smaller in IBM patients (P<0.05). Also, a long-T 2 peak was exclusively observed in IBM patients. A combination of T 2-spectrum variables performed best at identifying patients. Data Conclusion: T 2 spectra not only provided more sensitive and specific markers of disease presence than the T 2-mono , but also allowed distinguishing IBM from DMD patients. This must reflect distinct predominant pathological alterations between these diseases, suggesting that these markers provide additional pathophysiological/histopathological information that are missing from T 2-mono. Level of Evidence: 3 Technical Efficacy Stage: 3

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“…every eight slices) as previously reported to yield accurate estimates of muscle volume 23 . For each slice, the whole muscle cross‐sectional area (CSA MRI ) was computed and the lean muscle cross‐sectional area (lCSA MRI ) was obtained by removing the contribution of adipose tissue using FF maps 24 . Subsequently, values for CSA MRI and lCSA MRI were fitted using cubic spline interpolation for computing volumes.…”

Section: Methodsmentioning

confidence: 99%

Lean regional muscle volume estimates using explanatory bioelectrical models in healthy subjects and patients with muscle wasting

Bachasson

Ayaz

Mosso

et al. 2020

J cachexia sarcopenia muscle

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Background The availability of non‐invasive, accessible, and reliable methods for estimating regional skeletal muscle volume is paramount in conditions involving primary and/or secondary muscle wasting. This work aimed at (i) optimizing serial bioelectrical impedance analysis (SBIA) by computing a conductivity constant based on quantitative magnetic resonance imaging (MRI) data and (ii) investigating the potential of SBIA for estimating lean regional thigh muscle volume in patients with severe muscle disorders. Methods Twenty healthy participants with variable body mass index and 20 patients with idiopathic inflammatory myopathies underwent quantitative MRI. Anatomical images and fat fraction maps were acquired in thighs. After manual muscle segmentation, lean thigh muscle volume (lVMRI) was computed. Subsequently, multifrequency (50 to 350 kHz) serial resistance profiles were acquired between current skin electrodes (i.e. ankle and hand) and voltage electrodes placed on the anterior thigh. In vivo values of the muscle electrical conductivity constant were computed using data from SBIA and MRI gathered in the right thigh of 10 healthy participants. Lean muscle volume (lVBIA) was derived from SBIA measurements using this newly computed constant. Between‐day reproducibility of lVBIA was studied in six healthy participants. Results Electrical conductivity constant values ranged from 0.82 S/m at 50 kHz to 1.16 S/m at 350 kHz. The absolute percentage difference between lVBIA and lVMRI was greater at frequencies >270 kHz (P < 0.0001). The standard error of measurement and the intra‐class correlation coefficient for lVBIA computed from measurements performed at 155 kHz (i.e. frequency with minimal difference) against lVMRI were 6.1% and 0.95 in healthy participants and 9.4% and 0.93 in patients, respectively. Between‐day reproducibility of lVBIA was as follows: standard error of measurement = 4.6% (95% confidence interval [3.2, 7.8] %), intra‐class correlation coefficient = 0.98 (95% confidence interval [0.95, 0.99]). Conclusions These findings demonstrate a strong agreement of lean muscle volume estimated using SBIA against quantitative MRI in humans, including in patients with severe muscle wasting and fatty degeneration. SBIA shows promises for non‐invasive, fast, and accessible estimation and follow‐up of lean regional skeletal muscle volume for transversal and longitudinal studies.

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Quantitative nuclear magnetic resonance imaging detects subclinical changes over 1 year in skeletal muscle of GNE myopathy

Cited by 14 publications

References 39 publications

Muscle MRI in two SMA patients on nusinersen treatment: A two years follow-up

Muscle MRI in two SMA patients on nusinersen treatment: A two years follow-up

Multiexponential Analysis of the Water T2‐Relaxation in the Skeletal Muscle Provides Distinct Markers of Disease Activity Between Inflammatory and Dystrophic Myopathies

Lean regional muscle volume estimates using explanatory bioelectrical models in healthy subjects and patients with muscle wasting

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