Brain magnetic resonance imaging of patients with spinal muscular atrophy type 2 and 3

Figures

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  Fig. 1. Regions with reduced mean cortical thickness in patients with SMA compared to healthy controls Results of whole brain, region-wise analysis of mean cortical thickness in patients with SMA compared to healthy controls. A blue value indicates that the cortex is significantly thinner in SMA patients compared to healthy controls: i.e. at the precentral, postcentral, medial orbitofrontal gyrus and temporal pole. The color bar shows the corresponding p-value.

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  Fig. 2. Regions with reduced mean cortical thickness in SMA patients compared to healthy controls, including subtype analyses. Results of participant subgroup analyses of mean cortical thickness. These were performed in brain regions that were found to be significantly different between patients with SMA and healthy controls in the whole-brain, region-wise analysis. Estimated marginal means with 95 % confidence intervals; *p < 0.05.

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  Fig. 3. Correlation between cortical thickness at the temporal pole and clinical scores in SMA patients. Results of correlation analysis by multivariable linear regression model. There is a positive correlation between cortical thickness at the temporal pole and SMA-FRS score (β: 0.005; 95 %CI: 0.002–0.009; FDR corrected: p = 0,006) and HFMSE (β: 0.004; 95 %CI: 0.002–0.007; FDR corrected p-value = 0.006). Note that the individual data points are raw values, whereas the correlation lines are the result of the multivariable linear model. SMA-FRS = SMA Functional Rating Scale; HFMSE = Hammersmith Functional Motor Scale Expanded.

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  Fig. 4. Reduced thalamic volumes in SMA patients compared to healthy controls, including subtype analyses. Results of participant subgroup analyses of thalamic volumes. These were performed for volumes/thalamic nuclei that were found to be significantly different between patients with SMA and healthy controls in the initial analysis: i.e. the whole thalamus and anterior, ventral and intralaminar thalamic nuclei. Estimated marginal means with 95 % confidence intervals; *p < 0.05.

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  Fig. 5. Correlation between thalamic volume and clinical scores in SMA patients. Results of correlation analysis by multivariable linear regression model. There is a positive correlation between mean thalamus volume and SMA-FRS score (β: 13.83; 95 %CI: 5.12–22.54; FDR corrected p-value = 0.007) and HFMSE score (β: 10.15; 95 %CI: 3.00–17.30; FDR corrected p-value = 0.012. Note that the individual data points are raw values, whereas the correlation lines are the result of the multivariable linear model. SMA-FRS = SMA Functional Rating Scale; HFMSE = Hammersmith Functional Motor Scale Expanded.

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  Fig. 6. Thalamic nuclei with reduced volume in patients with SMA compared to healthy controls. Results of the analysis of volumes of thalamic nuclei in patients with SMA compared to healthy controls. Blue value indicates that the volume is significantly smaller in SMA patients compared to healthy controls (p-values ≤ 0.02), i.e. the anterior, ventral and intralaminar thalamic nuclei. Dashed circle: We analyzed the motor and sensory part of the ventral nucleus combined.

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  Fig. 7. Correlation between volumes of thalamic nuclei and clinical scores in SMA patients. Results of correlation analysis by multivariable linear regression model. There is a positive correlation between ventral nuclei group volume and SMA-FRS score (β: 7.63; 95 %CI: 4.41–10.84; FDR corrected p-value < 0.001) and HFMSE score (β: 5.66; 95 %CI: 2.94–8.37; FDR corrected p-value = 0.001). There is a positive correlation between intralaminar nuclei group volume and SMA-FRS score (β:1.14; 95 %CI: 0.46–1.91; FDR corrected p-value = 0.006) and HFMSE score (β:0.84; 95 %CI: 0.28–1.39; FDR corrected p-value = 0.009) Note that the individual data points are raw values, whereas the correlation lines are the result of the multivariable linear model. SMA-FRS = SMA Functional Rating Scale; HFMSE = Hammersmith Functional Motor Scale Expanded.