Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease of the motor system and its wider cortical connections. Progress in therapeutic development in ALS is compromised by a lack of specific biomarkers. In this work, we describe a platform for QSM data acquisition and post-processing protocol for postmortem brains. Preliminary results of 10 brains (validated with quantitative ferritin staining) have shown that ALS brains had significant higher mean susceptibility in motor cortex than control brains, which indicates that QSM has the potential to accurately quantify iron concentration and thus serve as an imaging biomarker for ALS.
Data acquisition
We scanned ten formalin-fixed brains (seven ALS, three control) at 7T (Siemens, 1Tx/32Rx coil). Brain samples were packed in a custom-built container filled with susceptibility-matched liquid (Fluorinert). Scanning used a 3D multi-echo GRE sequence: TR=38ms, TE1=2ms, ΔTE=6.6ms, number of echoes=6, flip angle=15°, pixel bandwidth=651Hz, 0.5*0.5*0.6mm3, four repeats. Diffusion and structural scans were additionally acquired as described previously4.
QSM processing pipeline (Figure 1)
Quantitative analysis
The Fractional Anisotropy maps obtained from the diffusion datasets were used for gray-white segmentation. Masks of the motor cortex (M1) for face, hand and leg sub-areas separated were hand-drawn in the diffusion space. Visual cortex (V2) masks were generated from the Juelich atlas9,10. M1 and V2 masks were then co-registered to the QSM data using FLIRT5. The mean susceptibility values (in parts per billion) in M1 were normalized to the V2 control region, with the aim of accounting for global effects such as post-mortem interval that might vary across specimen. Tissue sections corresponding to the leg area of M1 and V2 for the left hemisphere were processed for ferritin staining. Iron concentration was quantified as the stained area fraction, and M1 values were normalized by V2 values for comparison to QSM.
Representative QSM images are shown in Figure 2 for an ALS brain, demonstrating the overall quality of both the data and performance of the processing pipeline.
Mean susceptibility ($$$\triangle \chi_{mean}$$$) values of different M1 regions (normalized to V2) are given in Figure 3 with one-tailed t-tests. Normalized $$$\triangle \chi_{mean}$$$ of ALS brains in the face and hand M1 regions are significantly higher than that of controls (p=0.003 and p<0.0001, respectively). There was no significant difference for normalized $$$\triangle \chi_{mean}$$$ between ALS and control brains in leg M1 region (p=0.18). Examined as a whole, the normalized mean susceptibility of M1 in ALS brains is significantly greater than that of controls (p<0.0005).
Quantitative iron histopathology (ferritin staining) were performed for the left leg M1 region and V2, with. M1 results normalized by V2. Correlation between susceptibility and ferritin staining results is R2=0.2727 (p=0.061). These results are close to significance, but also demonstrate considerable variation across both ALS and controls.
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