Proof-of-principal: CE-certified automatic imaging analysis further defines disease specific MRI chracteristics in hereditary spastic paraplegia type 4 (SPG4), Lindig et al., 2022
E-Book 2022 DGN Virtualmeeting #440
T. Lindig, B. Bender, E. Bürkle, L. Schöls, T. W. Rattay
Hereditary spastic paraplegias (HSP) are a group of clinically and genetically heterogeneous disorders with the hallmark of progressive spastic gait disturbance. Usage of MR imaging biomarkers is limited to experts. Automatic quantitative reports provide access for clinicians to data analysis. We therefore set out to evaluate their usability in a small cohort of patients with hereditary spastic paraplegia type 4 (SPG4).
We analysed 3T MRI 3D-T1 datasets of 14 genetically confirmed SPG4 patients and 14 age and sex matched healthy controls using a commercial segmentation tool (AIRAscore structure 1.1.2) to test the usability for small cohorts, and to compare them to previous published VBM results.
We identified a reduction in total brain volume of 33.5 percentiles (p = 0.01) caused mainly by a reduction in white matter (28.8 percentiles, p = 0.008) in SPG4 patients compared to controls without reduction in total gray matter. Additionally involved brain regions which we were able to identify using the AIRAscore were the midbrain (28.3 percentiles, p = 0.025) and the formerly not detected hippocampus (19.6percentiles, p = 0.025) in SPG4.
Quantitative imaging reports proved to work as an easily accessible, fully automatic screening tool for clinicians even in a small cohort of a rare genetic disorder. We were able to delineate the involvement of white matter and specify involved brain regions to guide further detailed expert analysis. Group comparisons using percentiles allow us to confirm or predict results from VBM analyses and are therefore a suitable and simple screening tool for clinicians without in-depth knowledge of image processing.