Proof of principle for the clinical use of a CE-certified automatic imaging analysis tool in rare diseases studying hereditary spastic paraplegia type 4 (SPG4), Lindig et al., 2022
Scientific Reports 2022
T. Lindig, B. Bender, E. Bürkle, V. Kumar, U. Ernemann, L. Schöls, T. W. Rattay
Usage of MR imaging biomarkers is limited to experts. Automatic quantitative reports provide access for clinicians to data analysis. Automated data analysis was tested for usability in a small cohort of patients with hereditary spastic paraplegia type 4 (SPG4). We analyzed 3T MRI 3D-T1 datasets of n = 25 SPG4 patients and matched healthy controls using a commercial segmentation tool (AIRAscore structure 2.0.1) and standard VBM. In SPG4 total brain volume was reduced by 27.6 percentiles (p = 0.001) caused mainly by white matter loss (− 30.8th, p < 0.001) and stable total gray matter compared to controls. Brain volume loss occurred in: midbrain (− 41.5th, p = 0.001), pons (− 36.5th, p = 0.02), hippocampus (− 20.9th, p = 0.002), and gray matter of the cingulate gyrus (− 17.0th, p = 0.02). Ventricular volumes increased as indirect measures of atrophy. Group comparisons using percentiles aligned with results from VBM analyses. 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 could delineate the involvement of white matter and specify involved brain regions. Group comparisons using percentiles provide comparable results to VBM analysis and are, therefore, a suitable and simple screening tool for all clinicians with and without in-depth knowledge of image processing.