One-year longitudinal assessment of CMT1A patients using Quantitative MRI

Motivation: Intramuscular fat fraction (FF) quantified using MRI has emerged as one of the few responsive outcome measures in neuropathic patients. Goal(s): In the present one-year follow-up study we tracked changes in multiple qMRI biomarkers for CMT1A patients. Approach: We assessed correlations between MRI and clinical parameters and compared 2D vs 3D segmentation analysis. Results: As expected, we quantified a significant FF rise in both thigh and leg muscles and a length-dependent gradient in leg muscles. Given the varied FF distribution, the existence of a length-dependent gradient, and the differential fatty involution across muscles, 3D volume analysis appeared more faithful than single slice analysis. Impact: Our longitudinal study further supports FF as a outcome of interest in neuropathic patients. The complexity of fat infiltration in terms of distribution among muscles and heterogeneity along the proximo-distal axis can be identified using a 3D volume analysis.