Gait Characteristics and Their Discriminative Ability in Patients with Fabry Disease with and Without White-Matter Lesions.

Fabry disease (FD) is a rare disease commonly complicated with white matter lesions (WMLs). WMLs, which have extensively been associated with gait impairment, justify further investigation of its implication in FD. This study aims to identify a set of gait characteristics to discriminate FD patients with/without WMLs and healthy controls. Seventy-six subjects walked through a predefined circuit using gait sensors that continuously acquired different stride features. Data were normalized using multiple regression normalization taking into account the subject physical properties, with the assessment of 32 kinematic gait variables. A filter method (Mann Whitney U test and Pearson correlation) followed by a wrapper method (recursive feature elimination (RFE) for Logistic Regression (LR) and Support Vector Machine (SVM) and information gain for Random Forest (RF)) were used for feature selection. Then, five different classifiers (LR, SVM Linear and RBF kernel, RF, and K-Nearest Neighbors (KNN)) based on different selected set features were evaluated. For FD patients with WMLs versus controls the highest accuracy of 72% was obtained using LR based on 3 gait variables: pushing, foot flat, and maximum toe clearance 2. For FD patients without WMLs versus controls, the best performance was observed using LR and SVM RBF kernel based on loading, foot flat, minimum toe clearance, stride length variability, loading variability, and lift-off angle variability with an accuracy of 83%. These findings are the first step to demonstrate the potential of machine learning techniques based on gait variables as a complementary tool to understand the role of WMLs in the gait impairment of FD.