Objectives Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare neurometabolic disorder caused by mutations in the SLC2A1 gene. GLUT1-DS is characterized by epilepsy, cognitive impairment, movement disorders, and gait abnormalities. In the present study we aimed to characterize gait features of GLUT1-DS by means of gait analysis based on a single inertial measurement unit. Methods We conducted a case-control study with 32 GLUT1-DS patients (22.4 ± 13.2 years; 13 males) and 32 matched healthy participants (HS). Participants underwent inertial gait analysis, providing spatio-temporal and trunk acceleration-derived gait indexes, including harmonic ratio (HR), largest Lyapunov exponent (sLLE), log-dimensionless jerk score of accelerations (LDLJa), and step length variability (CV). Results Compared to HS, GLUT1-DS patients showed decreased HR (P < 0.005) across all directions, reflecting reduced symmetry and smoothness of trunk acceleration during gait. sLLE was higher in GLUT1-DS, indicating gait instability (P < 0.005), and LDLJa was elevated (P = 0.001), corroborating lower smoothness of trunk accelerations. Step length variability was also higher in GLUT1-DS patients (P = 0.001). Interpretation The gait pattern of GLUT1-DS patients is marked by reduced fluidity, stability, and smoothness. Inertial gait analysis could be a valuable tool for monitoring GLUT1-DS progression and tailoring rehabilitative strategies.
Clinical and instrumental gait phenotyping in people with GLUT-1 deficiency syndrome / Corrado, Michele; Vacchini, Valeria; Celario, Massimiliano; Varesio, Costanza; Brancaccio, Carla; Grillo, Valentina; Cammarota, Francescantonio; Bighiani, Federico; Antoniazzi, Alessandro; Agostini, Beatrice; Vaghi, Gloria; Martinis, Luca; Campese, Ilaria; Alberto Quaranta, Carlo; Pasca, Ludovica; Guglielmetti, Monica; Valentino, Francesca; Trabassi, Dante; Castiglia, Stefano Filippo; Serrao, Mariano; Tassorelli, Cristina; Borgatti, Renato; De Giorgis, Valentina; De Icco, Roberto. - In: GAIT & POSTURE. - ISSN 0966-6362. - (2025). [10.1016/j.gaitpost.2025.07.326]
Clinical and instrumental gait phenotyping in people with GLUT-1 deficiency syndrome
Dante Trabassi;Stefano Filippo Castiglia;Mariano Serrao;
2025
Abstract
Objectives Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare neurometabolic disorder caused by mutations in the SLC2A1 gene. GLUT1-DS is characterized by epilepsy, cognitive impairment, movement disorders, and gait abnormalities. In the present study we aimed to characterize gait features of GLUT1-DS by means of gait analysis based on a single inertial measurement unit. Methods We conducted a case-control study with 32 GLUT1-DS patients (22.4 ± 13.2 years; 13 males) and 32 matched healthy participants (HS). Participants underwent inertial gait analysis, providing spatio-temporal and trunk acceleration-derived gait indexes, including harmonic ratio (HR), largest Lyapunov exponent (sLLE), log-dimensionless jerk score of accelerations (LDLJa), and step length variability (CV). Results Compared to HS, GLUT1-DS patients showed decreased HR (P < 0.005) across all directions, reflecting reduced symmetry and smoothness of trunk acceleration during gait. sLLE was higher in GLUT1-DS, indicating gait instability (P < 0.005), and LDLJa was elevated (P = 0.001), corroborating lower smoothness of trunk accelerations. Step length variability was also higher in GLUT1-DS patients (P = 0.001). Interpretation The gait pattern of GLUT1-DS patients is marked by reduced fluidity, stability, and smoothness. Inertial gait analysis could be a valuable tool for monitoring GLUT1-DS progression and tailoring rehabilitative strategies.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
