Objective: We aimed to compare standing balance and postural conditions between RFC1 patients and healthy controls.

Background: RFC1-related ataxia is a progressive neurological disorder affecting motor coordination, balance, and gait. Wearable sensors offer a promising approach for quantifying ataxia-specific impairments, as their uses remain unexplored.

Method: Twenty one with molecular confirmed RFC1-related ataxia and 21 age and sex-matched controls were tested to assess parameters.The severity of ataxia was assessed using the Scale for the Assessment and Rating of Ataxia (SARA).The mean values of these parameters were compared between the groups using the Student’s t-test. Pearson’s coefficient was employed to analyze the correlation between these measures and the SARA score.

Results: RFC1 patients exhibited significant gait alterations,including prolonged gait cycle duration(left,p=0.038),step duration(left,p=0.032),reduced stride length(left,p=0.004; right,p=0.005),increased double support(left,p=0.046),decreased mid-swing lower limb elevation(p<0.001),greater variability in lateral step(right, p=0.008),reduced foot strike (right,p=0.014),toe-off(p<0.001)angles,increased lumbar transverse(p=0.005),trunk sagittal(p=0.012)ranges of motion.Postural sway analysis revealed increased angle RMS (global,p=0.006;coronal,p=0.03;sagittal,p=0.004),acceleration RMS(global,p=0.024;coronal,p=0.023;sagittal,p=0.012),acceleration centroidal frequency

(global,p<0.001;sagittal,p=0.004),acceleration frequency dispersion(coronal,p=0.003),acceleration jerk(global,p=0.036;sagittal,p=0.019).Acceleration mean velocity(global,p=0.003;coronal,p=0.002;sagittal,p=0.006),acceleration path length(global,p=0.013;coronal,p=0.037;sagittal,p=0.006),acceleration range(global,p=0.007;coronal,p=0.033;sagittal,p=0.004)were significantly increased.Functional mobility was impaired,as evidenced by prolonged sit-to-stand duration(p=0.011),altered anticipatory postural adjustments in the first step of motion(p=0.039),increased turn angle (p=0.043)and turn angle 360°(p=0.04).Significant correlations were found between SARA scores and significant parameters in RFC1 patients,including lower limb elevation midswing(left:R=0.56,p=0.036;right:R=0.67,p=0.004),foot strike angle(right:R=-0.53,p=0.033) and toe-off angle(right:R=-0.54,p=0.031).

Conclusion: Wearable sensor-based metrics reveal impairments in RFC1-related ataxia that are potential sensitive biomarkers.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/quantifying-ataxia-in-rfc1-related-disorder-using-wearable-devices/