Abstract
OBJECTIVE: Whereas a few studies have evaluated vestibular involvement in Fabry disease (FD), the relationship between vestibular/oculomotor abnormalities and disease-specific biomarkers remain unclear. Therefore, we seek to evaluate these quantitatively and analyze their relationship with disease phenotype and biomarkers in FD. METHODS: This cohort study enrolled 37 Chinese FD patients registered in our center. The vestibular/oculomotor examinations were performed, including the videonystagmography, the caloric test and the video head-impulse test. Statistical analyses were made between different subgroups of patients. RESULTS: Visuo-oculomotor dysfunctions were found in 30/37 (81.1%) patients. Vestibulo-oculomotor dysfunctions were revealed in 9/22 (40.9%) patients. Statistical tests showed: (1) significantly higher Mainz Severity Score Index in patients with prolonged saccade latency [20(18,33) VS 13(9,22), p = 0.008] and vestibulo-oculomotor dysfunction [23(20,31) VS 9(5.5,12.5), p = 0.024], (2) significantly higher total small-vessel disease score in subgroups with prolonged saccade latency [2.5(1,3.5) VS 1(0,2), p = 0.038], defective smooth pursuit [3(2,4) VS 1(0,2), p = 0.003], defective optokinetic nystagmus [4(2,4) VS 1(0.2), p = 0.009] and vestibulo-oculomotor dysfunction [1(1,3) VS 0(0,1), p = 0.028], (3) significantly lower α-Gal A activity (μmol/L/h) in subgroups with defective saccades [0.44(0.25,1.93) VS 1.85(0.75,5.52), p = 0.015] and defective smooth pursuit [0.30(0.17,0.44) VS 0.96(0.39,2.40), p = 0.008], and (4) significantly elevated plasma globotriaosylsphingosine (ng/ml) in patients with defective saccades [74.16(11.05,89.18) VS 10.64(7.08,36.32), p = 0.034], than in patients without those abnormalities. CONCLUSION: A high incidence of extensive vestibular and oculomotor dysfunction was observed in patients with FD, with the neuro-otological dysfunction being closely related to the disease burden and biomarkers like α-Gal A activity and lyso-Gb3.