The vestibular and oculomotor dysfunction in Fabry disease: a cohort study in China
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 ph...
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Taylor & Francis Group
2025-12-01
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| Series: | Annals of Medicine |
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| Online Access: | https://www.tandfonline.com/doi/10.1080/07853890.2025.2453626 |
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| author | Yinglin Leng Yawen Zhao Hong Zhou Xia Ling Xia Wang Guiping Zhao Wei Zhang |
| author_facet | Yinglin Leng Yawen Zhao Hong Zhou Xia Ling Xia Wang Guiping Zhao Wei Zhang |
| author_sort | Yinglin Leng |
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| description | 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. |
| format | Article |
| id | doaj-art-841dba24f01245d8b9eeb7557c4f5382 |
| institution | Kabale University |
| issn | 0785-3890 1365-2060 |
| language | English |
| publishDate | 2025-12-01 |
| publisher | Taylor & Francis Group |
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| spelling | doaj-art-841dba24f01245d8b9eeb7557c4f53822025-01-25T12:27:08ZengTaylor & Francis GroupAnnals of Medicine0785-38901365-20602025-12-0157110.1080/07853890.2025.2453626The vestibular and oculomotor dysfunction in Fabry disease: a cohort study in ChinaYinglin Leng0Yawen Zhao1Hong Zhou2Xia Ling3Xia Wang4Guiping Zhao5Wei Zhang6Department of Neurology, Peking University First Hospital, ChinaDepartment of Neurology, Peking University First Hospital, ChinaDepartment of Neurology, Peking University First Hospital, ChinaDepartment of Neurology, Peking University First Hospital, ChinaDepartment of Neurology, Peking University First Hospital, ChinaDepartment of Neurology, Peking University First Hospital, ChinaDepartment of Neurology, Peking University First Hospital, ChinaObjective 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.https://www.tandfonline.com/doi/10.1080/07853890.2025.2453626Fabry diseasevestibular disorderseye movementcerebral small vessel diseasemainz severity score indexglobotriaosylsphingosine |
| spellingShingle | Yinglin Leng Yawen Zhao Hong Zhou Xia Ling Xia Wang Guiping Zhao Wei Zhang The vestibular and oculomotor dysfunction in Fabry disease: a cohort study in China Annals of Medicine Fabry disease vestibular disorders eye movement cerebral small vessel disease mainz severity score index globotriaosylsphingosine |
| title | The vestibular and oculomotor dysfunction in Fabry disease: a cohort study in China |
| title_full | The vestibular and oculomotor dysfunction in Fabry disease: a cohort study in China |
| title_fullStr | The vestibular and oculomotor dysfunction in Fabry disease: a cohort study in China |
| title_full_unstemmed | The vestibular and oculomotor dysfunction in Fabry disease: a cohort study in China |
| title_short | The vestibular and oculomotor dysfunction in Fabry disease: a cohort study in China |
| title_sort | vestibular and oculomotor dysfunction in fabry disease a cohort study in china |
| topic | Fabry disease vestibular disorders eye movement cerebral small vessel disease mainz severity score index globotriaosylsphingosine |
| url | https://www.tandfonline.com/doi/10.1080/07853890.2025.2453626 |
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