Balance control impairments in Fabry disease

Peultier-Celli, Laetitia; Jaussaud, R.; Kaminsky, P.; Deibener-Kaminsky, Joëlle; Feillet, François; Perrin, Philippe

doi:10.3389/fneur.2022.856946

Cited by 4 publications

(2 citation statements)

References 31 publications

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“…The onset age of first stroke was around 40 years, which is in accordance with the average onset age in the Fabry Registry [ 19 ]. Aside from stroke episodes, we also confirmed nonspecific headache, dizziness, and neuropsychiatric dysfunction in approximately half of all patients, similar to a previous report [ 20 ]. Ear abnormalities, including hearing loss, tinnitus, and vertigo, are frequently noted in patients with Fabry disease, and hearing loss is correlated with vascular damage and neuropathy [ 21 ].…”

Section: Discussionsupporting

confidence: 91%

Brain MRI correlations with disease burden and biomarkers in Fabry disease

Zhao,

Zhu,

et al. 2023

J Neurol

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Objective To quantitatively evaluate cerebral small vessel disease (CSVD) in brain magnetic resonance imaging (MRI) and its correlation with disease burden and markers in Fabry disease, a rare X-linked lysosomal storage disease. Methods We collected brain MRI data from seventy-one Chinese patients with Fabry disease. CSVD was evaluated using an age-related white matter change rating scale, Fazekas scale, enlarged perivascular spaces grading scale, lacunar infarction scale, Microbleed Anatomical Rating Scale, global cortical atrophy scale, and small-vessel disease score. Factors associated with MRI lesions, including sex, clinical subtype, disease severity, disease burden, genotype, and biomarkers, were also analyzed. Results Of 71 patients, 16 (22.5%) experienced ischemic stroke. The incidences of lacunar infarctions, white matter hyperintensities, and cerebral microbleeds were 55%, 62%, and 33%, respectively. The abnormal MRI group had later disease onset, longer disease duration, and a higher Mainz Severity Score Index (p < 0.05) than the normal MRI group. Patients with more severe clinical phenotypes also had higher CVSD-related scores. Sex and GLA mutational type were not closely associated with brain MRI lesions. Of the disease markers, the Mainz Severity Score Index and plasma globotriaosylsphingosine (Lyso-Gb3) were closely correlated with the majority of the MRI scores, whereas α-galactosidase A activity was not. Conclusion Brain MRI revealed progressive lacunar infarctions, white matter hyperintensities, and decreased brain volume in patients with Fabry disease. Brain MRI lesions were closely related to onset-age; disease duration, severity, burden; and plasma Lyso-Gb3. However, they were not associated with sex, α-galactosidase A activity, or GLA mutation type.

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Section: Discussionsupporting

confidence: 91%

Brain MRI correlations with disease burden and biomarkers in Fabry disease

Zhao,

Zhu,

et al. 2023

J Neurol

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“…Progressive deterioration of vestibular function is also reported, affecting 80% of men and 77% of women when assessed with head impulse testing [ 16 ]. Moreover, the vestibular function loss may lead to ambulatory instability or a fall because of poor postural control [ 20 ].…”

Section: Discussionmentioning

confidence: 99%

Increased prevalence of peripheral vestibular disorder among patients with Fabry disease

Yang,

Xirasagar,

Cheng

et al. 2024

Orphanet J Rare Dis

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Background Although peripheral vestibular disorder is a non-fatal complication of Fabry disease, fatalities have been reported in some case reports and case series. To date, no studies have examined the relative risk of peripheral vestibular disorder in patients with Fabry disease compared to the general population without the condition. Due to the high prevalence of Fabry disease in East Asia and the potential shared pathogenic pathways between Fabry disease and vasculopathy, we conducted a study using a nationwide population-based dataset to compare the prevalence of peripheral vestibular disorder between patients with Fabry disease and matched comparison patients. Methods Data was sourced from Taiwan’s Longitudinal Health Insurance Database 2010. this study consists of 11,668 sampled patients, 2917 study patients with Fabry disease and 8751 propensity-score-matching comparison patients. We conducted multiple logistic regression analysis to study the association between peripheral vestibular disorder and Fabry disease. Results The study identified notable differences in the prevalence of various vestibular disorders between the study and comparison groups. Specifically, there was a 7.2% increased prevalence of peripheral vestibular disorder in the study group (28.3%) compared to the comparison group (20.9%), Meniere’s disease (5.4% vs. 3.7%), benign paroxysmal positional vertigo (5.1% vs. 3.3%), and other/ unspecified peripheral vestibular dizziness (15.6% vs. 11.8%) (all p < 0.001). The odds ratios for PVD, MD, BPPV, and other PVD were 1.44 (95% CI = 1.29–1.60), 1.50 (95% CI = 1.23–1.83), 1.59 (95% CI = 1.30–1.95), and 1.40 (95% CI = 1.24–1.58), respectively, among the Fabry disease group relative to the comparison group after adjusting for age, monthly income, geographic location, urbanization level, hyperlipidemia, diabetes, coronary heart disease, and hypertension. Conclusion This study found that patients with Fabry disease had increased prevalence of peripheral vestibular disorder.

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Abstracts of the 2023 Padua Days of Muscle and Mobility Medicine (2023Pdm3) to be held March 29 - April 1 at the Galileian Academy of Padua and at the Petrarca Hotel, Thermae of Euganean Hills, Padua, Italy

et al. 2023

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At the end of the 2022 Padua Days of Muscle and Mobility Medicine (Pdm3) the next year's meeting was scheduled from 29 March to 1 April 2023. Despite the worsening evolution of the crisis in Eastern Europe, the program was confirmed in autumn 2022 with Scientific Sessions that will take place over three full days in the Aula Guariento of the Galileian Academy of Arts, Letters and Sciences of Padua (March 29, 2023) and then at the Conference Room of the Hotel Petrarca, Thermae of Euganean Hills (Padua), Italy. Collected during autumn and early winter, many titles and abstracts where submitted (about 100 Oral presentations are listed in the preliminary Program by January 31, 2023) confirming attractiveness of the 2023 Pdm3. The four days will include oral presentations of scientists and clinicians from Austria, Bulgaria, Canada, Denmark, France, Georgia, Germany, Iceland, Ireland, Italy, Mongolia, Norway, Russia, Slovakia, Slovenia, Spain, Switzerland, The Netherlands and USA. Together with the preliminary Program at January 31, 2023, the Collection of Abstracts is e-published in this Issue 33 (1) 2023 of the European Journal of Translational Myology (EJTM). You are invited to join, submitting your Last Minute Abstracts to ugo.carraro@unipd.it by March 15, 2023. Furthermore, with the more generous deadline of May 20, 2023, submit please “Communications” to the European Journal of Translational Myology (SCOPUS Cite Score Tracker 2023: 3.2 by January 5, 2023) and/or to the 2023 Special Issue: “Pdm3” of the Journal Diagnostics, MDPI, Basel (I.F. near to 4.0) with deadline September 30, 2023. Both journals will provide discounts to the first accepted typescripts. See you soon at the Hotel Petrarca of Montegrotto Terme, Padua, Italy. For a promo of the 2023 Pdm3 link to: https://www.youtube.com/watch?v=zC02D4uPWRg

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Balance control impairments in Fabry disease

Cited by 4 publications

References 31 publications

Brain MRI correlations with disease burden and biomarkers in Fabry disease

Brain MRI correlations with disease burden and biomarkers in Fabry disease

Increased prevalence of peripheral vestibular disorder among patients with Fabry disease

Abstracts of the 2023 Padua Days of Muscle and Mobility Medicine (2023Pdm3) to be held March 29 - April 1 at the Galileian Academy of Padua and at the Petrarca Hotel, Thermae of Euganean Hills, Padua, Italy

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