Brain MRI correlations with disease burden and biomarkers in Fabry disease.

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.

Risk assessment of lacunar infarct associated with oral conditions: A case control study focused on radiographic bone loss and Eichner classification.

PURPOSE: This study aimed to evaluate whether lacunar infarcts can be predicted from occlusal support and periodontal stage on images. METHODS: Seventy patients with lacunar infarcts and 300 participants without lacunar infarcts who underwent cerebral checkups at our university hospital were retrospectively reviewed. Lacunar infarcts were assessed using magnetic resonance images by a neuroradiologist. The number of teeth, occlusal support, and severity of radiographic bone loss (RBL) were evaluated using computed tomography. Occlusal support was classified according to the Eichner classification. Additionally, patient characteristics were investigated using medical charts and blood test reports. Records of clinical periodontal parameters, such as clinical attachment loss and bleeding on probing, were also evaluated. RESULTS: The severity of RBL and Eichner classification in patients with lacunar infarcts was significantly higher than that in individuals without lacunar infarcts (P<.01). Receiver operating characteristic analysis revealed that the cut-off values for predicting lacunar infarct were ≥ III in the severity of RBL and ≥B1 in the Eichner classification. The corresponding areas under the curve were 0.75 and 0.70, respectively. In multivariate analysis, the factors affecting the severity of RBL (≥ III) (odds ratio [OR], 8.1; 95% confidence interval [CI], 4.1-16.3; P<.001), and Eichner classification (≥B1) (OR, 1.9; 95% CI, 0.86-4.1; P<.05) were significantly associated with the occurrence of lacunar infarcts. CONCLUSION: The severity of RBL and the Eichner classification may be helpful in predicting lacunar infarcts. Therefore, proper periodontal treatment and prosthodontic rehabilitation of missing teeth may prevent lacunar infarcts.