Clinical Features and Brain MRI Findings in Korean Patients with AGel Amyloidosis
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Purpose: AGel amyloidosis is systemic amyloidosis caused by pathogenic variants in the GSN gene. In this study, we sought tocharacterize the clinical and brain magnetic resonance image (MRI) features of Korean patients with AGel amyloidosis. Materials and Methods: We examined 13 patients with AGel amyloidosis from three unrelated families. Brain MRIs were performedin eight patients and eight age- and sex-matched healthy controls. Therein, we analyzed gray and white matter contentusing voxel-based morphometry (VBM), tract-based spatial statistics (TBSS), and FreeSurfer. Results: The median age at examination was 73 (interquartile range: 64–76) years. The median age at onset of cutis laxa was 20(interquartile range: 15–30) years. All patients over that age of 60 years had dysarthria, cutis laxa, dysphagia, and facial palsy. Twopatients in their 30s had only mild cutis laxa. The median age at dysarthria onset was 66 (interquartile range: 63.5–70) years. Ophthalmoparesiswas observed in three patients. No patient presented with muscle weakness of the limbs. Axial fluid-attenuated inversionrecovery images of the brain showed no significant differences between the patient and control groups. Also, analysis ofVBM, TBSS, and FreeSurfer revealed no significant differences in cortical thickness between patients and healthy controls at thecorrected significance level. Conclusion: Our study outlines the clinical manifestations of prominent bulbar palsy and early-onset cutis laxa in 13 Korean patientswith AGel amyloidosis and confirms that AGel amyloidosis mainly affects the peripheral nervous system rather than thecentral nervous system.
Abstract
Purpose: AGel amyloidosis is systemic amyloidosis caused by pathogenic variants in the GSN gene. In this study, we sought tocharacterize the clinical and brain magnetic resonance image (MRI) features of Korean patients with AGel amyloidosis. Materials and Methods: We examined 13 patients with AGel amyloidosis from three unrelated families. Brain MRIs were performedin eight patients and eight age- and sex-matched healthy controls. Therein, we analyzed gray and white matter contentusing voxel-based morphometry (VBM), tract-based spatial statistics (TBSS), and FreeSurfer. Results: The median age at examination was 73 (interquartile range: 64–76) years. The median age at onset of cutis laxa was 20(interquartile range: 15–30) years. All patients over that age of 60 years had dysarthria, cutis laxa, dysphagia, and facial palsy. Twopatients in their 30s had only mild cutis laxa. The median age at dysarthria onset was 66 (interquartile range: 63.5–70) years. Ophthalmoparesiswas observed in three patients. No patient presented with muscle weakness of the limbs. Axial fluid-attenuated inversionrecovery images of the brain showed no significant differences between the patient and control groups. Also, analysis ofVBM, TBSS, and FreeSurfer revealed no significant differences in cortical thickness between patients and healthy controls at thecorrected significance level. Conclusion: Our study outlines the clinical manifestations of prominent bulbar palsy and early-onset cutis laxa in 13 Korean patientswith AGel amyloidosis and confirms that AGel amyloidosis mainly affects the peripheral nervous system rather than thecentral nervous system.
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