Yonsei Med J.  2021 May;62(5):431-438. 10.3349/ymj.2021.62.5.431.

Clinical Features and Brain MRI Findings in Korean Patients with AGel Amyloidosis

Affiliations
  • 1Asan Institute for Life Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
  • 2Department of Medical Science and Asan Medical Institute of Convergence Science and Technology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
  • 3Departments of Radiology, Gangneung Asan Hospital, University of Ulsan College of Medicine, Gangneung, Korea
  • 4Department of Neurology, Rehabilitation Institute of Neuromuscular Disease, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea
  • 5Departments of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
  • 6Departments of Radiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
  • 7Departments of Neurology, Gangneung Asan Hospital, University of Ulsan College of Medicine, Gangneung, Korea

Abstract

Purpose
AGel amyloidosis is systemic amyloidosis caused by pathogenic variants in the GSN gene. In this study, we sought to characterize 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 performed in eight patients and eight age- and sex-matched healthy controls. Therein, we analyzed gray and white matter content using 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. Two patients in their 30s had only mild cutis laxa. The median age at dysarthria onset was 66 (interquartile range: 63.5–70) years. Ophthalmoparesis was observed in three patients. No patient presented with muscle weakness of the limbs. Axial fluid-attenuated inversion recovery images of the brain showed no significant differences between the patient and control groups. Also, analysis of VBM, TBSS, and FreeSurfer revealed no significant differences in cortical thickness between patients and healthy controls at the corrected significance level.
Conclusion
Our study outlines the clinical manifestations of prominent bulbar palsy and early-onset cutis laxa in 13 Korean patients with AGel amyloidosis and confirms that AGel amyloidosis mainly affects the peripheral nervous system rather than the central nervous system.

Keyword

AGel amyloidosis; gelsolin-related amyloidosis; gelsolin; GSN; brain; diffusion tensor imaging
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