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

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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.
Author(s)
김현진박형준백우열심우현임영민정인애최영철
Issued Date
2021
Type
Article
Keyword
AGel amyloidosisgelsolin-related amyloidosisgelsolinGSNbraindiffusion tensor imaging
DOI
10.3349/ymj.2021.62.5.431
URI
https://oak.ulsan.ac.kr/handle/2021.oak/7623
https://ulsan-primo.hosted.exlibrisgroup.com/primo-explore/fulldisplay?docid=TN_cdi_nrf_kci_oai_kci_go_kr_ARTI_9776272&context=PC&vid=ULSAN&lang=ko_KR&search_scope=default_scope&adaptor=primo_central_multiple_fe&tab=default_tab&query=any,contains,Clinical%20Features%20and%20Brain%20MRI%20Findings%20in%20Korean%20Patients%20with%20AGel%20Amyloidosis&offset=0&pcAvailability=true
Publisher
YONSEI MEDICAL JOURNAL
Location
대한민국
Language
영어
ISSN
0513-5796
Citation Volume
62
Citation Number
5
Citation Start Page
431
Citation End Page
438
Appears in Collections:
Medicine > Medicine
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