Korean J Radiol.
2021 Aug;22(8):1379-1396. 10.3348/kjr.2020.1171.
Rare Neurovascular Diseases in Korea: Classification and Related Genetic Variants
- Affiliations
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- 1Division of Neurointervention Clinic, Department of Radiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
- 2Department of Diagnostic and Interventional Radiology, Imam Abdulrahman Bin Faisal University, King Fahd Hospital of the University, AlKhobar City, Eastern Province, Saudi Arabia
- 3Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
- 4Asan Institute of Life Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
- KMID: 2518721
- DOI: http://doi.org/10.3348/kjr.2020.1171
Abstract
- Rare neurovascular diseases (RNVDs) have not been well-recognized in Korea. They involve the central nervous system and greatly affect the patients’ lives. However, these diseases are difficult to diagnose and treat due to their rarity and incurability. We established a list of RNVDs by referring to the previous literature and databases worldwide to better understand the diseases and their current management status. We categorized 68 RNVDs based on their pathophysiology and clinical manifestations and estimated the prevalence of each disease in Korea. Recent advances in genetic, molecular, and developmental research have enabled further understanding of these RNVDs. Herein, we review each disease, while considering its classification based on updated pathologic mechanisms, and discuss the management status of RNVD in Korea.
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