Rare Neurovascular Diseases in Korea: Classification and Related Genetic Variants

Author: Yunsun SONG ¹ ; Boseong KWON ; Abdulrahman Hamed AL-ABDULWAHHAB ; Yeo Kyoung NAM ; Yura AHN ; So Yeong JEONG ; Eul-Ju SEO ; Jong-Keuk LEE ; Dae Chul SUH
Author Information

1. Division of Neurointervention Clinic, Department of Radiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
Publication Type:Review Article
From:Korean Journal of Radiology 2021;22(8):1379-1396
CountryRepublic of Korea
Language:English
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.