Rare Neurovascular Diseases in Korea: Classification and Related Genetic Variants

Overview

Journal Korean J Radiol

Specialty Radiology

Date 2021 May 28

PMID 34047503

Citations 5

Authors

Yunsun Song

Boseong Kwon

Abdulrahman Hamed Al-Abdulwahhab

Yeo Kyoung Nam

Yura Ahn

So Yeong Jeong

Eul Ju Seo

Jong Keuk Lee

Dae Chul Suh

Affiliations

Soon will be listed here.

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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