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KMID : 0880420210220081379
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Korean Journal of Radiology
2021 Volume.22 No. 8 p.1379 ~ p.1396
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Rare Neurovascular Diseases in Korea: Classification and Related Genetic Variants
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Song Yun-Sun
Kwon Bo-Seong
Al-Abdulwahhab Abdulrahman Hamed
Nam Yeo-Kyoung
Ahn Yu-Ra
Jeong So-Yeong
Seo Eul-Ju
Lee Jong-Keuk
Suh Dae-Chul
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Abstract
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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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KEYWORD
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Neurovascular, Rare diseases, Genetics, Classification, Diagnosis
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