J Korean Soc Radiol.
2023 Jul;84(4):855-865. 10.3348/jksr.2023.0004.
Neuroimaging Characteristics of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) in Korean Based on Jeju Cohort: A Pictorial Essay
- Affiliations
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- 1Department of Radiology, Jeju National University Hospital, Jeju National University School of Medicine, Jeju, Korea
- 2Department of Neurology, Jeju National University Hospital, Jeju National University School of Medicine, Jeju, Korea
- KMID: 2545031
- DOI: http://doi.org/10.3348/jksr.2023.0004
Abstract
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary small artery vasculopathy caused by mutations in the NOTCH3 gene on chromosome 19. Jeju Island has the highest reported prevalence of CADASIL patients in the world. Even though most studies on the neuroimaging characteristics of CADASIL have focused on Western populations, there are notable differences in Korean CADASIL patients compared to those in Western countries, which may impact their clinical manifestations and prognosis. Herein, this pictorial essay presents the neuroimaging patterns of CADASIL in patients in Korea, with an emphasis on the differences observed from previous reports based on a Western patient population.
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