J Med Life Sci > Volume 17(3); 2020 > Article
Journal of Medicine and Life Science 2020;17(3):65-73.
DOI: https://doi.org/10.22730/jmls.2020.17.3.65    Published online December 31, 2020.
제주도에서 CADASIL 연구의 중요성: 역학, 진단 및 임상양상에 대한 고찰
최재철1,2, 이정석1, 김기태3
1제주대학교 의과대학 신경과학 교실
2제주대학교 의과학연구소
3분당서울대학교병원 신경과
Importance of CADASIL research in Jeju: a review and update on epidemiology, diagnosis, and clinical spectrum
Jay Chol Choi1,2, Jung Seok Lee1, Kitae Kim3
1Department of Neurology, Jeju National University Hospital, Jeju, Republic of Korea
2Jeju National University Institue of Medical Science, Jeju, Republic of Korea
3Department of Neurology, Seoul National University Bundang Hospital, Gyeonggi, Republic of Korea
Correspondence:  Kitae Kim, Tel: 82-31-787-7469, Fax: 82-31-787-4056,  Email: kkt88@snu.ac.kr
Received: 22 November 2020   • Revised: 16 December 2020   • Accepted: 17 December 2020
Abstract
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disease of the cerebral small blood vessels caused by mutations in the NOTCH3 gene on chromosome 19. Although CADASIL was known as a rare disease, recent research has suggested that the NOTCH variants could be found frequently even in the general population. The main clinical features included recurrent stroke, migraine, psychiatric symptoms, and progressive cognitive decline. On brain magnetic resonance imaging, patients with CADASIL showed multifocal white matter hyperintensity lesions, lacunar infarcts, microbleeds, and brain atrophy. Among them, lacunar infarcts and brain atrophy are important in predicting the clinical outcomes of patients with CADASIL. In the Jeju National University Hospital, we have diagnosed 213 CADASIL patients from 2004 to 2020. Most NOTCH3 mutations were located in exon 11 (94.4%), and p.Arg544Cys was the most common mutation. The mean age at diagnosis was 61.0±12.8 years. The most common presenting symptoms were ischemic stroke (24.4%), followed by cognitive impairment(15.0%), headache (8.9%), and dizziness(8.0%). Although the exact prevalence of CADASIL in Jeju is still unknown, the disease prevalence could be as high as 1% of the population considering the prevalence reported in Taiwan. Therefore, it is necessary to discover efficient biomarkers and genetic tests that can accurately screen and diagnose patients suspected of having CADASIL in this region. Ultimately, it is urgent to explore the exact pathogenesis of the disease to identify leading substances of treatment potential, and for this, multi-disciplinary research through active support from the Jeju provincial government as well as the national government is essential.
Key Words: CADASIL, NOTCH3, Epidemiology, Ischemic stroke, Vascular dementia, Magnetic resonance imaging, Biomarker
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