Journal of the Korean Society of Radiology (대한영상의학회지)

The Korean Society of Radiology (대한영상의학회)
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Neuroimaging Characteristics of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) in Korean Based on Jeju Cohort: A Pictorial Essay

제주 코호트를 바탕으로 한 한국인 CADASIL 환자의 신경영상 특징: 임상화보

  • Yeh Rin Suh (Department of Radiology, Jeju National University Hospital, Jeju National University School of Medicine) ;
  • Ho Kyu Lee (Department of Radiology, Jeju National University Hospital, Jeju National University School of Medicine) ;
  • Kyeong Ho Jung (Department of Radiology, Jeju National University Hospital, Jeju National University School of Medicine) ;
  • Jung Seok Lee (Department of Neurology, Jeju National University Hospital, Jeju National University School of Medicine) ;
  • Jay Chol Choi (Department of Neurology, Jeju National University Hospital, Jeju National University School of Medicine)
  • 서예린 (제주대학교 의과대학 제주대학교병원 영상의학과) ;
  • 이호규 (제주대학교 의과대학 제주대학교병원 영상의학과) ;
  • 정경호 (제주대학교 의과대학 제주대학교병원 영상의학과) ;
  • 이정석 (제주대학교 의과대학 제주대학교병원 신경과) ;
  • 최재철 (제주대학교 의과대학 제주대학교병원 신경과)
  • Received : 2023.01.09
  • Accepted : 2023.03.16
  • Published : 2023.07.01
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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.

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (이하 CADASIL)은 19번 염색체의 NOTCH3 gene의 돌연변이에 의해 발생하는 것으로 알려진 유전성 뇌혈관 질환이다. 제주도는 전 세계적으로 CADASIL의 유병률이 높은 지역으로 알려져 있으나 제주 CADASIL에 대한 통합적인 신경영상 보고는 아직까지 없었다. CADASIL에서 보이는 신경영상의 특징에 대해서는 대부분 서양인 환자를 대상으로 보고되어 왔으며, 한국인의 임상양상과 신경영상의 특징에 대한 보고 역시 드물다. 본 임상화보에서는 제주도 CADASIL 코호트에서 수집한 데이터와 문헌을 바탕으로 한국인의 CADASIL 신경영상의 특성에 대해 고찰해 보고하고자 한다.

Keywords

References

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