R544C 돌연변이를 가지는 90세 이상 카다실 환자들의 임상적 특성
Clinical Characteristics of Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Patients with R544C Mutation Aged 90 or Older
고근혁, 이정석,
소속 상세정보
고근혁 ( Ko Keun-Hyuk )
제주대학교 의학전문대학원 신경과학교실
이정석 ( Lee Jung-Seok )
제주대학교 의학전문대학원 신경과학교실
Abstract
Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy is an inherited small vessel diseases caused by mutations in the Notch3 gene. In Caucasian patients, the average life expectancy was 65 years for men and 71 years for women. However, this does not seem to be the case in patient with R544C mutation, which is a rare mutation in Caucasian patients. Herein we report two patients with R544C mutation who were older than 90 years who were not previously reported.
키워드
CADASIL; R544C mutation
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