R544C 돌연변이를 가지는 90세 이상 카다실 환자들의임상적 특성
Clinical Characteristics of Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Patients with R544C Mutation Aged 90 or Older
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초록
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.
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.
참고문헌 (10)
- Chabriat H, "Cadasil", Lancet Neurol, 8, pp.643~653 (2009)
- Opherk C, "Long-term prognosis and causes of death in CADASIL : a retrospective study in 411 patients", Brain, 127, pp.2533~2539 (2004)
- Liu X, "The genetic spectrum and the evaluation of CADASIL screening scale in Chinese patients with NOTCH3 mutations", J Neurol Sci, 354, pp.63~69 (2015)
- Ueda A, "Genotypic and phenotypic spectrum of CADASIL in Japan : the experience at a referral center in Kumamoto University from 1997 to 2014", J Neurol, 262, pp.1828~1836 (2015)
- Liao YC, "Characterization of CADASIL among the Han Chinese in Taiwan : distinct genotypic and phenotypic profiles", PLoS One, 10, pp.e0136501~ (2015)
- 이정석, "카다실 환자에서 뇌졸중발생 유무에 따른 임상증상과 뇌자기공명영상소견의 차이", 대한신경과학회지, 30(2), pp.93~99 (2012), 대한신경과학회[DOI]
- Lee JS, "Cerebral microbleeds, hypertension, and intracerebral hemorrhage in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy", Front Neurol, 8, pp.203~ (2017)
- Mukai M, "A Japanese CADASIL patient with homozygous NOTCH3 p.Arg544Cys mutation confirmed pathologically", J Neurol Sci, 394, pp.38~40 (2018)
- Bianchi S, "CADASIL in central Italy : a retrospective clinical and genetic study in 229 patients", J Neurol, 262, pp.134~141 (2015)
- 이정석, "Phenotypic Features of Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Subjects with R544C Mutation", Dementia and Neurocognitive Disorders(대한치매학회지), 15(1), pp.15~19 (2016), 대한치매학회[DOI]