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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한치매학회 Dementia and Neurocognitive Disorders(대한치매학회지) Dementia and Neurocognitive Disorders(대한치매학회지) 제15권 제1호
- 발행연도
- 2016.1
- 수록면
- 15 - 19 (5page)
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Background and PurposeCerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most-common single gene disorder of cerebral small vessel disease. There is no definite evidence of genotype-phenotype correlation in CADASIL. However, recent studies have shown the unique phenotypic feature of NOTCH3 R544C mutation.
MethodsWe investigated the phenotypic spectrum of NOTCH3 R544C mutation in 73 CADASIL patients in Jeju between April 2012 and January 2014.
ResultsOf the 73 subjects from 60 unrelated families included in this study, 40 (55%) were men. The mean age of the subjects was 62.2± 12.2 (range 34–86 years). Cerebral infarction was the most frequent manifestation (37%), followed by cognitive impairment (32%), headache (17%), psychiatric symptom (16%), intracerebral hemorrhage (12%), transient ischemic attack (7%), and seizure (1%). The mean age of the subjects with ischemic or hemorrhagic episodes was 64.9±10.9 (range 41–86 years). A diagnosis of dementia was made in 12 subjects (16%). The mean age of the subjects with dementia was 75.6±6.5 (range 62–86 years). About 3% of subjects were unable to walk without assistance at assessment. Only one subject had developed chronic headache before the 40s.
ConclusionsOur data support the hypothesis that CADASIL patients with R544C mutation in Jeju have relatively late onset disease.
목차
등록된 정보가 없습니다.
참고문헌 (20)
참고문헌 신청
Joutel A / 1996 / Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia / Nature 383:707~710
Ghosh M / 2015 / Pericytes are involved in the pathogenesis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy / Ann Neurol 78:887~900
Chabriat H / 1995 / Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy / Lancet 346:934~939
Lee JS / 2015 / Clinical significance of cerebral microbleeds locations in CADASIL with R544C NOTCH3mutation / PLoS One 10:e0118163
Liao YC / 2015 / Characterization of CADASIL among the Han Chinese in Taiwan: distinct genotypic and phenotypic profiles / PLoS One 10:e0136501
Ghosh M / 2015 / Pericytes are involved in the pathogenesis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy / Ann Neurol 78:887~900
Chabriat H / 1995 / Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy / Lancet 346:934~939
Lee JS / 2015 / Clinical significance of cerebral microbleeds locations in CADASIL with R544C NOTCH3mutation / PLoS One 10:e0118163
Liao YC / 2015 / Characterization of CADASIL among the Han Chinese in Taiwan: distinct genotypic and phenotypic profiles / PLoS One 10:e0136501
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