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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한치매학회 Dementia and Neurocognitive Disorders(대한치매학회지) Dementia and Neurocognitive Disorders(대한치매학회지) 제15권 제2호
- 발행연도
- 2016.1
- 수록면
- 52 - 54 (3page)
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BackgroundCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disorder caused by mutations in the NOTCH3 gene, located on chromosome 19p13. NOTCH3 encodes a transmembrane receptor which plays a role in cellular differentiation and cell cycle regulation.
Case ReportA 71-year-old female showing headache and memory impairment, familial history of stroke and having a missense mutation from proline to serine at codon 167 in the exon 4 on NOTCH3 gene. Five family members revealed the same mutation (c.499C>T), who presented migrainous headache and stroke. In this study, we have uncovered a novel NOTCH3 mutation at the nucleotide position 499 (c.499C>T; p.P167S) in a family with CADASIL.
ConclusionsWe suggested a missense mutation of proline to serine at codon 167 in exon 4 of the NOTCH3 gene, which resulted in the substitution of cytosine to thymine (c.499C>T) resulting migraine, stroke and vascular cognitive impairment.
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참고문헌 (8)
참고문헌 신청
Chabriat H / 2009 / Cadasil / Lancet Neurol 8:643~653
Joutel A / 1996 / Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia / Nature 383:707~710
Kim YE / 2014 / Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy / Neurobiol Aging 35:726.e1~726.e6
Pescini F / 2012 / The Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy(CADASIL)Scale : a screening tool to select patients for NOTCH3 gene analysis / Stroke 43:2871~2876
Tomimoto H / 2006 / Small artery dementia in Japan : radiological differences between CADASIL, leukoaraiosis and Binswanger’s disease / Dement Geriatr Cogn Disord 21:162~169
Joutel A / 1996 / Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia / Nature 383:707~710
Kim YE / 2014 / Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy / Neurobiol Aging 35:726.e1~726.e6
Pescini F / 2012 / The Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy(CADASIL)Scale : a screening tool to select patients for NOTCH3 gene analysis / Stroke 43:2871~2876
Tomimoto H / 2006 / Small artery dementia in Japan : radiological differences between CADASIL, leukoaraiosis and Binswanger’s disease / Dement Geriatr Cogn Disord 21:162~169
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