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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2010.1
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- 1 - 9 (9page)
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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disorder of the cerebral small blood vessels caused by mutations in the Notch3 gene. The exact prevalence of this disorder was unknown currently, and the number of reported CADASIL families is steadily increasing as the clinical picture and diagnostic examinations are becoming more widely known. The main clinical manifestations are recurrent stroke, migraine, psychiatric symptoms, and progressive cognitive impairment. The clinical course of CADASIL is highly variable, even within families. The involvement of the anterior temporal lobe and the external capsule on brain magnetic resonance imaging was found to have high sensitivity and specificity in differentiating CADASIL from the much more common sporadic cerebral small-vessel disease (SVD). The pathologic hallmark of the disease is the presence of granular osmiophilic material in the walls of affected vessels. CADASIL is a prototype single-gene disorder that has evolved as a unique model for studying the mechanisms underlying cerebral SVD. At present, the incidence and prevalence of CADASIL seem to be underestimated due to limitations in clinical, neuroradiological, and genetic diagnoses of this disorder.
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참고문헌 (25)
참고문헌 신청
Alva JA / 2004 / Notch signaling in vascular morphogenesis / Curr Opin Hematol 11 : 278 ~ 283
Artavanis-Tsakonas S / 1999 / Notch signaling:cell fate control and signal integration in development / Science 284 : 770 ~ 776
Bousser MG / 1994 / Summary of the proceedings of the First International Workshop on CADASIL.Paris,May 19-21,1993 / Stroke 25 : 704 ~ 707
Chabriat H / 1995 / Clinical spectrum of CADASIL:a study of 7 families.Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy / Lancet 34
Dichgans M / 1998 / The phenotypic spectrum of CADASIL:clinical findings in 102 cases / Ann Neurol 44 : 731 ~ 739
Artavanis-Tsakonas S / 1999 / Notch signaling:cell fate control and signal integration in development / Science 284 : 770 ~ 776
Bousser MG / 1994 / Summary of the proceedings of the First International Workshop on CADASIL.Paris,May 19-21,1993 / Stroke 25 : 704 ~ 707
Chabriat H / 1995 / Clinical spectrum of CADASIL:a study of 7 families.Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy / Lancet 34
Dichgans M / 1998 / The phenotypic spectrum of CADASIL:clinical findings in 102 cases / Ann Neurol 44 : 731 ~ 739
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Notch3 gene의 R133C 돌연변이를 보인 CADASIL 1례
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Effects of Lacunar Infarctions on Cognitive Impairment in Patients with Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
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Evolving Concept of Small Vessel Disease through Advanced Brain Imaging
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Prognostic Impact of Cerebral Small Vessel Disease on Stroke Outcome
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History of Migraine and Volume of Brain Infarcts: The Italian Project on Stroke at Young Age (IPSYS)
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