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常染色体显性遗传性脑动脉病伴皮层下梗死和白质脑病研究进展 被引量：1

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
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摘要 常染色体显性遗传性脑动脉病伴皮层下梗死和白质脑病(Cerebral autosomal dominantarteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)是一种在成人时发病且以显性方式遗传的小动脉血管病变。它的临床特征主要为反复性的脑皮质下梗死及痴呆症,在少数的患者身上同时可见先兆性偏头痛及精神疾病方面的症状。它的致病基因是NOTCH3。CADASIL是最常见的因为单基因变异所造成的遗传性脑血管病变。该文简单介绍CADASIL的临床症状、分子遗传致病机制、诊断方法、在台湾的现况以及治疗与预防建议。 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy （CADASIL） is an adult-onset, dominantly inherited disorder characterized by recurrent subcortical infarctions, dementia, and less frequently, migraine or psychiatric symptoms. Its causative gene is NOTCH3. CADASIL is the most common monogenetic hereditary cerebral vasculopathy. In this review, we will briefly introduce the clinical manifestations, molecular pathomechanism, diagnostic strategies, and suggestions of the management of CADASIL. The characteristic of CADASIL in Taiwan will be also introduced.
作者 李宜中 宋秉文 翁文章
机构地区 台北荣民总医院神经医学中心神经内科
出处 《中国卒中杂志》 2010年第7期573-578,共6页 Chinese Journal of Stroke
关键词 CADASIL 脑动脉疾病 NOTCH3 CADASIL Cerebral arterial diseases NOTCH3
分类号 R743.33 [医药卫生—神经病学与精神病学]
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参考文献37

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  • 2Chabriat H, Vahedi K, Bousser MG, et al. Clinical spectrum of CADASIL:a study of 7 families[J]. Lancet, 1995, 346:934-939.
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同被引文献24

  • 1刘莹,张微微,朱光明.伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病患者脑小动脉的病理学研究[J].中国脑血管病杂志,2005,2(4):150-152. 被引量：4
  • 2Chabriat H, Joutel A, Diehgans V, et al. CADASIL[ J ]. Lancet Neu- ro1,2009,8 ( 7 ) :643 - 653.
  • 3Watanabe M,Adachi Y,Jackson M,et al. An unusual case of elderly-on- set cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(CADASIL) with multiple cerebrovascular risk fac- tors [J]. J Stroke and Cerebrovascular Dis ,2012,2l (2) : 143 - 145.
  • 4Brennan-Krohn T, Salloway S, Correia S, et al. Glial vascular degener- ation in CADASIL[ J ]. J Alzheimers Dis,2010,21 : 1393 - 1402.
  • 5Malandrini A, Gaudiano C, Gambelli S, et al. Diagnostic value of ul- trastructral skin biopsy studies in CADASIL[ J ]. Neurology,2007,68 (17) :1430 - 1432,.
  • 6Tikka S, Mykkanen K, Ruchoux MM, et al. Congruence between Notch3 mutations and GOM in 131 CADASIL patients [ J ]. Brain, 2009 132(d.').933-999.
  • 7Wang Z, Yuan Y, Zhang W, et al. NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL[ J]. J Neu- rosurg Psychiatry,2011,82:534 - 539.
  • 8Agostoni E, Rigamonti A. Migraine and small vessel diseases [ J ]. Neurol Sci ,2012,33 ( 1 ) :51 - 54.
  • 9Adib SP, Brice G, Manrin R J, et al. Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype : study in 200 consecutively recmited individuaIs[ J ]. Stroke ,2010,41:630 - 634.
  • 10Valenti R, Poggesi A, Pescini F, et al. Psychiatric disturbances in CA- DASIL : a brief review [ J ]. Acta Neurol Scand ,2008,118:291 - 295.

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中国卒中杂志
2010年 第7期

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