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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的研究进展 被引量：1

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摘要 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（CADASIL）是一种成年发病的遗传性动脉疾病，病变基因定位于第19号染色体上的Notch3基因。迄今为止，全世界已经报道该病的400多个家系，国内陆续报道20多个家系。我们就该病的临床影像学、神经病理和分子遗传学研究进展综述如下。
作者 陈璇 杨期东
机构地区 中南大学湘雅医院神经内科
出处 《中华神经科杂志》 CAS CSCD 北大核心 2009年第2期133-135,共3页 Chinese Journal of Neurology
关键词 常染色体显性遗传性脑动脉病 皮质下梗死 白质脑病 NOTCH3基因 9号染色体 临床影像学 分子遗传学 动脉疾病
分类号 R686 [医药卫生—骨科学]
  • 相关文献

参考文献22

  • 1Razvi SS, Davidson R, Bone I, et al. The prevalence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) in the west of Scotland. J Neural Neurosurg Psychiatry, 2005,76 : 739 -741.
  • 2Okumura K, Tsuru T, Aizaki K, et al. A case of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), diagnosed in the age of puberty. No To Hattatsu, 2007,39:49-53.
  • 3刘旸,吴元,谢晟,孙冰莲,栾兴华,王薇薇,黄一宁,袁云.常染色体显性遗传性脑动脉病伴皮质下梗死和白质脑病的临床特征及其与头颅磁共振改变的关系[J].中华神经科杂志,2008,41(3):172-175. 被引量：4
  • 4刘尊敬,杨期东,刘运海,黄青,刘卫平,游咏,张岳峰,汤青平.伴有皮层下梗死和白质脑病的常染色体显性遗传脑动脉病一家系[J].中华医学遗传学杂志,2006,23(1):116-116. 被引量：3
  • 5Kim Y, Choi EJ , Choi CG, et al. Characteristics of CADASIL in Korea: a novel cysteine-sparing Notch3 mutation. Neurology, 2006,66 : 1511-1516.
  • 6Kusaba T, Hatta T, Kimura T, et al. Renal involvement in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Clin Nephrol, 2007,67 : 182-187.
  • 7Rufa A, Guideri F, Acampa M, et al. Cardiac autonomic nervous system and risk of arrhythmias in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Stroke, 2007,38:276-280.
  • 8Opherk C, Peters N, Herzog J, et al. Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients. Brain, 2004,127:2533-2539.
  • 9Peters N, Herzog J, Opherk C,et al. A two-year clinical follow-up study in 80 CADASIL subjects: progression patterns and implications for clinical trials. Stroke, 2004, 35: 1603-1608.
  • 10Viswanathan A, Gschwendtner A, Guichard JP, et al. Lacunar lesions are independently associated with disability and cognitive impairment in CADASIL. Neurology, 2007, 69: 172-179.

二级参考文献29

共引文献27

同被引文献10

  • 1H Chabriat A,Joutel M,Dichgans E,et al.CADASIL.Lancet Neurol,2009,8(7):643-653.
  • 2Malandrini A,Gandiano C,GambeUi S,et al.Diagnostic value of ultrastructural skin biopsy studies in CADASIL.Neurology,2007,68(17):1430-1432.
  • 3van den Boom R,Lesnik Oberstein SA,Ferrari MD,et al.Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy:MR imaging findings at different ages-3rd-6th decades.Radiology,2003,229(3):683-690.
  • 4Dichgans M,Holtmannspotter M,Herzog J,et al.Cerebral microbleeds in CADASIL-A gradient-echo magnetic resonance imaging and autopsy study.Stroke,2002,33(1):67-71.
  • 5Viswanathan A,Guichard JP,Gschwendtner A,et al.Blood pressure and haemoglobin A1c are associated with mircrohaemorrha-ge in CADASIL:a two-centre cohort study.Brain,2006,129 (9):2375 -2383.
  • 6Werbrouck BF,De Bleecker JL.Intracerebral haemorrhage in CADASIL.A case report.Acta neurol Belg,2006,106(4):219-221.
  • 7Oh JH,Lee JS,Kang SY,et al.Aspirin-associated intracerebral hemorrhage in a patient with CADASIL.Clin neurol neurosurg,2008,110(4):384-386.
  • 8Ragoschke-Schumm A,Axer H,Witte OW,et al.Intracerebral haemorrhage in CADASIL.J Neurol Neurosurg Psychiatry,2005,76(11):1606-1607.
  • 9Hassan A,Markus HS.Genetics and ischemic stroke1.Brain,2000,123 (9):1784-1812.
  • 10Choi JC,Kang SY,Kang JH,et al.Intracerebral hemorrhages in CADASIL.Neurology,2006,67(11):2042-2044.

引证文献1

二级引证文献10

中华神经科杂志
2009年 第2期

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