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伴有听力下降的CADASIL一家系报告及文献复习 被引量：2

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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（cerebral autosomal dominant arteriopathywith subcorticalin—farcts and leukoencephalopathy，CADASIL）是一种家族遗传性非动脉硬化性、非淀粉样变脑血管病。
作者 马舒贝 王苏平 王晓虹
机构地区 大连市中心医院神经内科
出处 《中风与神经疾病杂志》 CAS CSCD 北大核心 2013年第12期1123-1124,共2页 Journal of Apoplexy and Nervous Diseases
关键词 CADASIL 一家系报告 常染色体显性遗传性脑动脉病 文献复习 听力下降 皮质下梗死 动脉硬化性 家族遗传性
分类号 R742 [医药卫生—神经病学与精神病学]
  • 相关文献

参考文献19

  • 1Roy B, Maksemous N, Smith RA, et al. Two novel mutations and a previ- ously unreported intronic polymorphism in the NOTCH3 gene[ J]. Mutat Res,2012,732( 1 N2) :3 -8.
  • 2Dichgans M. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy:phenotypic and mutational spectrum [ J]. J Neurol Sci ,2002,204:77 - 80.
  • 3Herve D,Chabriat H. Cadasil [ J ]. J Geriatr Psychiatry Neurol, 2010, 23(4) :269 -276.
  • 4Sabbadini G, Francia A, Calandriello L, et al. Cerebral autosomal domi- nant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) clinical, neuroimaging, pathological and genetic study of a large Italian family[J]. Brain,1995,118(Pt 1) :207 -215.
  • 5Joutel A, Corpechot C, Ducros A , et al. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia[ J ]. Nature,1996,383(6602) :707 -710.
  • 6Joutel A, Vahedi K, Corpechot C,et al. Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients [ J ]. Lancet, 1997,350 (9090) :1511 -1515.
  • 7Joutel A ,Tournier-Lasserve E. Notch signalling pathway and human diseases[J]. Semin Cell Dev Biol,1998,(6) :619-625.
  • 8Sano Y, Shimizu F, Kawai M, et al. Arg332Cys mutation of NOTCH3 gene in two unrelated Japanese families with CADASIL [ J ]. Intern Med,2011,50(22) :2833 -2838.
  • 9van den Boom R, Lesnik Oberstein SA, Ferrari MD, et al. Cerebral auto- somal dominant arteriopathy with subcortical infarcts and leukoencepha-lopathy : MR imaging findings at different ages-3rd45th decades[ J ]. Ra- diology,2003,229 (3) :683 - 690.
  • 10Chabriat H, Joutel A, Dichgans M, et al. CADASIL[ J ]. Lancet Neurol, 2009,8(7) :643 -653.

二级参考文献68

  • 1王朝霞,吕鹤,张英,卜定方,牛小媛,张茁,黄一宁,袁云.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四个家系的NOTCH3基因突变研究[J].中华医学杂志,2004,84(14):1175-1180. 被引量：9
  • 2张巍,吕鹤,王朝霞,牛小媛,袁云.5个CADASIL家族的核磁共振改变特点[J].中风与神经疾病杂志,2005,22(2):135-137. 被引量：15
  • 3Bogaert V. Encephalopathie sous-corticale progressive(Binswanger) a evolution rapid chez deux soeurs[J]. Med Hellen, 1955, 24:961-972.
  • 4Sourander P, W?linder J. Hereditary multi-infarct dementia. Morphological and clinical studies of a new disease[J]. Acta Neuropathol, 1977, 39:247-254.
  • 5Tournier-Lasserve E, Joutel A, Melki J, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12[J]. Nat Genet, 1993, 3:256-259.
  • 6Joutel A, Corpechot C, Ducros A, et al. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia[J]. Nature, 1996, 383:707-710.
  • 7Joutel A, Vahedi K, Corpechot C, et al. Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients[J]. Lancet, 1997, 350:1511-1515.
  • 8Razvi 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]. J Neurol Neurosurg Psychiatry, 2005, 76:739-741.
  • 9Chabriat H, Joutel A, Dichgans M, et al. Cadasil[J]. Lancet Neurol, 2009, 8:643-653.
  • 10Dichgans M, Mayer M, Uttner I, et al. The phenotypicspectrum of CADASIL:clinical findings in 102 cases[J]. Ann Neurol, 1998, 44:731-739.

共引文献34

同被引文献26

  • 1王维治.神经病学.2版.北京:人民卫生出版社,2013,809.
  • 2Sourander P, Wailinder J. Hereditary multi-infarct dementia. Morphological and clinical studies of a new disease [J]. Acta Neuropathol, 1977, 39(3): 247-254.
  • 3Weiming F, Yuliang W, Youjie L, et al. A novel Notch3 deletion mutation in a Chinese patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)[J]. J Clin Neurosci, 2013, 20(2): 322-323.
  • 4Tan ZX, Li FF, Qu YY, et al. Identification of a known mutation in Notch 3 in familiar CADASIL in China[J]. PLoS One, 2012, 7:e36590.
  • 5Wang Z, Yuan Y, Zhang W, et al. NOTCH3 mutations and clinical featres in 33 mainland Chinese families with CADASIL [J]. J Neurol Neurosurg Psychiatry, 2011, 82: 534-539.
  • 6Wang ZX, Yuan Y, Zhang W, et al. NOTCH3 mutations and clinical features in 33 mainland and Chinese families with CADASIL [J]. J Neurol Neurosurg Psychiatry, 2010, 82 (5): 534-539.
  • 7Avila A, Bello J, Maho P, et al. A new Spanish family with CADASIL associated with 346C>T mutation of NOTCH3 gene[J]. Neurologia, 2007, 22(7): 484-487.
  • 8Brerman-Krohn T, Salloway S, Correia S, et al. Glial vascular degeneration in CADASIL [J]. J Alzheimers Dis, 2010, 21 (4): 1393-1402.
  • 9Shiga A, Nozaki H, Nishzawa M, et al. Molecular pathogenesis of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy[J]. Brain Nerve, 2010, 62(6): 595-599.
  • 10Krsmanovi c Z, Dinci c E, Kosti c S. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy [J]. Vojnosanit Pregl, 2011, 68(5): 455-459.

引证文献2

中风与神经疾病杂志
2013年 第12期

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