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致死性家族性失眠症一例 被引量：5

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摘要 致死性家族性失眠症（fatal familial insomnia，FFI）是一种以失眠为主要临床特征的朊蛋白病，在国内于2005年首次报道1例本病，此为第2例报道。
作者 袁怀武 姜亚平
机构地区 华中科技大学同济医学院附属同济医院神经内科
出处 《中华神经科杂志》 CAS CSCD 北大核心 2007年第5期317-317,共1页 Chinese Journal of Neurology
关键词 致死性家族性失眠症 朊蛋白病 临床特征 国内
分类号 R740 [医药卫生—神经病学与精神病学]
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二级参考文献14

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  • 2Tabernero C, Polo JM, Sevillano MD, et al. Fatal familial insomnia: clinical, neuropathological, and genetic description of a Spanish family. J Neurol Neurosurg Psychiatry, 2000, 68: 774-777.
  • 3Gambetti P, Parchi P, Chen SG. Hereditary Creutzfeldt-Jakob disease and fatal familial insomnia. Clin Lab Med, 2003, 23: 43-64.
  • 4Montagna P, Gambetti P, Cortelli P, et al. Familial and sporadic fatal insomnia. Lancet Neurol, 2003, 2: 167-176.
  • 5Goldfarb LG, Petersen RB, Tabaton M, et al. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. Science, 1992, 258: 806-808.
  • 6Almer G, Hainfellner JA, Brucke T, et al. Fatal familial insomnia: a new Austrian family. Brain, 1999, 122: 5-16.
  • 7Murai H. Fatal familial insomnia. Nippon Rinsho, 2004, 62 Suppl: 271-273.
  • 8Taniwaki Y, Hara H, Doh-Ura K, et al. Familial Creutzfeldt-Jakob disease with D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia. J Neurol Neurosurg Psychiatry, 2000, 68: 388.
  • 9Kawasaki K, Wakabayashi K, Kawakami A, et al. Thalamic form of Creutzfeldt-Jakob disease or fatal insomnia? Report of a sporadic case with normal prion protein genotype. Acta Neuropathol(Berl), 1997, 93: 317-322.
  • 10Spacey SD, Pastore M, McGillivray B, et al. Fatal familial insomnia: the first account in a family of Chinese descent. Arch Neurol, 2004,61: 122-125.

共引文献14

同被引文献80

  • 1张敏,梅元武,魏桂荣,袁光雷,俞水亮,肖庚富.致死性家族性失眠症一例临床及基因特征[J].中华神经科杂志,2005,38(10):628-631. 被引量：15
  • 2袁怀武,姜亚平.致死性家族性失眠症的睡眠障碍、发病机制和基因突变[J].中国神经免疫学和神经病学杂志,2007,14(2):115-117. 被引量：3
  • 3Lugaresi E, Medori R, Montagna P, et al. Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei [J]. N Engl J Med,1986,315(16) :997 -1003.
  • 4Montagna P, Gambetti P, Cortelli P, et al. Familial and sporadic fatal insomnia [ J ]. Lancet Neurology, 2003,2 ( 3 ) : 167 - 176.
  • 5Tabemero C,Polo JM,Sevillano MD,et al, Fatal familial insomnia: clinical, neuropathological, and genetic description of a Spanish family [ J ]. J Neurol Neurosurg Psychiatry,2000,68.774 - 777.
  • 6Thomas AV, Klein JC, Brockhaus-Dumke A, et al. Fatal familial insomnia:case presentation and discussion of typical clinical and imaging findings [ J ]. Nervenarzt,2006,77 ( 6 ) :711 - 715.
  • 7Sial XH, Hart J, Zhang J, et al. Clinical, htstopathological and ge- netic studies in a family with fatal familial insomnia [ J ]. Infec- tion, Genetics and Evolution,2010,10 (2) :292 - 297.
  • 8Eghiaian F, Grosclande J, Lesceu S, et al. Insight into the PrPC→ PrP^sc conversion from the structures of antibody-bound ovine prion scrapie-susceptibility variants[ J]. Proc Natl Acad Sci USA ,2004, 101 (28) : 10254 - 10259.
  • 9Wang XF, Guo YJ,Zhang BY,et al. Creutzfeldt-Jakob disease in a Chinese patient with a novel seven extra-repeat insertion in PRNP [J]. J Neurol Neurosurg Psychiatry ,2007,78 (2) :201 - 203.
  • 10Almer G, Hainfellner JA, Brucke T, et al. Fatal familial insomnia: a new Austrian family[ J]. Brain,1999,122( Pt 1 ) :5 -16.

引证文献5

二级引证文献9

中华神经科杂志
2007年 第5期

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