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中华脑科疾病与康复杂志(电子版) ›› 2019, Vol. 09 ›› Issue (01) : 39 -44. doi: 10.3877/cma.j.issn.2095-123X.2019.01.009

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综述

遗传型朊蛋白病的研究进展
戴妍源1, 张微观刘1, 张柏茁1, 崔俐1,†()   
  1. 1. 130021　长春，吉林大学第一医院神经内科
  • 收稿日期:2018-12-07 出版日期:2019-02-15
  • 通信作者: 崔俐

Progress in research of inherited prion disease

Yanyuan Dai1, Weiguanliu Zhang1, Baizhuo Zhang1, Li Cui1,†()   

  1. 1. Department of Neurology, The First Hospital of Jilin University, Changchun 130021, China
  • Received:2018-12-07 Published:2019-02-15
  • Corresponding author: Li Cui
  • About author:
    Corresponding author: Cui Li, Email:
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戴妍源, 张微观刘, 张柏茁, 崔俐. 遗传型朊蛋白病的研究进展[J]. 中华脑科疾病与康复杂志(电子版), 2019, 09(01): 39-44.

Yanyuan Dai, Weiguanliu Zhang, Baizhuo Zhang, Li Cui. Progress in research of inherited prion disease[J]. Chinese Journal of Brain Diseases and Rehabilitation(Electronic Edition), 2019, 09(01): 39-44.

遗传型朊蛋白病（IPD）是由于编码朊蛋白（PrP）的PRNP基因发生突变，导致PrP发生空间构象改变而引起的神经系统退行性病变。与散发型克雅氏病（sCJD）患者相比，IPD患者的临床表型存在较大异质性，发病年龄往往较早，病程也相对较长，常规辅助检查（核磁、脑电图、14-3-3蛋白）通常无明显改变，且大多缺乏家族病史，临床上容易误诊漏诊。本文就IPD的流行病学特征、病因及发病机制、PRNP突变类型与疾病表型的相关性、3种IPD的具体临床特征、神经组织病理特征、辅助检查特点及相关研究进展等方面进行综述。

关键词: 朊蛋白, 遗传型朊蛋白病, 遗传型克雅氏病, 家族性致死性失眠, Gerstmann-Straussler-Scheinker综合征

Inherited prion disease (IPD) is a neurodegenerative disease caused by the mutation of PRNP gene encoding prion protein (PrP), which results in the change of spatial conformation of PrP. Compared to sporadic Creutzfeldt-Jakob diseases (sCJD), the clinical phenotype of patients with IPD is mostly heterogeneity. Moreover, patients with IPD often have earlier onset age. The duration of the disease is relatively longer. Regular auxiliary examination (MRI, EEG, protein 14-3-3) are usually negative. Because most of the IPD patients do not have family history, clinicians without adequate knowledge of the IPD can misdiagnose easily. This paper reviews the epidemiological characteristics, etiology and pathogenesis of IPD and the correlation of PRNP mutation and disease phenotype of IPD. It also includes the specific clinical characteristics, the nervous tissue pathologies and the auxiliary examination characteristics of the three types of IPD, as well as their related research progress.

Key words: Prion protein, Inherited prion disease, Genetic Creutzfeldt-Jakob disease, Fatal familial insomnia, Gerstmann-Str?ussler-Scheinker syndrome
[1]
Aguzzi A. Prion diseases of humans and farm animals: epidemiology, genetics, and pathogenesis[J]. J Neurochem, 2006, 97(6): 1726-1739.
[2]
Geschwind MD. Prion diseases[J]. Continuum (Minneap Minn), 2015, 21(6): 1612-1638.
[3]
Prusiner SB. Biology and genetics of prion diseases[J]. Annu Rev Microbiol, 1994, 48: 655-686.
[4]
Shi Q, Zhou W, Chen C, et al. The features of genetic prion diseases based on chinese surveillance program[J]. PLoS One, 2015, 10(10): e0139552.
[5]
Kim MO, Takada LT, Wong K, et al. Genetic PrP prion diseases[J]. Cold Spring Harb Perspect Biol, 2018, 10(5): a033134.
[6]
Kovacs GG, Puopolo M, Ladogana A, et al. Genetic prion disease: the EUROCJD experience[J]. Hum Genet, 2005, 118(2): 166-174.
[7]
Chen C, Dong XP. Epidemiological characteristics of human prion diseases[J]. Infect Dis Poverty, 2016, 5(1): 47.
[8]
Cohen OS, Kimiagar I, Korczyn AD, et al. Unusual presentations in patients with E200K familial Creutzfeldt-Jakob disease[J]. Eur J Neurol, 2016, 23(5): 871-877.
[9]
Jeong BH, Kim YS. Genetic studies in human prion diseases[J]. J Korean Med Sci, 2014, 29(5): 623-632.
[10]
Nozaki I, Hamaguchi T, Sanjo N, et al. Prospective 10-year surveillance of human prion diseases in Japan[J]. Brain, 2010, 133(10): 3043-3057.
[11]
Stahl N, Borchelt DR, Hsiao K, et al. Scrapie prion protein contains a phosphatidylinositol glycolipid[J]. Cell, 1987, 51(2): 229-240.
[12]
Capellari S, Strammiello R, Saverioni D, et al. Genetic Creutzfeldt-Jakob disease and fatal familial insomnia: insights into phenotypic variability and disease pathogenesis[J]. Acta Neuropathol, 2011, 121(1): 21-37.
[13]
Prusiner SB. Cell biology. A unifying role for prions in neurodegenerative diseases[J]. Science, 2012, 336(6088): 1511-1513.
[14]
Mercer RCC, Daude N, Dorosh L, et al. A novel Gerstmann-Straussler-Scheinker disease mutation defines a precursor for amyloidogenic 8 kDa PrP fragments and reveals N-terminal structural changes shared by other GSS alleles[J]. PLoS Pathog, 2018, 14(1): e1006826.
[15]
Asante EA, Linehan JM, Smidak M, et al. Inherited prion disease A117V is not simply a proteinopathy but produces prions transmissible to transgenic mice expressing homologous prion protein[J]. PLoS Pathog, 2013, 9(9): e1003643.
[16]
Deignan ME, Prior M, Stuart LE, et al. The structure function relationship for the Prion protein[J]. J Alzheimers Dis, 2004, 6(3): 283-289.
[17]
Wang Z, Feng B, Xiao G, et al. Roles of methionine oxidation in E200K prion protein misfolding: implications for the mechanism of pathogenesis in E200K linked familial Creutzfeldt-Jakob disease[J]. Biochim Biophys Acta, 2016, 1864(4): 346-358.
[18]
Mitrova E, Mayer V, Jovankovicova V, et al. Creutzfeldt-Jakob disease risk and PRNP codon 129 polymorphism: necessity to revalue current data[J]. Eur J Neurol, 2005, 12(12): 998-1001.
[19]
Krasnianski A, Heinemann U, Ponto C, et al. Clinical findings and diagnosis in genetic prion diseases in Germany[J]. Eur J Epidemiol, 2016, 31(2): 187-196.
[20]
Smid J, Studart A Neto, Landemberger MC, et al. High phenotypic variability in Gerstmann-Sträussler-Scheinker disease[J]. Arq Neuropsiquiatr, 2017, 75(6): 331-338.
[21]
Lee SM, Chung M, Hwang KJ, et al. Biological network inferences for a protection mechanism against familial Creutzfeldt-Jakob disease with E200K pathogenic mutation[J]. BMC Med Genomics, 2014, 7: 52.
[22]
Minikel EV, Vallabh SM, Lek M, et al. Quantifying prion disease penetrance using large population control cohorts[J]. Sci Transl Med, 2016, 8(322): 322ra9.
[23]
Lee SM, Chung M, Hyeon JW, et al. Genomic characteristics of genetic creutzfeldt-jakob disease patients with V180I mutation and associations with other neurodegenerative disorders[J]. PLoS One, 2016, 11(6): e0157540.
[24]
Goldgaber D, Goldfarb LG, Brown P, et al. Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Straussler-Scheinker’s syndrome[J]. Exp Neurol, 1989, 106(2): 204-206.
[25]
Renard D, Orgeval J, Sazdovitch V, et al. Genetic Creutzfeldt-Jakob disease with an 8-year disease course[J]. Acta Neurol Belg, 2018, 118(2): 313-314.
[26]
Jarius C, Kovacs GG, Belay G, et al. Distinctive cerebellar immunoreactivity for the prion protein in familial (E200K) Creutzfeldt-Jakob disease[J]. Acta Neuropathol, 2003, 105(5): 449-454.
[27]
Reiniger L, Mirabile I, Lukic A, et al. Filamentous white matter prion protein deposition is a distinctive feature of multiple inherited prion diseases[J]. Acta Neuropathol Commun, 2013, 1: 8.
[28]
Iwasaki Y, Kato H, Ando T, et al. Autopsy case of V180I genetic Creutzfeldt-Jakob disease presenting with early disease pathology[J]. Neuropathology, 2018, 38(6): 638-645.
[29]
Hayashi Y, Yoshikura N, Takekoshi A, et al. Preserved regional cerebral blood flow in the occipital cortices, brainstem, and cerebellum of patients with V180I-129M genetic Creutzfeldt-Jakob disease in serial SPECT studies[J]. J Neurol Sci, 2016, 370: 145-151.
[30]
Cohen OS, Prohovnik I, Korczyn AD, et al. Characterization of movement disorders in patients with familial Creutzfeldt-Jakob disease carrying the E200K mutation[J]. Isr Med Assoc J, 2012, 14(3): 162-165.
[31]
Liberski PP. Gerstmann-Straussler-Scheinker disease[J]. Adv Exp Med Biol, 2012, 724: 128-137.
[32]
Rusina R, Fiala J, Holada K, et al. Gerstmann-Straussler-Scheinker syndrome with the P102L pathogenic mutation presenting as familial Creutzfeldt-Jakob disease: a case report and review of the literature[J]. Neurocase, 2013, 19(1): 41-53.
[33]
Iwasaki Y, Kizawa M, Hori N, et al. A case of Gerstmann-Straussler-Scheinker syndrome with the P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis[J]. Clin Neurol Neurosurg, 2009, 111(7): 606-609.
[34]
Schmitz M, Dittmar K, Llorens F, et al. Hereditary human prion diseases: an update[J]. Mol Neurobiol, 2017, 54(6): 4138-4149.
[35]
Webb TE, Poulte M, Beck J, et al. Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series[J]. Brain, 2008, 131(Pt 10): 2632-2646.
[36]
Bugiani O, Giaccone G, Piccardo P, et al. Neuropathology of Gerstmann-Straussler-Scheinker disease[J]. Microsc Res Tech, 2000, 50(1): 10-15.
[37]
Riudavets MA, Sraka MA, Schultz M, et al. Gerstmann-Straussler-Scheinker syndrome with variable phenotype in a new kindred with PRNP-P102L mutation[J]. Brain Pathol, 2014, 24(2): 142-147.
[38]
Krasnianski A, von Ahsen N, Heinemann U, et al. ApoE distribution and family history in genetic prion diseases in Germany[J]. J Mol Neurosci, 2008, 34(1): 45-50.
[39]
Yoshimura M, Yuan JH, Higashi K, et al. Correlation between clinical and radiologic features of patients with Gerstmann-Straussler-Scheinker syndrome (Pro102Leu)[J]. J Neurol Sci, 2018, 391: 15-21.
[40]
Cracco L, Appleby BS, Gambetti P. Fatal familial insomnia and sporadic fatal insomnia[J]. Handb Clin Neurol, 2018, 153: 271-299.
[41]
Khan Z, Bollu PC. Fatal familial insomnia[M]. Treasure Island (FL): StatPearls Publishing, 2019.
[42]
Spacey SD, Pastore M, McGillivray B, et al. Fatal familial insomnia: the first account in a family of chinese descent[J]. Arch Neurol, 2004, 61(1): 122-125.
[43]
Wu LY, Zhan SQ, Huang ZY, et al. Expert Consensus on Clinical Diagnostic Criteria for Fatal Familial Insomnia[J]. Chin Med J (Engl), 2018, 131(13): 1613-1617.
[44]
Krasnianski A, Bartl M, Sanchez Juan PJ, et al. Fatal familial insomnia: Clinical features and early identification[J]. Ann Neurol, 2008, 63(5): 658-661.
[45]
Harder A, Gregor A, Wirth T, et al. Early age of onset in fatal familial insomnia. Two novel cases and review of the literature[J]. J Neurol, 2004, 251(6): 715-724.
[46]
Cortelli P, Perani D, Montagna P, et al. Pre-symptomatic diagnosis in fatal familial insomnia: serial neurophysiological and 18FDG-PET studies[J]. Brain, 2006, 129(Pt 3): 668-675.
[47]
Wu L, Lu H, Wang X, et al. Clinical features and sleep analysis of chinese patients with fatal familial insomnia[J]. Sci Rep, 2017, 7(1): 3625.
[48]
Krasnianski A, Sanchez Juan P, Ponto C, et al. A proposal of new diagnostic pathway for fatal familial insomnia[J]. J Neurol NeurosurgPsychiatry, 2014, 85(6): 654-659.
[49]
边洋，王帅，韩晓琛,等.致死性家族性失眠症2家系患者的临床、影像及基因改变特点[J].中华医学杂志, 2018, 98(31): 2501-2504.
[50]
Redaelli V, Bistaffa E, Zanusso G, et al. Detection of prion seeding activity in the olfactory mucosa of patients with fatal familial insomnia[J]. Sci Rep, 2017, 7: 46269.
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