克雅病临床前诊断研究
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摘要
<正>目前认为克雅病(Creutzfeldt-Jakob disease,CJD)是一种罕见致命的神经退行性疾病,是由中枢系统内致病型朊蛋白(scrapie prion protein,PrP~(Sc))异常沉积所致。本文就CJD的病理及分子生物学基础,从体液、外周免疫器官、神经影像学等方面临床前生物标志物的研究进展进行综述。随着其分子生物学基础和病理生理学研究不断深入,目前其临床前
引文
[1]Degnan A J,Levy L M.Inherited forms of Creutzfeldt-Jakob disease[J].AJNR Am J Neuroradiol,2013,34(9):1690-1691.
[2]Sikorska B,Knight R,Ironside J W, et al.Creutzfeldt-Jakob disease[J].Adv Exp Med Biol,2012,724:76-90.
[3]Collins S,Boyd A,Fletcher A,et al.Recent advances in the premortem diagnosis of Creutzfeldt-Jakob disease[J].J Clin Neurosci,2000,7(3):195-202.
[4]Rosenbloom M H,Atri A.The evaluation of rapidly progressive dementia[J].Neurologist,2011,17(2):67-74.
[5]Gigi A,Vakil E,Kahana E,et al.Presymptomatic signs in healthy CJD mutation carriers[J].Dement Geriatr Cogn Disord,2005,19(5-6):246-255.
[6]Zou S,Fang C T, Schonberger L B.Transfusion transmission of human prion diseases[J].Transfus Med Rev,2008,22(1):58-69.
[7]Thomzig A,Schulz-Schaeffer W,Kratzel C,et al.Preclinical deposition of pathological prion protein PrPSc in muscles of hamsters orally exposed to scrapie[J].J Clin Invest,2004,113(10):1465-1472.
[8]Thomzig A,Cardone F,Kruger D,et al.Pathological prion protein in muscles of hamsters and mice infected with rodent-adapted BSE or vCJD[J].J Gen Virol,2006,87(Pt 1):251-254.
[9]Peden A H, Ritchie D L,Head M W, et al.Detection and localization of PrPSc in the skeletal muscle of patients with variant,iatrogenic,and sporadic forms of Creutzfeldt-Jakob disease[J].Am J Pathol,2006,168(3):927-935.
[10]Kovacs G G,Lindeck-Pozza E,Chimelli L,et al.Creutzfeldt-Jakob disease and inclusion body myositis:abundant disease-associated prion protein in muscle[J].Ann Neurol,2004,55(1):121-125.
[11]Bishop M T,Diack A B,Ritchie D L,et al.Prion infectivity in the spleen of a PRNP heterozygous individual with subclinical variant Creutzfeldt-Jakob disease[J].Brain,2013,136(Pt 4):1139-1145.
[12]Peden A H,Head M W,Ritchie D L,et al.Preclinical vCJD after blood transfusion in a PRNP codon 129 heterozygous patient[J].Lancet,2004,364(9433):527-529.
[13]Llewelyn C A,Hewitt P E,Knight R S,et al.Possible transmission of variant Creutzfeldt-Jakob disease by blood transfusion[J].Lancet,2004,363(9407):417-421.
[14]Bird S M.Attributable testing for abnormal prion protein,database linkage,and blood-borne vCJD risks[J].Lancet,2004,364(9442):1362-1364.
[15]Douet J Y,Zafar S,Perret-Liaudet A,et al.Detection of infectivity in blood of persons with variant and sporadic Creutzfeldt-Jakob disease[J].Emerg Infect Dis,2014,20(1):114-1 17.
[16]Tattum M H,Jones S,Pal S,et al.Discrimination between prioninfected and normal blood samples by protein misfolding cyclic amplification[J].Transfusion,2010,50(5):996-1002.
[17]Rubenstein R,Chang B,Gray P,et al.A novel method for preclinicaldetection of PrPSc in blood[J].J Gen Virol,2010,91(Pt7):1883-1892.
[18]Halliez S,Jaumain E,Huor A,et al.White blood cell-based detection of asymptomatic scrapie infection by ex vivo assays[J].PLoS One,2014,9(8):e104287.
[19]Saa P,Yakovleva O,de Castro J,et al.First demonstration of transmissible spongiform encephalopathy-associated prion protein(PrPTSE)in extracellular vesicles from plasma of mice infected with mouse-adapted variant Creutzfeldt-Jakob disease by in vitro amplification[J].J Biol Chem,2014,289(42):29247-29260.
[20]McDowell K L,Nag N,Franco Z,et al.Blood reference materials from macaques infected with variant Creutzfeldt-Jakob disease agent[J].Transfusion,2015,55(2):405-412.
[21]Tagliapietra M,Zanusso G,Fiorini M,et al.Accuracy of diagnostic criteria for sporadic creutzfeldt-jakob disease among rapidly progressive dementia[J].J Alzheimers Dis,2013,34(1):231-238.
[22]Hamlin C,Puoti G,Berri S,et al.A comparison of tau and 14-3-3 protein in the diagnosis of Creutzfeldt-Jakob disease[J].Neurology,2012,79(6):547-552.
[23]McGuire L I,Peden A H,Orru C D,et al.Real time quakinginduced conversion analysis of cerebrospinal fluid in sporadic Creutzfeldt-Jakob disease[J].Ann Neurol,2012,72(2):278-285.
[24]Wood H.Prion disease:New approaches to CJD diagnosis[J].Nat Rev Neurol,2012,8(5):241.
[25]Lattanzio F,Abu-Rumeileh S,Franceschini A,et al.Prion-specific and surrogate CSF biomarkers in Creutzfeldt-Jakob disease:diagnostic accuracy in relation to molecular subtypes and analysis of neuropathological correlates of p-tau and Abeta42 levels[J].Acta Neuropathol,2017,133(4):559-578.
[26]Maddison B C,Rees H C,Baker C A,et al.Prions are secreted into the oral cavity in sheep with preclinical scrapie[J].J Infect Dis,2010,201(11):1672-1676.
[27]Murayama Y,Ono F,Shimozaki N,et al.L-Arginine ethylester enhances in vitro amplification of PrP(Sc)in macaques with atypical L-type bovine spongiform encephalopathy and enables presymptomatic detection of PrP(Sc)in the bodily fluids[J].Biochem Biophys Res Commun,2016,470(3):563-568.
[28]Beringue V,Le Dur A,Tixador P,et al.Prominent and persistent extraneural infection in human PrP transgenic mice infected with variant CJD[J].PLoS One,2008,3(1):e1419.
[29]Tschampa H J,Kallenberg K,Kretzschmar H A,et al.Pattern of cortical changes in sporadic Creutzfeldt-Jakob disease[J].AJNR Am J Neuroradiol,2007,28(6):1114-1118.
[30]Ukisu R,Kushihashi T,Kitanosono T,et al.Serial diffusionweighted MRI of Creutzfeldt-Jakob disease[J].AJR Am J Roentgenol,2005,184(2):560-566.
[31]Alvarez F J,Bisbe J,Bisbe V,et al.Magnetic resonance imaging findings in pre-clinical Creutzfeldt-Jakob disease[J].Int J Neurosci,2005,115(8):1219-1225.
[32]Terasawa Y,Fujita K,Izumi Y,et al.Early detection of familial Creutzfeldt-Jakob disease on diffusion-weighted imaging before symptom onset[J].J Neurol Sci,2012,319(1-2):130-132.
[33]Satoh K,Nakaoke R,Nishiura Y,et al.Early detection of sporadic CJD by diffusion-weighted MRI before the onset of symptoms[J].J Neurol Neurosurg Psychiatry,2011,82(8):942-943.
[34]Broom K A,Anthony D C,Lowe J P,et al.MRI and MRS alterations in the preclinical phase of murine prion disease:association with neuropathological and behavioural changes[J].Neurobiol Dis,2007,26(3):707-717.
[35]Shiga Y,Miyazawa K,Sato S,et al.Diffusion-weighted MRI abnormalities as an early diagnostic marker for Creutzfeldt-Jakob disease[J].Neurology,2004,63(3):443-449.
[36]Vidal C,Meric P,Provost F,et al.Preclinical metabolic changes in mouse prion diseases detected by 1 H-nuclear magnetic resonance spectroscopy[J].Neuroreport,2006,17(1):89-93.
[37]Waldman A D,Cordery R J,MacManus D G,et al.Regional brain metabolite abnormalities in inherited prion disease and asymptomatic gene carriers demonstrated in vivo by quantitative proton magnetic resonance spectroscopy[J].Neuroradiology,2006,48(6):428-433.
[38]Lee H,Rosenmann H,Chapman J,et al.Thalamo-striatal diffusion reductions precede disease onset in prion mutation carriers[J].Brain,2009,132(Pt 10):2680-2687.
[39]Cohen 0 S,Chapman J,Korczyn A D,et al.Familial CreutzfeldtJakob disease with the E200K mutation:longitudinal neuroimaging from asymptomatic to symptomatic CJD[J].J Neurol,2015,262(3):604-613.
[40]Henkel K,Zerr I,Hertel A,et al.Positron emission tomography with[(18)F]FDG in the diagnosis of Creutzfeldt-Jakoh disease(CJD)[J].J Neurol,2002,249(6):699-705.
[41]Prieto E,Dominguez-Prado I,Riverol M,et al.Metabolic patterns in prion diseases:an FDG PET voxel-based analysis[J].Eur J Nucl Med Mol Imaging,2015,42(10):1522-1529.
[42]Kim E J,Cho S S,Jeong B H,et al.Glucose metabolism in sporadic Creutzfeldt-Jakob disease:a statistical parametric mapping analysis of(18)F-FDG PET[J].Eur J Neurol,2012,19(3):488-493.
[43]Renard D,Vandenberghe R,Collombier L,et al.Glucose metabolism in nine patients with probable sporadic:Creutzfeldt-Jakob disease:FDG-PET study using SPM and individual patient analysis[J].J Neurol,2013,260(12):3055-3064.
[44]Cortelli P,Perani D,Montagna P,et al.Pre-symptomatic diagnosis in fatal familial insomnia:serial neurophysiological and 18FDGPET studies[J].Brain,2006,129(Pt 3):668-675.
[45]Matias-Guiu J A,Guerrero-Marquez C,Cabrera-Martin M N,et al.Amyloid-and FDG-PET in sporadic Creutzfeldt-Jakob disease:Correlation with pathological prion protein in neuropathology[J].Prion,2017,11(3):205-213.
[46]Wang P,Li R,Yu J,et al.Altered distant synchronization of background network in mild cognitive impairment during an executive function task[J].Front Behav Neurosci,2017,11:174.
[47]Liu X,Wang S,Zhang X,et al.Abnormal amplitude of lowfrequency fluctuations of intrinsic brain activity in Alzheimer's disease[J].J Alzheimers Dis,2014,40(2):387-397.
[2]Sikorska B,Knight R,Ironside J W, et al.Creutzfeldt-Jakob disease[J].Adv Exp Med Biol,2012,724:76-90.
[3]Collins S,Boyd A,Fletcher A,et al.Recent advances in the premortem diagnosis of Creutzfeldt-Jakob disease[J].J Clin Neurosci,2000,7(3):195-202.
[4]Rosenbloom M H,Atri A.The evaluation of rapidly progressive dementia[J].Neurologist,2011,17(2):67-74.
[5]Gigi A,Vakil E,Kahana E,et al.Presymptomatic signs in healthy CJD mutation carriers[J].Dement Geriatr Cogn Disord,2005,19(5-6):246-255.
[6]Zou S,Fang C T, Schonberger L B.Transfusion transmission of human prion diseases[J].Transfus Med Rev,2008,22(1):58-69.
[7]Thomzig A,Schulz-Schaeffer W,Kratzel C,et al.Preclinical deposition of pathological prion protein PrPSc in muscles of hamsters orally exposed to scrapie[J].J Clin Invest,2004,113(10):1465-1472.
[8]Thomzig A,Cardone F,Kruger D,et al.Pathological prion protein in muscles of hamsters and mice infected with rodent-adapted BSE or vCJD[J].J Gen Virol,2006,87(Pt 1):251-254.
[9]Peden A H, Ritchie D L,Head M W, et al.Detection and localization of PrPSc in the skeletal muscle of patients with variant,iatrogenic,and sporadic forms of Creutzfeldt-Jakob disease[J].Am J Pathol,2006,168(3):927-935.
[10]Kovacs G G,Lindeck-Pozza E,Chimelli L,et al.Creutzfeldt-Jakob disease and inclusion body myositis:abundant disease-associated prion protein in muscle[J].Ann Neurol,2004,55(1):121-125.
[11]Bishop M T,Diack A B,Ritchie D L,et al.Prion infectivity in the spleen of a PRNP heterozygous individual with subclinical variant Creutzfeldt-Jakob disease[J].Brain,2013,136(Pt 4):1139-1145.
[12]Peden A H,Head M W,Ritchie D L,et al.Preclinical vCJD after blood transfusion in a PRNP codon 129 heterozygous patient[J].Lancet,2004,364(9433):527-529.
[13]Llewelyn C A,Hewitt P E,Knight R S,et al.Possible transmission of variant Creutzfeldt-Jakob disease by blood transfusion[J].Lancet,2004,363(9407):417-421.
[14]Bird S M.Attributable testing for abnormal prion protein,database linkage,and blood-borne vCJD risks[J].Lancet,2004,364(9442):1362-1364.
[15]Douet J Y,Zafar S,Perret-Liaudet A,et al.Detection of infectivity in blood of persons with variant and sporadic Creutzfeldt-Jakob disease[J].Emerg Infect Dis,2014,20(1):114-1 17.
[16]Tattum M H,Jones S,Pal S,et al.Discrimination between prioninfected and normal blood samples by protein misfolding cyclic amplification[J].Transfusion,2010,50(5):996-1002.
[17]Rubenstein R,Chang B,Gray P,et al.A novel method for preclinicaldetection of PrPSc in blood[J].J Gen Virol,2010,91(Pt7):1883-1892.
[18]Halliez S,Jaumain E,Huor A,et al.White blood cell-based detection of asymptomatic scrapie infection by ex vivo assays[J].PLoS One,2014,9(8):e104287.
[19]Saa P,Yakovleva O,de Castro J,et al.First demonstration of transmissible spongiform encephalopathy-associated prion protein(PrPTSE)in extracellular vesicles from plasma of mice infected with mouse-adapted variant Creutzfeldt-Jakob disease by in vitro amplification[J].J Biol Chem,2014,289(42):29247-29260.
[20]McDowell K L,Nag N,Franco Z,et al.Blood reference materials from macaques infected with variant Creutzfeldt-Jakob disease agent[J].Transfusion,2015,55(2):405-412.
[21]Tagliapietra M,Zanusso G,Fiorini M,et al.Accuracy of diagnostic criteria for sporadic creutzfeldt-jakob disease among rapidly progressive dementia[J].J Alzheimers Dis,2013,34(1):231-238.
[22]Hamlin C,Puoti G,Berri S,et al.A comparison of tau and 14-3-3 protein in the diagnosis of Creutzfeldt-Jakob disease[J].Neurology,2012,79(6):547-552.
[23]McGuire L I,Peden A H,Orru C D,et al.Real time quakinginduced conversion analysis of cerebrospinal fluid in sporadic Creutzfeldt-Jakob disease[J].Ann Neurol,2012,72(2):278-285.
[24]Wood H.Prion disease:New approaches to CJD diagnosis[J].Nat Rev Neurol,2012,8(5):241.
[25]Lattanzio F,Abu-Rumeileh S,Franceschini A,et al.Prion-specific and surrogate CSF biomarkers in Creutzfeldt-Jakob disease:diagnostic accuracy in relation to molecular subtypes and analysis of neuropathological correlates of p-tau and Abeta42 levels[J].Acta Neuropathol,2017,133(4):559-578.
[26]Maddison B C,Rees H C,Baker C A,et al.Prions are secreted into the oral cavity in sheep with preclinical scrapie[J].J Infect Dis,2010,201(11):1672-1676.
[27]Murayama Y,Ono F,Shimozaki N,et al.L-Arginine ethylester enhances in vitro amplification of PrP(Sc)in macaques with atypical L-type bovine spongiform encephalopathy and enables presymptomatic detection of PrP(Sc)in the bodily fluids[J].Biochem Biophys Res Commun,2016,470(3):563-568.
[28]Beringue V,Le Dur A,Tixador P,et al.Prominent and persistent extraneural infection in human PrP transgenic mice infected with variant CJD[J].PLoS One,2008,3(1):e1419.
[29]Tschampa H J,Kallenberg K,Kretzschmar H A,et al.Pattern of cortical changes in sporadic Creutzfeldt-Jakob disease[J].AJNR Am J Neuroradiol,2007,28(6):1114-1118.
[30]Ukisu R,Kushihashi T,Kitanosono T,et al.Serial diffusionweighted MRI of Creutzfeldt-Jakob disease[J].AJR Am J Roentgenol,2005,184(2):560-566.
[31]Alvarez F J,Bisbe J,Bisbe V,et al.Magnetic resonance imaging findings in pre-clinical Creutzfeldt-Jakob disease[J].Int J Neurosci,2005,115(8):1219-1225.
[32]Terasawa Y,Fujita K,Izumi Y,et al.Early detection of familial Creutzfeldt-Jakob disease on diffusion-weighted imaging before symptom onset[J].J Neurol Sci,2012,319(1-2):130-132.
[33]Satoh K,Nakaoke R,Nishiura Y,et al.Early detection of sporadic CJD by diffusion-weighted MRI before the onset of symptoms[J].J Neurol Neurosurg Psychiatry,2011,82(8):942-943.
[34]Broom K A,Anthony D C,Lowe J P,et al.MRI and MRS alterations in the preclinical phase of murine prion disease:association with neuropathological and behavioural changes[J].Neurobiol Dis,2007,26(3):707-717.
[35]Shiga Y,Miyazawa K,Sato S,et al.Diffusion-weighted MRI abnormalities as an early diagnostic marker for Creutzfeldt-Jakob disease[J].Neurology,2004,63(3):443-449.
[36]Vidal C,Meric P,Provost F,et al.Preclinical metabolic changes in mouse prion diseases detected by 1 H-nuclear magnetic resonance spectroscopy[J].Neuroreport,2006,17(1):89-93.
[37]Waldman A D,Cordery R J,MacManus D G,et al.Regional brain metabolite abnormalities in inherited prion disease and asymptomatic gene carriers demonstrated in vivo by quantitative proton magnetic resonance spectroscopy[J].Neuroradiology,2006,48(6):428-433.
[38]Lee H,Rosenmann H,Chapman J,et al.Thalamo-striatal diffusion reductions precede disease onset in prion mutation carriers[J].Brain,2009,132(Pt 10):2680-2687.
[39]Cohen 0 S,Chapman J,Korczyn A D,et al.Familial CreutzfeldtJakob disease with the E200K mutation:longitudinal neuroimaging from asymptomatic to symptomatic CJD[J].J Neurol,2015,262(3):604-613.
[40]Henkel K,Zerr I,Hertel A,et al.Positron emission tomography with[(18)F]FDG in the diagnosis of Creutzfeldt-Jakoh disease(CJD)[J].J Neurol,2002,249(6):699-705.
[41]Prieto E,Dominguez-Prado I,Riverol M,et al.Metabolic patterns in prion diseases:an FDG PET voxel-based analysis[J].Eur J Nucl Med Mol Imaging,2015,42(10):1522-1529.
[42]Kim E J,Cho S S,Jeong B H,et al.Glucose metabolism in sporadic Creutzfeldt-Jakob disease:a statistical parametric mapping analysis of(18)F-FDG PET[J].Eur J Neurol,2012,19(3):488-493.
[43]Renard D,Vandenberghe R,Collombier L,et al.Glucose metabolism in nine patients with probable sporadic:Creutzfeldt-Jakob disease:FDG-PET study using SPM and individual patient analysis[J].J Neurol,2013,260(12):3055-3064.
[44]Cortelli P,Perani D,Montagna P,et al.Pre-symptomatic diagnosis in fatal familial insomnia:serial neurophysiological and 18FDGPET studies[J].Brain,2006,129(Pt 3):668-675.
[45]Matias-Guiu J A,Guerrero-Marquez C,Cabrera-Martin M N,et al.Amyloid-and FDG-PET in sporadic Creutzfeldt-Jakob disease:Correlation with pathological prion protein in neuropathology[J].Prion,2017,11(3):205-213.
[46]Wang P,Li R,Yu J,et al.Altered distant synchronization of background network in mild cognitive impairment during an executive function task[J].Front Behav Neurosci,2017,11:174.
[47]Liu X,Wang S,Zhang X,et al.Abnormal amplitude of lowfrequency fluctuations of intrinsic brain activity in Alzheimer's disease[J].J Alzheimers Dis,2014,40(2):387-397.