朊病毒病

Prusiner SB. Shattuck lecture: neurodegenerative diseases and prions. N Engl J Med. 2001 May 17;344(20):1516-26.

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Prusiner SB. Prions. Proc Natl Acad Sci U S A. 1998 Nov 10;95(23):13363-83.

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Department of Health. Minimise transmission risk of CJD and vCJD in healthcare settings. August 2017. [internet publication].

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Bouzamondo-Bernstein E, Hopkins SD, Spilman P, et al. The neurodegeneration sequence in prion diseases: evidence from functional, morphological and ultrastructural studies of the GABAergic system. J Neuropathol Exp Neurol. 2004 Aug;63(8):882-99.

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Vitali P, Maccagnano E, Caverzasi E, et al. Diffusion-weighted MRI hyperintensity patterns differentiate CJD from other rapid dementias. Neurology. 2011 May 17;76(20):1711-9.

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Josephson SA, Papanastassiou AM, Berger MS, et al. The diagnostic utility of brain biopsy procedures in patients with rapidly deteriorating neurological conditions or dementia. J Neurosurg. 2007 Jan;106(1):72-5.

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Vernino S, Geschwind MD, Boeve B. Autoimmune encephalopathies. Neurologist. 2007 May;13(3):140-7.

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Geschwind MD, Haman A, Miller BL. Rapidly progressive dementia. Neurol Clin. 2007 Aug;25(3):783-807, vii.

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1.  Mastrianni JA, Roos RP. The prion diseases. Semin Neurol. 2000;20(3):337-52.

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2.  Will RG, Alperovitch A, Poser S, et al. Descriptive epidemiology of Creutzfeldt-Jakob disease in six European countries, 1993-1995. EU Collaborative Study Group for CJD. Ann Neurol. 1998 Jun;43(6):763-7.

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3.  Prusiner SB. Shattuck lecture: neurodegenerative diseases and prions. N Engl J Med. 2001 May 17;344(20):1516-26.

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4.  Prusiner SB. The prion diseases. Brain Pathol. 1998 Jul;8(3):499-513.

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5.  Prusiner SB. Prions. Proc Natl Acad Sci U S A. 1998 Nov 10;95(23):13363-83.

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6.  Kong Q, Surewicz WK, Petersen RB, et al. Inherited prion diseases. In: Prusiner SB, ed. Prion biology and disease. 2nd ed. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press; 2004:673-776.

7.  Minikel EV, Vallabh SM, Lek M, et al. Quantifying prion disease penetrance using large population control cohorts. Sci Transl Med. 2016 Jan 20;8(322):322ra9.

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8.  Will RG. Acquired prion disease: iatrogenic CJD, variant CJD, kuru. Br Med Bull. 2003;66:255-265.

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9.  Brown P, Preece M, Brandel JP, et al. Iatrogenic Creutzfeldt-Jakob disease at the millennium. Neurology. 2000 Oct 24;55(8):1075-81.

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10.  Peden A, McCardle L, Head MW, et al. Variant CJD infection in the spleen of a neurologically asymptomatic UK adult patient with haemophilia. Haemophilia. 2010 Mar;16(2):296-304.

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11.  Will RG, Zeidler M, Stewart GE, et al. Diagnosis of new variant Creutzfeldt-Jakob disease. Ann Neurol. 2000 May;47(5):575-82.

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12.  Will RG, Ironside JW, Zeidler M, et al. A new variant of Creutzfeldt-Jakob disease in the UK. Lancet. 1996 Apr 6;347(9006):921-5.

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13.  Heath CA, Cooper SA, Murray K, et al. Diagnosing variant Creutzfeldt-Jakob disease: a retrospective analysis of the first 150 cases in the UK. J Neurol Neurosurg Psychiatry. 2011 Jun;82(6):646-51.

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14.  Collins SJ, Sanchez-Juan P, Masters CL, et al. Determinants of diagnostic investigation sensitivities across the clinical spectrum of sporadic Creutzfeldt-Jakob disease. Brain. 2006 Sep;129(Pt 9):2278-87.

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15.  Panagariya A, Jain RS, Sharma AK. Stroke like presentation of Creutzfeldt Jakob disease: an unusual variant. J Assoc Physicians India. 1999 May;47(5):548-50.

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16.  Jacobs DA, Lesser RL, Mourelatos Z, et al. The Heidenhain variant of Creutzfeldt-Jakob disease: clinical, pathologic, and neuroimaging findings. J Neuroophthalmol. 2001 Jun;21(2):99-102.

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17.  Kropp S, Schulz-Schaeffer WJ, Finkenstaedt M, et al. The Heidenhain variant of Creutzfeldt-Jakob disease. Arch Neurol. 1999 Jan;56(1):55-61.

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18.  Poon MA, Stuckey S, Storey E. MRI evidence of cerebellar and hippocampal involvement in Creutzfeldt- Jakob disease. Neuroradiology. 2001 Sep;43(9):746-9.

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19.  Belay ED, Holman RC, Schonberger LB. Creutzfeldt-Jakob disease surveillance and diagnosis. Clin Infect Dis. 2005 Sep 15;41(6):834-6.

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20.  Laske C, Gefeller O, Pfahlberg A, et al. The effect of stress on the onset and progression of Creutzfeldt-Jakob disease: results of a German pilot case-control study. Eur J Epidemiol. 1999 Aug;15(7):631-5.

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21.  Will R. Variant Creutzfeldt-Jakob disease. Folia Neuropathol. 2004;42(suppl A):77-83.

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22.  Kovács GG, Puopolo M, Ladogana A, et al. Genetic prion disease: the EUROCJD experience. Hum Genet. 2005 Nov;118(2):166-74.

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23.  Parchi P, Giese A, Capellari S, et al. Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects. Ann Neurol. 1999 Aug;46(2):224-33.

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24.  Hamaguchi T, Noguchi-Shinohara M, Nozaki I, et al. The risk of iatrogenic Creutzfeldt-Jakob disease through medical and surgical procedures. Neuropathology. 2009 Oct;29(5):625-31.

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25.  Peretz D, Supattapone S, Giles K, et al. Inactivation of prions by acidic sodium dodecyl sulfate. J Virol. 2006 Jan;80(1):322-31.

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26.  Douet JY, Lacroux C, Aron N, et al. Distribution and quantitative estimates of variant Creutzfeldt-Jakob Disease prions in tissues of clinical and asymptomatic patients. Emerg Infect Dis. 2017 Jun;23(6):946-956.

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27.  Department of Health. Minimise transmission risk of CJD and vCJD in healthcare settings. August 2017. [internet publication].

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28.  Bruce ME, Will RG, Ironside JW, et al. Transmissions to mice indicate that 'new variant' CJD is caused by the BSE agent. Nature. 1997 Oct 2;389(6650):498-501.

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29.  Peden AH, Head MW, Ritchie DL, et al. Preclinical vCJD after blood transfusion in a PRNP codon 129 heterozygous patient. Lancet. 2004 Aug 7-13;364(9433):527-9.

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30.  Llewelyn CA, Hewitt PE, Knight RS, et al. Possible transmission of variant Creutzfeldt-Jakob disease by blood transfusion. Lancet. 2004 Feb 7;363(9407):417-21.

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31.  Wroe SJ, Pal S, Siddique D, et al. Clinical presentation and pre-mortem diagnosis of variant Creutzfeldt-Jakob disease associated with blood transfusion: a case report. Lancet. 2006 Dec 9;368(9552):2061-7.

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32.  Dorsey K, Zou S, Schonberger LB, et al. Lack of evidence of transfusion transmission of Creutzfeldt-Jakob disease in a US surveillance study. Transfusion. 2009 May;49(5):977-84.

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33.  Zou S, Fang CT, Schonberger LB. Transfusion transmission of human prion diseases. Transfus Med Rev. 2008 Jan;22(1):58-69.

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34.  Goold R, Rabbanian S, Sutton L, et al. Rapid cell-surface prion protein conversion revealed using a novel cell system. Nat Commun. 2011;2:281.

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35.  Norrby E. Prions and protein-folding diseases. J Intern Med. 2011 Jul;270(1):1-14.

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36.  Kretzschmar HA, Ironside JW, DeArmond SJ, et al. Diagnostic criteria for sporadic Creutzfeldt-Jakob disease. Arch Neurol. 1996 Sep;53(9):913-20.

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37.  Hill AF, Butterworth RJ, Joiner S, et al. Investigation of variant Creutzfeldt-Jakob disease and other human prion diseases with tonsil biopsy samples. Lancet. 1999 Jan 16;353(9148):183-9.

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38.  DeArmond SJ, Prusiner SB. Perspectives on prion biology, prion disease pathogenesis, and pharmacologic approaches to treatment. Clin Lab Med. 2003 Mar;23(1):1-41.

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39.  Freixes M, Rodriguez A, Dalfo E, et al. Oxidation, glycoxidation, lipoxidation, nitration, and responses to oxidative stress in the cerebral cortex in Creutzfeldt-Jakob disease. Neurobiol Aging. 2006 Dec;27(12):1807-15.

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40.  Bleich S, Kropp S, Degner D, et al. Creutzfeldt-Jakob disease and oxidative stress. Acta Neurol Scand. 2000 May;101(5):332-4.

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41.  Minghetti L, Pocchiari M. Cyclooxygenase-2, prostaglandin E2, and microglial activation in prion diseases. Int Rev Neurobiol. 2007;82:265-75.

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42.  Bouzamondo-Bernstein E, Hopkins SD, Spilman P, et al. The neurodegeneration sequence in prion diseases: evidence from functional, morphological and ultrastructural studies of the GABAergic system. J Neuropathol Exp Neurol. 2004 Aug;63(8):882-99.

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43.  DeArmond SJ, Sanchez H, Yehiely F, et al. Selective neuronal targeting in prion disease. Neuron. 1997 Dec;19(6):1337-48.

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44.  Prusiner SB, Groth D, Serban A, et al. Ablation of the prion protein (PrP) gene in mice prevents scrapie and facilitates production of anti-PrP antibodies. Proc Natl Acad Sci U S A. 1993 Nov 15;90(22):10608-12.

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45.  Bueler H, Aguzzi A, Sailer A, et al. Mice devoid of PrP are resistant to scrapie. Cell. 1993 Jul 2;73(7):1339-47.

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46.  Sailer A, Bueler H, Fischer M, et al. No propagation of prions in mice devoid of PrP. Cell. 1994 Jul 1;77(7):967-8.

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47.  Legname G, Baskakov IV, Nguyen HO, et al. Synthetic mammalian prions. Science. 2004 Jul 30;305(5684):673-6.

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48.  Makarava N, Kovacs GG, Bocharova O, et al. Recombinant prion protein induces a new transmissible prion disease in wild-type animals. Acta Neuropathol. 2010 Feb;119(2):177-87.

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49.  Prusiner SB. Detecting mad cow disease. Sci Am. 2004 Jul;291(1):86-93.

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50.  UK Health Protection Agency. Variant CJD and plasma products. January 2007. [internet publication].

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51.  Puopolo M, Ladogana A, Vetrugno V, et al. Transmission of sporadic Creutzfeldt-Jakob disease by blood transfusion: risk factor or possible biases. Transfusion. 2011 Jul;51(7):1556-66.

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52.  Creutzfeldt-Jakob Disease International Surveillance Network. CJD surveillance data 1993-2013. [internet publication].

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53.  Centers for Disease Control and Prevention. BSE (Bovine spongiform encephalopathy, or mad cow disease). August 2017. http://www.cdc.gov/ [internet publication].

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54.  World Organisation for Animal Health. Number of reported cases of bovine spongiform encephalopathy (BSE) in farmed cattle worldwide* (excluding the United Kingdom). 2017. [internet publication].

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55.  Scott MR, Will R, Ironside J, et al. Compelling transgenetic evidence for transmission of bovine spongiform encephalopathy prions to humans. Proc Natl Acad Sci US. 1999 Dec 21;96(26):15137-42.

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56.  Williams ES. Chronic wasting disease. Vet Pathol. 2005 Sep;42(5):530-49.

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57.  Waddell L, Greig J, Mascarenhas M, et al. Current evidence on the transmissibility of chronic wasting disease prions to humans: a systematic review. Transbound Emerg Dis. 2017 [Epub ahead of print].

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58.  Miller MW, Williams ES. Chronic wasting disease of cervids. Curr Top Microbiol Immunol. 2004;284:193-214.

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59.  Angers RC, Browning SR, Seward TS, et al. Prions in skeletal muscles of deer with chronic wasting disease. Science. 2006 Feb 24;311(5764):1117.

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60.  Mawhinney S, Pape WJ, Forster JE, et al. Human prion disease and relative risk associated with chronic wasting disease. Emerg Infect Dis. 2006 Oct;12(10):1527-35.

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61.  Lewis AM, Yu M, DeArmond SJ, et al. Human growth hormone-related iatrogenic Creutzfeldt-Jakob disease with abnormal imaging. Arch Neurol. 2006 Feb;63(2):288-90.

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62.  National Institute for Health and Care Excellence. Donor breast milk banks: the operation of donor milk bank services. February 2010. [internet publication].

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63.  Young GS, Geschwind MD, Fischbein NJ, et al. Diffusion-weighted and fluid-attenuated inversion recovery imaging in Creutzfeldt-Jakob disease: high sensitivity and specificity for diagnosis. AJNR Am J Neuroradiol. 2005 Jun-Jul;26(6):1551-62.

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64.  Zerr I, Kallenberg K, Summers DM, et al. Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease. Brain. 2009 Oct;132(Pt 10):2659-68.

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65.  Vitali P, Maccagnano E, Caverzasi E, et al. Diffusion-weighted MRI hyperintensity patterns differentiate CJD from other rapid dementias. Neurology. 2011 May 17;76(20):1711-9.

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66.  Groveman BR, Orrú CD1, Hughson AG, et al. Extended and direct evaluation of RT-QuIC assays for Creutzfeldt-Jakob disease diagnosis. Ann Clin Transl Neurol. 2016 Dec 27;4(2):139-144.

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67.  Geschwind MD, Jay C. Assessment of rapidly progressive dementias. Concise review related to chapter 362: Alzheimer disease and other primary dementias. In: Braunwald E, Harrison TR, Fauci AS, et al, eds. Harrison's principles of internal medicine. New York, NY: McGraw-Hill; 2001:2391-2398.

68.  Rabinovici GD, Wang PN, Levin J, et al. First symptom in sporadic Creutzfeldt-Jakob disease. Neurology. 2006 Jan 24;66(2):286-7.

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69.  Prusiner SB, Bosque PJ. Prion diseases. In: Braunwald E, Harrison TR, Fauci AS, et al, eds. Harrison's principles of internal medicine. New York, NY: McGraw-Hill; 2001:2486-2491.

70.  Collins S, McLean CA, Masters CL. Gerstmann-Sträussler-Scheinker syndrome,fatal familial insomnia, and kuru: a review of these less common human transmissible spongiform encephalopathies. J Clin Neurosci. 2001 Sep;8(5):387-97.

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71.  Gambetti P, Kong Q, Zou W, et al. Sporadic and familial CJD: classification and characterisation. Br Med Bull. 2003;66:213-39.

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72.  American College of Radiology. ACR appropriateness criteria: dementia and movement disorders. 2015. [internet publication].

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73.  Shiga Y, Miyazawa K, Sato S, et al. Diffusion-weighted MRI abnormalities as an early diagnostic marker for Creutzfeldt-Jakob disease. Neurology. 2004 Aug 10;63(3):443-9.

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74.  Finkenstaedt M, Szudra A, Zerr I, et al. MR imaging of Creutzfeldt-Jakob disease. Radiology. 1996 Jun;199(3):793-8.

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75.  Collie DA, Sellar RJ, Zeidler M, et al. MRI of Creuztfeldt-Jakob disease: imaging features and recommended MRI protocol. Clin Radiol. 2001 Sep;56(9):726-39.

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76.  Keohane C. Pulvinar sign on MRI images in variant Creutzfeldt-Jakob disease. Lancet. 2000 Apr 22;355(9213):1384.

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77.  Zeidler M, Sellar RJ, Collie DA, et al. The pulvinar sign on magnetic resonance imaging in variant Creutzfeldt- Jakob disease. Lancet. 2000 Apr 22;355(9213):1412-8.

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78.  Steinhoff BJ, Zerr I, Glatting M, et al. Diagnostic value of periodic complexes in Creutzfeldt-Jakob disease. Ann Neurol. 2004 Nov;56(5):702-8.

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79.  Chitravas N, Jung RS, Kofskey DM, et al. Treatable neurological disorders misdiagnosed as Creutzfeldt-Jakob disease. Ann Neurol. 2011 Sep;70(3):437-44.

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80.  Muayqil T, Gronseth G, Camicioli R. Evidence-based guideline: diagnostic accuracy of CSF 14-3-3 protein in sporadic Creutzfeldt-Jakob disease: report of the guideline development subcommittee of the American Academy of Neurology. Neurology. 2012 Oct 2;79(14):1499-506.

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81.  Tschampa HJ, Neumann M, Zerr I, et al. Patients with Alzheimer's disease and dementia with Lewy bodies mistaken for Creutzfeldt-Jakob disease. J Neurol Neurosurg Psychiatry. 2001 Jul;71(1):33-9.

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82.  Geschwind M, Haman A, Torres-Chae C, et al. CSF findings in a large United States sporadic CJD cohort. Neurology. 2007;68(suppl 1):A142.

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84.  de Priester JA, Jansen GH, de Kruijk JR, et al. New MRI findings in Creutzfeldt-Jakob disease: high signal in the globus pallidus on T1-weighted images. Neuroradiology. 1999 Apr;41(4):265-8.

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85.  Satoh J, Kurohara K, Yukitake M, et al. The 14-3-3 protein detectable in the cerebrospinal fluid of patients with prion-unrelated neurological diseases is expressed constitutively in neurons and glial cells in culture. Eur Neurol. 1999;41(4):216-25.

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86.  Satoh K, Shirabe S, Eguchi H, et al. 14-3-3 protein, total tau and phosphorylated tau in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease and neurodegenerative disease in Japan. Cell Mol Neurobiol. 2006 Feb;26(1):45-52.

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87.  Chapman T, McKeel DW Jr, Morris JC. Misleading results with the 14-3-3 assay for the diagnosis of Creutzfeldt-Jakob disease. Neurology. 2000 Nov 14;55(9):1396-7.

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