Prospective 10-year surveillance of human prion diseases in Japan

Brain

Volumn 133, Issue 10, 2010, Pages 3043-3057

  Nozaki, Ichiro ^a,b   Hamaguchi, Tsuyoshi ^a   Sanjo, Nobuo ^c,d   Noguchi Shinohara, Moeko ^a   Sakai, Kenji ^a   Nakamura, Yosikazu ^d,e   Sato, Takeshi ^d,f   Kitamoto, Tetsuyuki ^d,g   Mizusawa, Hidehiro ^c,d   Moriwaka, Fumio ^d,h   Shiga, Yusei ^d,i   Kuroiwa, Yoshiyuki ^d,j   Nishizawa, Masatoyo ^d,k   Kuzuhara, Shigeki ^d,l   Inuzuka, Takashi ^d,m   Takeda, Masatoshi ^d,n   Kuroda, Shigetoshi ^d,o   Abe, Koji ^d,o   Murai, Hiroyuki ^d,p   Murayama, Shigeo ^d,q   Tateishi, Jun ^d,r   Takumi, Ichiro ^d,s   Shirabe, Susumu ^d,t   Harada, Masafumi ^d,u   Sadakane, Atsuko ^e   Yamada, Masahito ^a,d   more..

^a KANAZAWA UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCE   (Japan)

^b Noto General Hospital   (Japan)

^c TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^d Creutzfeldt Jakob Disease Surveillance Committee ^*  (Japan)

^e JICHI MEDICAL UNIVERSITY   (Japan)

^f Higashi Yamato Hospital   (Japan)

^g TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^h HEALTH SCIENCES UNIVERSITY OF HOKKAIDO   (Japan)

ⁱ Aoba Neurosurgical Clinic   (Japan)

^j YOKOHAMA CITY UNIVERSITY   (Japan)

^k NIIGATA UNIVERSITY   (Japan)

^l National Center Hospital of Neurology and Psychiatry   (Japan)

^m GIFU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

ⁿ OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^o OKAYAMA UNIVERSITY   (Japan)

^p ASO IIZUKA HOSPITAL   (Japan)

^q TOKYO METROPOLITAN INSTITUTE OF GERONTOLOGY   (Japan)

^r Harukaze Healthcare Service Institution   (Japan)

^s NIPPON MEDICAL SCHOOL MUSASHI KOSUGI HOSPITAL   (Japan)

^t NAGASAKI UNIVERSITY   (Japan)

^u UNIVERSITY OF TOKUSHIMA   (Japan)

more..

Author keywords

14 3 3 protein; codon 129 or 219 polymorphism; dura mater graft associated Creutzfeldt Jakob disease; periodic synchronous wave complexes; prion disease

Indexed keywords

METHIONINE; PRION PROTEIN; PRION;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; CODON; CONTROLLED STUDY; CREUTZFELDT JAKOB DISEASE; DISEASE CLASSIFICATION; DISEASE SURVEILLANCE; DURA MATER; DURA MATER GRAFT ASSOCIATED CREUTZFELDT JAKOB DISEASE; EUROPE; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC DISORDER; GENETIC POLYMORPHISM; HOMOZYGOSITY; HUMAN; IATROGENIC CREUTZFELDT JAKOB DISEASE; INCIDENCE; JAPAN; JAPANESE; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRION DISEASE; PRIORITY JOURNAL; PROSPECTIVE STUDY; SPORADIC CREUTZFELDT JAKOB DISEASE; VARIANT CREUTZFELDT JAKOB DISEASE; ANALYSIS OF VARIANCE; BRAIN; CHI SQUARE DISTRIBUTION; GENETICS; HEALTH SURVEY; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PRION; PRION DISEASES; WESTERN BLOTTING;

ANALYSIS OF VARIANCE; BLOTTING, WESTERN; BRAIN; CHI-SQUARE DISTRIBUTION; FEMALE; HUMANS; JAPAN; MAGNETIC RESONANCE IMAGING; MALE; POPULATION SURVEILLANCE; PRION DISEASES; PRIONS; PROSPECTIVE STUDIES;

EID: 77957680268     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awq216     Document Type: Article

References (61)

1. Belay ED, Schonberger LB. The public health impact of prion diseases. Annu Rev Public Health 2005; 26: 191-212.
2. Brandel JP, Heath CA, Head MW, Levavasseur E, Knight R, Laplanche JL, et al. Variant Creutzfeldt-Jakob disease in France and the United Kingdom: evidence for the same agent strain. Ann Neurol 2009; 65: 249-56.
3. Bratosiewicz J, Liberski PP, Kulczycki J, Kordek R. Codon 129 polymorphism of the PRNP gene in normal Polish population and in Creutzfeldt-Jakob disease, and the search for new mutations in PRNP gene. Acta Neurobiol Exp 2001; 61: 151-6.
4. Brown P, Brandel JP, Preece M, Sato T. Iatrogenic Creutzfeldt-Jakob disease: the waning of an era. Neurology 2006; 67: 389-93.
5. Choi BY, Kim SY, Seo SY, An SS, Kim S, Park SE, et al. Mutations at codons 178, 200-129, and 232 contributed to the inherited prion diseases in Korean patients. BMC Infect Dis 2009; 9: 132.
6. Collinge J, Palmer MS, Dryden AJ. Genetic predisposition to iatrogenic Creutzfeldt-Jakob disease. Lancet 1991; 337: 1441-2.
7. Collins S, Boyd A, Lee JS, Lewis V, Fletcher A, McLean CA, et al. Creutzfeldt-Jakob disease in Australia 1970-1999. Neurology 2002; 59: 1365-71.
8. Collins SJ, Sanchez-Juan P, Masters CL, Klug GM, van Duijn C, Poleggi A, et al. Determinants of diagnostic investigation sensitivities across the clinical spectrum of sporadic Creutzfeldt-Jakob disease. Brain 2006; 129: 2278-87.
9. de Pedro-Cuesta J, Glatzel M, Almazán J, Stoeck K, Mellina V, Puopolo M, et al. Human transmissible spongiform encephalopathies in eleven countries: diagnostic pattern across time, 1993-2002. BMC Public Health 2006; 6: 278.
10. Doh-ura K, Kitamoto T, Sakaki Y, Tateishi J. CJD discrepancy. Nature 1991; 353: 801-2.
11. Dyrbye H, Broholm H, Dziegiel MH, Laursen H. The M129V polymorphism of codon 129 in the prion gene (PRNP) in the Danish population. Eur J Epidemiol 2008; 23: 23-7.
12. Georgsson G, Tryggvason T, Jonasdottir AD, Gudmundsson S, Thorgeirsdottir S. Polymorphism of PRNP codons in the normal Icelandic population. Acta Neurol Scand 2006; 113: 419-25.
13. Glatzel M, Rogivue C, Ghani A, Streffer JR, Amsler L, Aguzzi A. Incidence of Creutzfeldt-Jakob disease in Switzerland. Lancet 2002; 360: 139-41.
14. Hamaguchi T, Kitamoto T, Sato T, Mizusawa H, Nakamura Y, Noguchi M, et al. Clinical diagnosis of MM2-type sporadic Creutzfeldt-Jakob disease. Neurology 2005; 64: 643-8.
15. Hamaguchi T, Noguchi-Shinohara M, Nozaki I, Nakamura Y, Sato T, Kitamoto T, et al. Medical procedures and risk for sporadic Creutzfeldt-Jakob disease, Japan, 1999-2008. Emerg Infect Dis 2009a; 15: 265-71.
16. Hamaguchi T, Noguchi-Shinohara M, Nozaki I, Nakamura Y, Sato T, Kitamoto T, et al. The risk of iatrogenic Creutzfeldt-Jakob disease through medical and surgical procedures. Neuropathology 2009b; 29: 625-31.
17. Heinemann U, Krasnianski A, Meissner B, Varges D, Kallenberg K, Schulz-Schaeffer WJ, et al. Creutzfeldt-Jakob disease in Germany: a prospective 12-year surveillance. Brain 2007; 130: 1350-9.
18. Holman RC, Belay ED, Christensen KY, Maddox RA, Minino AM, Folkema AM, et al. Human prion diseases in the United States. PLoS One 2010; 5: e8521.
19. Horan G, Keohane C, Molloy S, Howley R, Harney M, Heffernan J, et al. Creutzfeldt-Jakob disease in Ireland: epidemiological aspects 1980-2002. Eur Neurol 2004; 51: 132-7.
20. Jeong BH, Nam JH, Lee YJ, Lee KH, Jang MK, Carp RI, et al. Polymorphisms of the prion protein gene (PRNP) in a Korean population. J Hum Genet 2004; 49: 319-24.
21. Jeong BH, Lee KH, Kim NH, Jin JK, Kim JI, Carp RI, et al. Association of sporadic Creutzfeldt-Jakob disease with homozygous genotypes at PRNP codons 129 and 219 in the Korean population. Neurogenetics 2005; 6: 229-32.
22. Jin K, Shiga Y, Shibuya S, Chida K, Sato Y, Konno H, et al. Clinical features of Creutzfeldt-Jakob disease with V180I mutation. Neurology 2004; 62: 502-5.
23. Kitamoto T, Ohta M, Doh-ura K, Hitoshi S, Terao Y, Tateishi J. Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome. Biochem Biophys Res Commun 1993; 191: 709-14.
24. Kitamoto T, Shin RW, Doh-ura K, Tomokane N, Miyazono M, Muramoto T, et al. Abnormal isoform of prion proteins accumulates in the synaptic structures of the central nervous system in patients with Creutzfeldt-Jakob disease. Am J Pathol 1992; 140: 1285-94.
25. Kitamoto T, Tateishi J. Human prion diseases with variant prion protein. Philos Trans R Soc Lond B Biol Sci 1994; 343: 391-8.
26. Klug GM, Boyd A, Lewis V, McGlade A, Stehmann C, Masters CL, et al. Surveillance of Creutzfeldt-Jakob disease in Australia: 2009 update. Commun Dis Intell 2009; 33: 188-91.
27. Kovács GG, Puopolo M, Ladogana A, Pocchiari M, Budka H, van Duijn C, et al. EUROCJD. Genetic prion disease: the EUROCJD experience. Hum Genet 2005; 118: 166-74.
28. Krasnianski A, Meissner B, Schulz-Schaeffer W, Kallenberg K, Bartl M, Heinemann U, et al. Clinical features and diagnosis of the MM2 cortical subtype of sporadic Creutzfeldt-Jakob disease. Arch Neurol 2006; 63: 876-80.
29. Ladogana A, Puopolo M, Croes EA, Budka H, Jarius C, Collins S, et al. Mortality from Creutzfeldt-Jakob disease and related disorders in Europe, Australia, and Canada. Neurology 2005; 64: 1586-91.
30. Masters CL, Harris JO, Gajdusek DC, Gibbs CJ Jr, Bernoulli C, Asher DM. Creutzfeldt-Jakob disease: patterns of worldwide occurrence and the significance of familial and sporadic clustering. Ann Neurol 1979; 5: 177-88.
31. Mitrová E, Mayer V, Jovankovièová V, Slivarichová D, Wsólová L. Creutzfeldt-Jakob disease risk and PRNP codon 129 polymorphism: necessity to revalue current data. Eur J Neurol 2005; 12: 998-1001.
32. Mutsukura K, Satoh K, Shirabe S, Tomita I, Fukutome T, Morikawa M, et al. Familial Creutzfeldt-Jakob disease with a V180I mutation: comparative analysis with pathological findings and diffusion-weighted images. Dement Geriatr Cogn Disord 2009; 28: 550-7.
33. Nakamura Y, Yanagawa H, Hoshi K, Yoshino H, Urata J, Sato T. Incidence rate of Creutzfeldt-Jakob disease in Japan. Int J Epidemiol 1999; 28: 130-4.
34. Nakamura Y, Uehara R, Watanabe M, Sadakane A, Yamada M, Mizusawa H, et al. CDC. Update: Creutzfeldt-Jakob disease associated with cadaveric dura mater grafts-Japan, 1978-2008. MMWR Morb Mortal Wkly Rep 2008; 57: 1152-4.
35. Noguchi-Shinohara M, Hamaguchi T, Kitamoto T, Sato T, Nakamura Y, Mizusawa H, et al. Clinical features and diagnosis of dura mater graft associated Creutzfeldt Jakob disease. Neurology 2007; 69: 360-7.
36. Nurmi MH, Bishop M, Strain L, Brett F, McGuigan C, Hutchison M, et al. The normal population distribution of PRNP codon 129 polymorphism. Acta Neurol Scand 2003; 108: 374-8.
37. Ohkubo T, Sakasegawa Y, Asada T, Kinoshita T, Goto Y, Kimura H, et al. Absence of association between codon 129/219 polymorphisms of the prion protein gene and Alzheimer's disease in Japan. Ann Neurol 2003; 54: 553-4.
38. Palmer MS, Dryden AJ, Hughes JT, Collinge J. Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease. Nature 1991; 352: 340-2.
39. Parchi P, Giese A, Capellari S, Brown P, Schulz-Schaeffer W, Windl O, et al. Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects. Ann Neurol 1999; 46: 224-33.
40. Pocchiari M, Puopolo M, Croes EA, Budka H, Gelpi E, Collins S, et al. Predictors of survival in sporadic Creutzfeldt-Jakob disease and other human transmissible spongiform encephalopathies. Brain 2004; 127: 2348-59.
41. Prusiner SB. Prions. Proc Natl Acad Sci USA 1998; 95: 13363-83.
42. Puopolo M, Ladogana A, Almonti S, Daude N, Bevivino S, Petraroli R, et al. Mortality trend from sporadic Creutzfeldt-Jakob disease (CJD) in Italy, 1993-2000. J Clin Epidemiol 2003; 56: 494-9.
43. Sanchez-Valle R, Nos C, Yagüe J, Graus F, Dom?́nguez A, Saiz A. Catalan Collaborative Study Group for CJD. Clinical and genetic features of human prion diseases in Catalonia: 1993-2002. Eur J Neurol 2004; 11: 649-55.
44. Sato T, Hoshi K, Yoshino H, Urata J, Nakamura Y, Yanagawa H, et al. Centers for Disease Control and Prevention (CDC). Creutzfeldt-Jakob disease associated with cadaveric dura mater grafts-Japan, January 1979-May 1996. MMWR Morb Mortal Wkly Rep 1997; 46: 1066-9.
45. Satoh K, Shirabe S, Eguchi H, Tsujino A, Eguchi K, Satoh A, 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; 26: 45-52.
46. Shi Q, Gao C, Zhou W, Zhang BY, Chen JM, Tian C, et al. Surveillance for Creutzfeldt-Jakob disease in China from 2006 to 2007. BMC Public Health 2008; 8: 360.
47. Shibuya S, Higuchi J, Shin RW, Tateishi J, Kitamoto T. Codon 219 Lys allele of PRNP is not found in sporadic Creutzfeldt-Jakob disease. Ann Neurol 1998; 43: 826-8.
48. Shiga Y, Satoh K, Kitamoto T, Kanno S, Nakashima I, Sato S, et al. Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitution. J Neurol 2007; 254: 1509-17.
49. Shimizu S, Hoshi K, Muramoto T, Homma M, Ironside JW, Kuzuhara S, et al. Creutzfeldt-Jakob disease with florid-type plaques after cadaveric dura mater grafting. Arch Neurol 1999; 56: 357-62.
50. Statistics and Information Department, Ministers Secretariat Ministry of Health Labour and Welfare. Vital Statistics of Japan-2008. Tokyo: Health and Welfare Statistics Association; 2009.
51. Takahashi H, Iwata T, Kitagawa Y, Takahashi RH, Sato Y, Wakabayashi H, et al. Increased levels of epsilon and gamma isoforms of 14-3-3 proteins in cerebrospinal fluid in patients with Creutzfeldt-Jakob disease. Clin Diagn Lab Immunol 1999; 6: 983-5.
52. Van Everbroeck B, Michotte A, Sciot R, Godfraind C, Deprez M, Quoilin S, et al. Increased incidence of sporadic Creutzfeldt-Jakob disease in the age groups between 70 and 90 years in Belgium. Eur J Epidemiol 2006; 21: 443-7.
53. WHO. Global surveillance, diagnosis and therapy of human transmissible spongiform encephalopathies. Report of a WHO consultation; Geneva; 9-11 February 1998. (http://www.who.int/csr/resources/publications/bse/WHO-EMC-ZDI-98-9/en/).
54. WHO. The revision of the surveillance case definition for variant Creutzfeldt-Jakob disease (vCJD). Report of a WHO consultation; Edinburgh; 17 May 2001. (http://www.who.int/csr/resources/publica-tions/bse/WHO-CDS-CSR-EPH- 2001-5/en/).
55. Will RG, Alperovitch A, Poser S, Pocchiari M, Hofman A, Mitrova E, et al. Descriptive epidemiology of Creutzfeldt-Jakob disease in six European countries, 1993-1995. EU Collaborative Study Group for CJD. Ann Neurol 1998; 43: 763-7.
56. Will RG, Ward HJ. Clinical features of variant Creutzfeldt-Jakob disease. Curr Top Microbiol Immunol 2004; 284: 121-32.
57. Yamada M, Variant CJD. Working Group, Creutzfeldt-Jakob Disease Surveillance Committee, Japan. The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram. Lancet 2006; 367: 874.
58. Yamada M, Noguchi-Shinohara M, Hamaguchi T, Nozaki I, Kitamoto T, Sato T, et al. Dura mater graft-associated Creutzfeldt-Jakob disease in Japan: clinicopathological and molecular characterization of the two distinct subtypes. Neuropathology 2009; 29: 609-18.
59. Yu SL, Jin L, Sy MS, Mei FH, Kang SL, Sun GH, et al. Polymorphisms of the PRNP gene in Chinese populations and the identification of a novel insertion mutation. Eur J Hum Genet 2004; 12: 867-70.
60. Zheng L, Longfei J, Jing Y, Xinqing Z, Haiqing S, Haiyan L, et al. PRNP mutations in a series of apparently sporadic neurodegenerative dementias in China. Am J Med Genet B Neuropsychiatr Genet 2008; 147B: 938-44.
61. Zimmermann K, Turecek PL, Schwarz HP. Genotyping of the prion protein at codon 129. Acta Neuropathol 1999; 97: 355-8.