Creutzfeldt-Jakob disease with an M232R substitution: Report of a patient showing slowly progressive disease with abundant plaque-like PrP deposits in the cerebellum

Neuropathology

Volumn 29, Issue 6, 2009, Pages 735-743

  Shimizu, Hiroshi ^a   Yamada, Mitsunori ^a   Matsubara, Nae ^b   Takano, Hiroki ^a   Umeda, Yoshitaka ^a   Kawase, Yasuhiro ^c   Kitamoto, Tetsuyuki ^d   Nishizawa, Masatoyo ^a   Takahashi, Hitoshi ^a  

^a NIIGATA UNIVERSITY   (Japan)

^b NISHI NIIGATA CHUO NATIONAL HOSPITAL   (Japan)

^c Kawase Neurology Clinic   (Japan)

^d TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Creutzfeldt Jakob disease; M232R; Plaque like PrP deposits; PrP gene polymorphism; PrP Sc molecular type

Indexed keywords

PRION PROTEIN;

AGED; AGRAPHIA; AKINETIC MUTISM; ARTICLE; ASPIRATION PNEUMONIA; AUTOPSY; BRAIN CORTEX; CASE REPORT; CEREBELLUM CORTEX; CODON; CORPUS STRIATUM; CREUTZFELDT JAKOB DISEASE; DEATH; DEMENTIA; DISEASE COURSE; ELECTROENCEPHALOGRAM; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GLIOSIS; HOMOZYGOSITY; HUMAN; MALE; MEMORY DISORDER; MYOCLONUS; NEUROLOGIC EXAMINATION; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; PURKINJE CELL; SEPSIS; THALAMUS;

AGED; ATROPHY; BLOTTING, WESTERN; CEREBELLUM; CEREBRUM; CREUTZFELDT-JAKOB SYNDROME; DISEASE PROGRESSION; GLIOSIS; HUMANS; IMMUNOHISTOCHEMISTRY; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PRIONS;

EID: 70449651962     PISSN: 09196544     EISSN: 14401789     Source Type: Journal    
DOI: 10.1111/j.1440-1789.2009.01019.x     Document Type: Article

References (29)

1. Prusiner SB. Shattuck lecture-neurodegenerative diseases and prions. N Engl J Med 2001 344 : 1516 1526.
2. Parchi P, Castellani R, Capellari S et al. Molecular basis of phenotypic variability in sporadic Creutzfeldt-Jakob disease. Ann Neurol 1996 39 : 767 778.
3. Kovács GG, Puopolo M, Ladogana A et al. Genetic prion disease: the EUROCJD experience. Hum Genet 2005 118 : 166 174.
4. Yamada M. Prion diseases in Japan: analysis of 918 patients. Rinsho Shinkeigaku 2007 47 : 805 808 In Japanese with English abstract 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 : 709 714.
5. Hitoshi S, Nagura H, Yamanouchi H, Kitamoto T. Double mutations at codon 180 and codon 232 of the PRNP gene in an apparently sporadic case of Creutzfeldt-Jakob disease. J Neurol Sci 1993 120 : 208 212.
6. Shimizu T, Tanaka K, Tanahashi N, Fukuuchi Y, Kitamoto T. Creutzfeldt-Jakob disease with a point mutation at codon 232 of prion protein - a case report. Rinsho Shinkeigaku 1994 34 : 590 592 In Japanese with English abstract M, Hamda T, Okayama M, Muramoto T. Codon 232 point mutation in a patient with Creutzfeldt-Jakob disease. Dementia 1994 8 : 447 452 In Japanese T, Aihara Y, Shoji M, Hirai S. Familial Creutzfeldt-Jakob disease-a case with a point mutation at codon 232 of the PRNP gene. Dementia 1994 8 : 453 457 In Japanese K, Konno H, Sakuma R, Okita S, Takase S, Kitamoto T. Autopsy case of sporadic Creutzfeldt-Jakob disease with a point mutation at the codon 232 of prion protein gene. Neuropathology 1995 15 (Suppl 1A 6 Abstract in Japanese MZ, Kitamoto T, Furukawa H, Muramoto T, Tateishi J. Mutation in the prion protein gene at codon 232 in Japanese patients with Creutzfeldt-Jakob disease: a clinicopathological, immunohistochemical and transmission study. Acta Neuropathol 1996 92 : 441 446. (Pubitemid 24296026)
7. Satoh A, Goto H, Satoh H et al. A case of Creutzfeldt-Jakob disease with a point mutation at codon 232: correlation of MRI and neurologic findings. Neurology 1997 49 : 1469 1470.
8. Saito T, Isozumi K, Komatsumoto S, Nara M, Suzuki K, Dohura K. A case of codon 232 mutation-induced Creutzfeldt-Jakob disease visualized by the MRI-FLAIR images with atypical clinical symptoms. Rinsho Shinkeigaku 2000 40 : 51 54 In Japanese with English abstract A, Natsuno T, Suzuki M, Ono S, Shimizu N. Creutzfeldt-Jakob disease with codon 232 point mutatation and showing myoclonus and PSD in the early stage. A case report. Shinkeinaika 2001 54 : 161 165 In Japanese with English abstract C, Endo M, Nakajima T, Fukuhara N, Makifuchi T. An autopsy-proven case of Creutzfeldt-Jakob disease with a point mutation at codon 232 of the prion protein gene. Rinsho Shinkeigaku 2001 40 : 287 Abstract in Japanese, author's transl)
9. Satoh K, Muramoto T, Tanaka T et al. Association of an 11-12 kDa protease-resistant prion protein fragment with subtypes of dura graft-associated Creutzfeldt-Jakob disease and other prion diseases. J Gen Virol 2003 84 : 2885 2893.
10. Kanno S, Hasegawa T, Miyoshi T, Tateyama M, Shiga Y, Itoyama Y. Familial Creutzfeldt-Jakob disease with a point mutation at codon 232 showing relatively long disease duration. Rinsho Shinkeigaku 2005 45 : 70 Abstract in Japanese, author's transl T, Niwa H, Iwasaki Y, Yoshida M, Hashizume Y, Murakami N. An autopsied case of Creutzfeldt-Jakob disease with mutation in the prion protein gene at codon 232. Neuropahtology 2007 27 (Suppl P-III-D03.
11. Shiga Y, Satoh K, Kitamoto T et al. Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitution. J Neurol 2007 254 : 1509 1517.
12. Kitamoto T, Shin RW, Doh-ura K 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 1294.
13. Asano M, Mohri S, Ironside JW, Ito M, Tamaoki N, Kitamoto T. vCJD prion acquires altered virulence through trans-species infection. Biochem Biophys Res Commun 2006 342 : 293 299.
14. Kascsak RJ, Rubenstein R, Merz PA et al. Mouse polyclonal and monoclonal antibody to scrapie-associated fibril proteins. J Virol 1987 61 : 3688 3693.
15. Muramoto T, Tanaka T, Kitamoto N et al. Analyses of Gerstmann-Straussler syndrome with 102Leu219Lys using monoclonal antibodies that specifically detect human prion protein with 219Glu. Neurosci Lett 2000 288 : 179 182.
16. Kitamoto T, Muramoto T, Mohri S, Doh-Ura K, Tateishi J. Abnormal isoform of prion protein accumulates in follicular dendritic cells in mice with Creutzfeldt-Jakob disease. J Virol 1991 65 : 6292 6295.
17. Kitamoto T, Tateishi J. Human prion diseases with variant prion protein. Philos Trans R Soc Lond B Biol Sci 1994 343 : 391 398.
18. Tashima T, Kitamoto T, Tateishi J, Sato Y. Congophilia in cerebral amyloidosis is modified by inactivation procedures on slow transmissible pathogens. Brain Res 1986 399 : 80 86.
19. Nozaki I, Hamaguchi T, Noguchi-Shinohara M et al. The MM2-cortical form of sporadic Creutzfeldt-Jakob disease presenting with visual disturbance. Neurology 2006 67 : 531 533.
20. Niimi Y, Iwasaki Y, Umemura T et al. MM2-cortical-type sporadic Creutzfeldt-Jakob disease with early stage cerebral cortical pathology presenting with a rapidly progressive clinical course. Neuropathology 2008 28 : 645 651.
21. Hamaguchi T, Kitamoto T, Sato T et al. Clinical diagnosis of MM2-type sporadic Creutzfeldt-Jakob disease. Neurology 2005 64 : 643 648.
22. Krasnianski A, Meissner B, Schulz-Schaeffer W et al. Clinical features and diagnosis of the MM2 cortical subtype of sporadic Creutzfeldt-Jakob disease. Arch Neurol 2006 63 : 876 880.
23. Kawasaki 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 1997 94 : 317 322.
24. Yamashita M, Yamamoto T, Nishinaka K, Udaka F, Kameyama M, Kitamoto T. Severe brain atrophy in a case of thalamic variant of sporadic CJD with plaque-type PrP deposition. Neuropathology 2001 21 : 138 143.
25. Sc deposits in the brain. Neuropathology 2005 25 : 144 149.
26. Hirose K, Iwasaki Y, Izumi M et al. MM2-thalamic-type sporadic Creutzfeldt-Jakob disease with widespread neocortical pathology. Acta Neuropathol 2006 112 : 503 511.
27. Iwasaki Y, Yoshida M, Hashizume Y, Kitamoto T, Sobue G. Clinicopathologic characteristics of sporadic Japanese Creutzfeldt-Jakob disease classified according to prion protein gene polymorphism and prion protein type. Acta Neuropathol 2006 112 : 561 571.
28. Kovács GG, Head MW, Hegyi I et al. Immunohistochemistry for the prion protein: comparison of different monoclonal antibodies in human prion disease subtypes. Brain Pathol 2002 12 : 1 11.
29. Jarius C, Kovacs GG, Belay G, Hainfellner JA, Mitrova E, Budka H. Distinctive cerebellar immunoreactivity for the prion protein in familial (E200K) Creutzfeldt-Jakob disease. Acta Neuropathol 2003 105 : 449 454.