An autopsied case of panencephalopathic-type Creutzfeldt-Jakob disease with mutation in the prion protein gene at codon 232 and type 1 prion protein

Neuropathology

Volumn 29, Issue 6, 2009, Pages 727-734

  Hama, Tetsuo ^a   Iwasaki, Yasushi ^a   Niwa, Hisayoshi ^b   Yoshida, Mari ^c   Hashizume, Yoshio ^c   Kitamoto, Tetsuyuki ^d   Murakami, Nobuyuki ^b   Sobue, Gen ^a  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Kariya Toyota General Hospital   (Japan)

^c AICHI MEDICAL UNIVERSITY   (Japan)

^d TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Codon 232; Creutzfeldt Jakob disease; MM1 type; Panencephalopathic type; Prion protein gene

Indexed keywords

ARGININE; METHIONINE; NEURON SPECIFIC ENOLASE; PRION PROTEIN; PROTEIN 14 3 3;

AGED; AKINETIC MUTISM; AMINO ACID SUBSTITUTION; ARTICLE; ASTROCYTOSIS; ATAXIA; AUTOPSY; BABINSKI REFLEX; BASAL GANGLION; BRADYKINESIA; BRAIN ATROPHY; BRAIN VENTRICLE DILATATION; CASE REPORT; CEREBELLUM; CEREBRAL BLINDNESS; CEREBROSPINAL FLUID ANALYSIS; CODON; CONSCIOUSNESS DISORDER; CREUTZFELDT JAKOB DISEASE; DEATH; DEMENTIA; DIFFUSION WEIGHTED IMAGING; DISEASE COURSE; DISORIENTATION; DYSPHAGIA; ELECTROENCEPHALOGRAM; FRONTAL CORTEX; GENE MUTATION; GENOTYPE; GRAY MATTER; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MEMORY DISORDER; MENTAL DETERIORATION; MYOCLONUS; NEOCORTEX; NERVE CELL; OCCIPITAL CORTEX; PATHOLOGICAL CRYING; PHENOTYPE; PNEUMONIA; PRIORITY JOURNAL; RESPIRATORY FAILURE; TEMPORAL CORTEX; WHITE MATTER;

ATROPHY; BLOTTING, WESTERN; BRAIN; CREUTZFELDT-JAKOB SYNDROME; GLIOSIS; HUMANS; IMMUNOHISTOCHEMISTRY; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NERVE DEGENERATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIONS;

EID: 70449686028     PISSN: 09196544     EISSN: 14401789     Source Type: Journal    
DOI: 10.1111/j.1440-1789.2009.01016.x     Document Type: Article

References (23)

1. DeArmond SJ, Kretzschmar HA, Prusiner SB. Prion disease. In : Graham DI, Lantos PL (eds) Greenfield's Neuropathology. Vol. 2, 7th edn. London : Hodder Arnold, 2002 273 324.
2. Masters CL, Harris JO, Gajdusek DC. Creutzfeldt-Jakob disease: patterns of worldwide occurrence and the significance of familial and sporadic clustering. Ann Neurol 1977 5 : 177 188.
3. Gambetti P, Kong Q, Zou W, Parchi P, Chen SG. Sporadic and familial CJD: classification and characterization. Br Med Bull 2003 66 : 213 239.
4. Kitamoto T, Tateishi J. Human prion diseases with variant prion protein. Philos Trans R Soc Lond B Biol Sci 1994 343 : 391 398.
5. Oesch B, Westaway D, Walchli M et al. A cellular gene encodes scrapie PrP 27-30 protein. Cell 1985 40 : 735 746.
6. Prusiner SB. Molecular biology of prion diseases. Science 1991 252 : 1515 1522.
7. Brown P. The phenotypic expression of different mutations in human transmissible spongiform encephalopathy. Rev Neurol (Paris) 1992 148 : 317 327.
8. Iwasaki Y, Sone M, Kato T et al. Clinicopathological characteristics of Creutzfeldt-Jakob disease with a PrP V180I mutation and M129V polymorphism on different alleles. Rinsho Shinkeigaku 1999 39 : 800 806 In Japanese with English abstract K, Tateishi J, Sasaki H, Kitamoto T, Sasaki Y. Pro-Leu change at position 102 of prion protein is the most common but not the sole mutation related to Gerstmann-Sträussler syndrome. Biochem Biophys Res Commun 1989 163 : 974 979.
9. Goldfarb LG, Brown P, McCombie WR et al. Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene. Proc Natl Acad Sci USA 1991 88 : 10926 10930.
10. Kitamoto T, Ohta M, Doh-ura K, Hitoshi S, Terao Y, Tateishi J. Novel missence variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome. Biochem Biophys Res Commun 1993 191 : 709 714.
11. Kretzschmar HA, Stowring LE, Westaway D, Stubblebine WH, Prusiner SB, DeArmond SJ. Molecular cloning of a human prion protein cDNA. DNA 1986 5 : 315 324.
12. 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.
13. 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 46 : 224 233.
14. 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 (Berl) 2006 112 : 561 571.
15. Hoque 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 (Berl) 1996 92 : 441 446.
16. Hitoshi N, Nagura H, Yamanouchi H, Kitamoto T. Double mutations at codon 180 and 232 of the PRNP gene in an apparently sporadic case of Creutzfeldt-Jakob disease. J Neurol Sci 1993 120 : 208 212.
17. 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, 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.
18. 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 A, Natsuno T, Suzuki M, Ono S, Shimizu N. Creutzfeldt-Jakob disease with codon 232 point mutation and showing myoclonus and PSD in the early stage. A case report. Neurol Med (Tokyo) 2001 54 : 161 165 In Japanese with English abstract T, Aihara Y, Shoji M, Hirai S. Codon 232 point mutation in a patient with Creutzfeldt-Jakob disease - a case with the point mutation at codon 232 of the PRNP gene. Dementia (Tokyo) 1994 8 : 453 457 In Japanese M, Hamada T, Okayama M, Muramoto T. Familial Creutzfeldt-Jakob disease - a case with the point mutation. Dementia (Tokyo) 1994 8 : 447 452 In Japanese T, Shin RW, Doh-ura K, Tomokane N, Miyazono M, Tateishi J. 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. (Pubitemid 24296026)
19. Iwasaki Y, Mimuro M, Yoshida M, Hashizume Y, Kitamoto T, Sobue G. Clinicopathologic characteristics of five autopsied cases of dura mater-associated Creutzfeldt-Jakob disease. Neuropathology 2008 28 : 51 61.
20. Iwasaki Y, Hashizume Y, Yoshida M, Kitamoto T, Sobue G. Neuropathologic characteristics of brainstem lesions in sporadic Creutzfeldt-Jakob disease. Acta Neuropathol (Berl) 2005 109 : 557 566. (Pubitemid 40974144)
21. Hamaguchi T, Kitamoto T, Sato T et al. Clinical diagnosis of MM2-type sporadic Creutzfeldt-Jakob disease. Neurology 2005 64 : 643 648.
22. Satoh K, Muramoto T, Tanaka T et al. Association of an 11-12 kDa protease-resistant prion protein fragment with subtypes of dura graftassociated Creutzfeldt-Jakob disease and other prion diseases. J Gen Virol 2003 84 : 2885 2893.
23. Mizutani T, Okumura A, Oda M, Shiraki H. Panencephalopathic type of Creutzfeldt-Jakob disease: primary involvement of the cerebral white matter. J Neurol Neurosurg Psychiatry 1981 44 : 103 115.