Genetic Creutzfeldt-Jakob disease-M232R with the cooccurrence of multiple prion strains, M1 + M2C + M2T: Report of an autopsy case.
M232R substitution
MM2 type
genetic Creutzfeldt-Jakob disease
multiple prion strains
prion strain M2T
Journal
Neuropathology : official journal of the Japanese Society of Neuropathology
ISSN: 1440-1789
Titre abrégé: Neuropathology
Pays: Australia
ID NLM: 9606526
Informations de publication
Date de publication:
Jun 2021
Jun 2021
Historique:
revised:
20
08
2020
received:
24
06
2020
accepted:
07
09
2020
pubmed:
16
2
2021
medline:
26
11
2021
entrez:
15
2
2021
Statut:
ppublish
Résumé
Genetic Creutzfeldt-Jakob disease (gCJD) with a methionine to arginine substitution at codon 232 of the prion protein gene (gCJD-M232R) is rare and has only been reported in Japan. We report an autopsy case of gCJD-M232R showing alleles of codon 129 that were homozygous for methionine and the presence of multiple strains of the protease-resistant, abnormal isoform of prion protein (PrP
Substances chimiques
PrPSc Proteins
0
Methionine
AE28F7PNPL
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
206-213Informations de copyright
© 2021 Japanese Society of Neuropathology.
Références
Nozaki I, Hamaguchi T, Sanjo N et al. Prospective 10-year surveillance of human prion diseases in Japan. Brain 2010; 133: 3043-3057.
Minikel EV, Vallabh SM, Lek M et al. Quantifying penetrance in a dominant disease gene using large population control cohorts. Sci Transl Med 2016; 8: 322ra9.
Shiga Y, Satoh A, Satoh K et al. Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitution. J Neurol 2007; 254: 1509-1517.
Capellari S, Strammiello R, Saverioni D, Kretzschmar H, Parchi P. Genetic Creutzfeldt-Jakob disease and fatal familial insomnia. Insights into phenotypic variability and disease pathogenesis. Acta Neuropathol 2011; 121: 21-37.
Kovacs GG, Seguin J, Quadrio I et al. Genetic Creutzfeldt-Jakob disease associated with the E200K mutation. Characterization of a complex proteinopathy. Acta Neuropathol 2011; 121: 39-57.
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: 709-714.
Ohkuma M, Hamada T, Okayama M, Muramoto T. Codon 232 point mutation in a patient with Creutzfeldt-Jakob disease. Dementia 1994; 8: 447-452.
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 1996; 92: 441-446.
Hama T, Iwasaki Y, Niwa H et al. 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 2009; 29: 727-734.
Shimizu H, Yamada M, Matsubara N et al. 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 2009; 29: 735-743.
Shimizu H, Kosaka T, Aoyama M, Kitamoto T, Takahashi H. Creutzfeldt-Jakob disease with an M232R substitution. Report of a patient showing severe thalamic involvement and abundant plaque-like PrP deposits in the cerebrum. Neuropathology 2011; 31: (Suppl.)331.
Iwasaki Y, Yokoi F, Tatsumi S et al. An autopsied case of Creutzfeldt-Jakob disease with mutation in the prion protein gene codon 232 and type 1+2 prion protein. Neuropathology 2013; 33: 568-575.
Akagi A, Iwasaki Y, Hashimoto R et al. A case of M232R genetic Creutzfeldt-Jakob disease with Lewy bodies. J Neurol Sci 2020; 409: 116605.
Takeuchi A, Mohri S, Kai H et al. Two distinct prions in fatal familial insomnia and its sporadic form. Brain Commun 2019; 1: 1-10. https://doi.org/10.1093/braincomms/fcz045
Shintaku M, Nakamura T, Kaneda D, Shinde A, Kusaka H, Kitamoto T. An autopsy case of familial Creutzfeldt-Jakob disease with a mutation of codon 232 (M232R) of the prion gene. Neuropathology 2009; 29: (Suppl.)200.
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-Jacob disease. Am J Pathol 1992; 140: 1285-1294.
Kobayashi A, Mizukoshi K, Iwasaki Y, Miyata H, Yoshida Y, Kitamoto T. Co-occurrence of types 1 and 2 PrPres in sporadic Creutzfeldt-Jakob disease MM1. Am J Pathol 2011; 178: 1309-1315.
Beck J, Collinge J, Mead S. Prion protein gene M232R variation is probably an uncommon polymorphism rather than a pathogenic mutation. Brain 2012; 135: e209.
Koide T, Ohtake H, Nakajima T et al. A patient with dementia with Lewy bodies and codon 232 mutation of PRNP. Neurology 2002; 59: 1619-1621.
Nozaki I, Sakai K, Kitamoto T, Yamada M. Reply: Prion protein gene M232R variation is probably an uncommon polymorphism rather than a pathogenic mutation. Brain 2012; 135: e210.
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.
Parchi P, Strammiello R, Giese A, Kretzschmar H. Phenotypic variability of sporadic human prion disease and its molecular basis. Past, present, and future. Acta Neuropathol 2011; 121: 91-112.
Parchi P, Strammiello R, Notari S et al. Incidence and spectrum of sporadic Creutzfeldt-Jakob disease variants with mixed phenotype and co-occurrence of PrPSc types. An updated classification. Acta Neuropathol 2009; 118: 659-671.
Bishop MT, Will RG, Manson JC. Defining sporadic Creutzfeldt-Jakob disease strains and their transmission properties. Proc Natl Acad Sci U S A 2010; 107: 12005-12010.
Moda F, Suardi S, Di Fede G et al. MM2-thalamic Creutzfeldt-Jakob disease. Neuropathological, biochemical and transmission studies identify a distinctive prion strain. Brain Pathol 2012; 22: 662-669.
Hamaguchi T, Kitamoto T, Sato T et al. Clinical diagnosis of MM2-type sporadic Creutzfeldt-Jakob disease. Neurology 2005; 64: 643-648.
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.
Will RG, Ironside JW, Zeidler M et al. A new variant of Creutzfeldt-Jakob disease in the UK. Lancet 1996; 347: 921-925.
Puoti G, Giaccone G, Rossi G, Canciani B, Bugiani O, Tagliavini F. Sporadic Creutzfeldt-Jakob disease. Co-occurrence of different types of PrPSc in the same brain. Neurology 1999; 53: 2173-2176.
Kobayashi A, Iwasaki Y, Takao M et al. A novel combination of prion strain co-occurrence in patients with sporadic Creutzfeldt-Jakob disease. Am J Pathol 2019; 189: 1276-1283.
Ashwath ML, DeArmond SJ, Culclasure T. Prion-associated dilated cardiomyopathy. Arch Intern Med 2005; 165: 338-340.