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Short Communication

Rare V203I mutation in the PRNP gene of a Chinese patient with Creutzfeldt–Jakob disease

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Pages 259-262 | Received 18 Jan 2013, Accepted 11 Apr 2013, Published online: 15 Apr 2013

References

  • Prusiner SB. Prions. Proc Natl Acad Sci U S A 1998; 95:13363 - 83; http://dx.doi.org/10.1073/pnas.95.23.13363; PMID: 9811807
  • Sikorska B, Knight R, Ironside JW, Liberski PP. Creutzfeldt-Jakob disease. Adv Exp Med Biol 2012; 724:76 - 90; http://dx.doi.org/10.1007/978-1-4614-0653-2_6; PMID: 22411235
  • Shi Q, Chen C, Gao C, Tian C, Zhou W, Zhang B, et al. Clinical and familial characteristics of ten chinese patients with fatal family insomnia. Biomed Environ Sci 2012; 25:471 - 5; PMID: 23026528
  • Chen C, Shi Q, Zhou W, Zhang XC, Dong JH, Hu XQ, et al. Clinical and familial characteristics of eight Chinese patients with T188K genetic Creutzfeldt-Jakob disease. Infect Genet Evol 2013; 14:120 - 4; http://dx.doi.org/10.1016/j.meegid.2012.11.019; PMID: 23261545
  • Peoc’h K, Manivet P, Beaudry P, Attane F, Besson G, Hannequin D, et al. Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype. Hum Mutat 2000; 15:482; http://dx.doi.org/10.1002/(SICI)1098-1004(200005)15:5<482::AID-HUMU16>3.0.CO;2-1; PMID: 10790216
  • Jeong BH, Jeon YC, Lee YJ, Cho HJ, Park SJ, Chung DI, et al. Creutzfeldt-Jakob disease with the V203I mutation and M129V polymorphism of the prion protein gene (PRNP) and a 17 kDa prion protein fragment. Neuropathol Appl Neurobiol 2010; 36:558 - 63; http://dx.doi.org/10.1111/j.1365-2990.2010.01094.x; PMID: 20497338
  • Das K, Davis R, Dutoit B, Parsons B. Sporadic Creutzfeldt-Jakob disease: a description of two cases. Int Psychogeriatr 2012; 24:1183 - 5; http://dx.doi.org/10.1017/S1041610212000373; PMID: 22436171
  • Bouwman NA, Verhagen WI, Meulstee J. EEG abnormalities in poikilothermia suggesting Creutzfeldt-Jakob disease. Clin EEG Neurosci 2009; 40:196 - 9; http://dx.doi.org/10.1177/155005940904000313; PMID: 19715183
  • Webb TE, Whittaker J, Collinge J, Mead S. Age of onset and death in inherited prion disease are heritable. Am J Med Genet B Neuropsychiatr Genet 2009; 150B:496 - 501; http://dx.doi.org/10.1002/ajmg.b.30844; PMID: 18729123
  • Riek R, Wider G, Billeter M, Hornemann S, Glockshuber R, Wüthrich K. Prion protein NMR structure and familial human spongiform encephalopathies. Proc Natl Acad Sci U S A 1998; 95:11667 - 72; http://dx.doi.org/10.1073/pnas.95.20.11667; PMID: 9751723

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