700
Views
9
CrossRef citations to date
0
Altmetric
CASE REPORT

Creutzfeldt-Jakob disease associated with a V203I homozygous mutation in the prion protein gene

, , , , &
Pages 336-338 | Received 25 Jun 2014, Accepted 27 Aug 2014, Published online: 31 Dec 2014

References

  • Bechtel K, Geschwind MD. Ethics in prion disease. Prog Neurobiol 2013; [Epub ahead of print] doi: 10.1016/j.pneurobio.2013.07.001.; PMID:23906487
  • Parchi P, Gambetti P, Capellari S. Neurodegeneration 2nd ed. Oxford: Wiley-Blackwell; 2011. Chapter 33, Genetic Creutzfeldt–Jakob disease; 336-45
  • Budka H, Mark W, James W, Gambetti P, Parchi P, Tagliavini F. Neurodegeneration 2nd ed. Oxford: Wiley-Blackwell; 2011. Chapter 32, Sporadic Creutzfeldt–Jakob disease; 322-35.
  • Nozaki I, Hamaguchi T, Sanjo N, Noguchi-Shinohara M, Sakai K, Nakamura Y, Sato T, Kitamoto T, Mizusawa H, Moriwaka F et al. Prospective 10-year surveillance of human prion disease in Japan. Brain 2010; 133:3043-57; PMID:20855418; http://dx.doi.org/10.1093/brain/awq216
  • Kovács GG, Puopolo M, Ladogana A, Pocchiari M, Budka H, van Duijn C, Collins SJ, Boyd A, Giulivi A, Coulthart M, et al. Genetic prion disease: the EUROCJD experience. Hum Genet 2005; 118:166-74; http://dx.doi.org/10.1007/s00439-005-0020-1
  • Jeong BH, Jeon YC, Lee YJ, Cho HJ, Park SJ, Chung DI, Kim J, Kim SH, Kim HT, Choi EK, 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 and Appl Neurobiol 2010; 36:558-63; http://dx.doi.org/10.1111/j.1365-2990.2010.01094.x
  • Peoc’h K, Manivet P, Beaudry P, Attane F, Besson G, Hannequin D, Delasnerie-Lauprêtre N, Laplanche JL. 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%3c482::AID-HUMU16%3e3.0.CO;2-1
  • Shi Q, Chen C, Wang XJ, Zhou W, Wang JC, Zhang BY, Gao C, Gao C, Han J, Dong XP. Rare V203I mutation in the PRNP gene of a Chinese patient with Creutzfeldt-Jakob disease. Prion 2013; 7:259-62; PMID:23764840; http://dx.doi.org/10.4161/pri.24674
  • Simon ES, Kahana E, Chapman J, Treves TA, Gabizon R, Rosenmann H, Zilber N, Korczyn AD. Creutzfeldt-Jakob disease profile in patients homozygous for the PRNP E200K mutation. Ann Neurol 2000; 47:257-60; PMID:10665501; http://dx.doi.org/10.1002/1531-8249(200002)47:2%3c257::AID-ANA20%3e3.0.CO;2-U
  • Iwasaki Y, Mori K, Ito M. Investigation of the clinical course and treatment of prion disease patients in the akinetic mutism state in Japan. Rinsho Shinkeigaku 2012; 52:314-9; PMID:22688110; http://dx.doi.org/10.5692/clinicalneurol.52.314
  • 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; PMID:9751723; http://dx.doi.org/10.1073/pnas.95.20.11667

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.