530
Views
8
CrossRef citations to date
0
Altmetric
Technical Report

A Chinese Creutzfeldt-Jakob disease patient with E196K mutation in PRNP

, , , , , , , , & show all
Pages 117-120 | Received 24 Jan 2011, Accepted 15 Apr 2011, Published online: 01 Apr 2011

References

  • Prusiner SB. Prions. Proc Natl Acad Sci USA 1998; 95:13363 - 13383
  • Brandel JP. Clinical aspects of human spongiform encephalopathies, with the exception of iatrogenic forms. Biomed Pharmacother 1999; 53:14 - 18
  • 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
  • Hilton DA. Pathogenesis and prevalence of variant Creutzfeldt-Jakob disease. J Pathol 2006; 208:134 - 141
  • The National Creutzfeldt-Jakob Disease Surveillance Unit (NCJDSU). www.cjd.ed.ac.uk/index.htm
  • Shi Q, Gao C, Zhou W, Zhang BY, Tian C, Chen JM, et al. Human prion disease with a T188K mutation in Chinese: a case report. Cases J 2009; 29:7820
  • Gao C, Shi Q, Zhou W, Tian C, Jiang HY, Han BY, et al. The first Chinese case of Creutzfeldt-Jakob disease with mutation of E200K in PRNP. Biomed Environ Sci 2010; 23:158 - 160
  • Shi XH, Han J, Zhang J, Shi Q, Chen JM, Xia SL, et al. Clinical, histopathological and genetic studies in a family with fatal familial insomnia. Infect Genet Evol 2010; 10:292 - 297
  • Cuadrado-Corrales N, Jiménez-Huete A, Albo C, Hortigüela R, Vega L, Cerrato L, et al. Impact of the clinical context on the 14-3-3 test for the diagnosis of sporadic CJD. BMC Neurol 2006; 6:25
  • Shi Q, Gao C, Zhou W, Zhang BY, Chen JM, Tian C, et al. Surveillance for Creutzfeldt-Jakob disease in China from 2006 to 2007. BMC Public Health 2008; 8:360
  • 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
  • Schelzke G, Eigenbrod S, Romero C, Varges D, Breithaupt M, Taratuto AL, et al. Genetic prion disease with codon 196 PRNP mutation: clinical and pathological findings. Neurobiol Aging 2011; 32:1 - 9; http://dx.doi.org/10.1016/j.neurobiolaging.2010.11.023
  • Tumani H, Windi O, Kretzschmar HA, Ludolph AC. Clinically atypical CJD: diagnostic relevance of cerebrospinal fluid markers and molecular genetic analysis?. Dtsch Med Wochenschr 2002; 127:318 - 320
  • Clerici F, Elia A, Girotti F, Contri P, Mariani C, Tagliavini F, et al. Atypical presentation of Creutzfeldt-Jakob disease: the first Italian case associated with E196K mutation in the PRNP gene. J Neurol Sci 2008; 275:145 - 147
  • Béjot Y, Osseby GV, Caillier M, Moreau T, Laplanche JL, Giroud M. Rare E196K mutation in the PRNP gene of a patient exhibiting behavioral abnormalities. Clin Neurol Neurosurg 2010; 112:244 - 247
  • Ye J, Han J, Shi Q, Zhang BY, Wang GR, Tian C, et al. Human prion disease with a G114V mutation and epidemiological studies in a Chinese family: a case series. J Med Case Reports 2008; 2:331
  • Iwasaki Y, Kizawa M, Hori N, Kitamoto T, Sobue G. A case of Gerstmann-Sträussler-Scheinker syndrome with the P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis. Clin Neurol Neurosurg 2009; 111:606 - 609
  • Guest WC, Cashman NR, Plotkin SS. Electrostatics in the stability and misfolding of the prion protein: salt bridges, self energy and solvation. Biochem Cell Biol 2010; 88:371 - 381

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.