Rare E196A mutation in PRNP gene of 3 Chinese patients with Creutzfeldt-Jacob disease

REFERENCES

• Imran M, Mahmood S. An overview of human prion diseases. Virol J 2011; 8:559; PMID:22196171; http://dx.doi.org/10.1186/1743-422X-8-559
   PubMed Web of Science ®Google Scholar
• Prusiner SB. The prion diseases. Brain Pathol 1998; 8:499-513; PMID:9669700; http://dx.doi.org/10.1111/j.1750-3639.1998.tb00171.x
   PubMed Web of Science ®Google Scholar
• Zeng L, Zou W, Wang G. Cellular prion protein (PrP(C)) and its role in stress responses. Int J Clin Exp Med 2015; 8:8042-50; PMID:26221369
   PubMed Web of Science ®Google Scholar
• Jeong BH, Kim YS. Genetic studies in human prion diseases. J Korean Med Sci 2014; 29:623-32; PMID:24851016; http://dx.doi.org/10.3346/jkms.2014.29.5.623
   PubMed Web of Science ®Google Scholar
• Shi Q, Zhou W, Chen C, Zhang BY, Xiao K, Zhang XC, Shen XJ, Li Q, Deng LQ, Dong JH, et al. The features of genetic prion diseases based on Chinese surveillance program. PLoS One 2015; 10(10):e0139552; PMID:26488179; http://dx.doi.org/10.1371/journal.pone.0139552
   PubMedGoogle Scholar
• Gao C, Shi Q, Tian C, Chen C, Han J, Zhou W, Zhang BY, Jiang HY, Zhang J, Dong XP. The epidemiological, clinical, and laboratory features of sporadic Creutzfeldt-Jakob disease patients in China: surveillance data from 2006 to 2010. PLoS One 2011; 6(8):e24231; PMID:21904617; http://dx.doi.org/10.1371/journal.pone.0024231
   PubMedGoogle Scholar
• Zerr I, Kallenberg K, Summers DM, Romero C, Taratuto A, Heinemann U, Breithaupt M, Varges D, Meissner B, Ladogana A, et al. Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease. Brain 2009; 132:2659-68; PMID:19773352; http://dx.doi.org/10.1093/brain/awp191
   PubMed Web of Science ®Google Scholar
• Shi Q, Shen XJ, Zhou W, Xiao K, Zhang XM, Zhang BY, Dong XP. Rare V180I mutation in PRNP gene of a Chinese patient with Creutzfeldt-Jakob disease. Prion 2014; 8:411-4; PMID:25482600; http://dx.doi.org/10.4161/19336896.2014.967040
   PubMed Web of Science ®Google Scholar
• Zhang H, Wang M, Wu L, Zhang H, Jin T, Wu J, Sun L. Novel prion protein gene mutation at codon 196 (E196A) in a septuagenarian with Creutzfeldt-Jakob disease. J Clin Neurosci 2014; 21:175-8; PMID:23787189; http://dx.doi.org/10.1016/j.jocn.2013.03.016
   PubMed Web of Science ®Google Scholar
• Kim MO, Geschwind MD. Clinical update of Jakob-Creutzfeldt disease. Curr Opin Neurol 2015; 28:302-10; PMID:25923128; http://dx.doi.org/10.1097/WCO.0000000000000197
   PubMed Web of Science ®Google Scholar
• 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; PMID:10790216; http://dx.doi.org/10.1002/(SICI)1098-1004(200005)15:5%3c482::AID-HUMU16%3e3.0.CO;2-1
   PubMed Web of Science ®Google Scholar
• Krasnianski A, Heinemann U, Ponto C, Kortt J, Kallenberg K, Varges D, Schulz-Schaeffer WJ, Kretzschmar HA, Zerr I. Clinical findings and diagnosis in genetic prion diseases in Germany. Eur J Epidemiol 2016; 31(2):187-96; PMID:26076917; http://dx.doi.org/10.1007/s10654-015-0049-y
   PubMed Web of Science ®Google Scholar
• Eigenbrod S, Frick P, Giese A, Schelzke G, Zerr I, Kretzschmar HA. Comprehensive neuropathologic analysis of genetic prion disease associated with the E196K mutation in PRNP reveals phenotypic heterogeneity. J Neuropathol Exp Neurol 2011; 70:192-200; PMID:21293298; http://dx.doi.org/10.1097/NEN.0b013e31820cd8a4
   PubMed Web of Science ®Google Scholar
• Schelzke G, Eigenbrod S, Romero C, Varges D, Breithaupt M, Taratuto AL, Kretzschmar HA, Zerr I. Genetic prion disease with codon 196 PRNP mutation: clinical and pathological findings. Neurobiol Aging 2011; 32: 756 e751-9; PMID:NOT_FOUND; http://dx.doi.org/10.1016/j.neurobiolaging.2010.11.023
   PubMedGoogle Scholar
• Bejot 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; 112:244-7; PMID:20005032; http://dx.doi.org/10.1016/j.clineuro.2009.11.002
   PubMed Web of Science ®Google Scholar
• Clerici F, Elia A, Girotti F, Contri P, Mariani C, Tagliavini F, Di Fede G. Atypical presentation of Creutzfeldt-Jakob disease: the first Italian case associated with E196K mutation in the PRNP gene. J Neurol Sci 2008; 275:145-7; PMID:18706660; http://dx.doi.org/10.1016/j.jns.2008.06.036
   PubMed Web of Science ®Google Scholar
• Shi Q, Chen C, Song XN, Gao C, Tian C, Zhou W, Song XH, Yao LS, Han J, Dong XP. A Chinese Creutzfeldt-Jakob disease patient with E196K mutation in PRNP. Prion 2011; 5:117-20; PMID:21597335; http://dx.doi.org/10.4161/pri.5.2.15846
   PubMed Web of Science ®Google Scholar