Rare E196A mutation in PRNP gene of 3 Chinese patients with Creutzfeldt-Jacob disease.
Inherited prion diseases are characterized by mutations in the PRNP gene, which account for 5-15% of human prion diseases. Here we reported 3 Chinese genetic Creutzfeldt-Jacob disease cases (gCJD) with a rare mutation in PRNP leading to an exchange of amino acid from glutamic acid (E) to alanine (A) at codon 196 (E196A). All three patients were Han Chinese without any sibship among them. They showed various unspecific symptoms at onset and displayed typical clinical manifestations of sporadic CJD with progress of disease. The same time, 2 cases showed psychotic symptoms during the clinical courses. 14-3-3 proteins were positive in cerebrospinal fluid (CSF) and special abnormality were detected in MRI of all the cases. The polymorphism of codon 129 was methionin homozygote and that of codon 219 was glutamate homozygote in all 3 patients. The disease durations of the 3 cases varied from 10 to 22 months and no disease associated family history was figured out in all the cases.
a State Key Laboratory for Infectious Disease Prevention and Control, Collaborative Innovation Center Diagnosis and Treatment of Infectious Diseases (Zhejiang University, Hangzhou), National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention , Beijing , China.
Qi
Q
Shi
a State Key Laboratory for Infectious Disease Prevention and Control, Collaborative Innovation Center Diagnosis and Treatment of Infectious Diseases (Zhejiang University, Hangzhou), National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention , Beijing , China.
Wei
W
Zhou
a State Key Laboratory for Infectious Disease Prevention and Control, Collaborative Innovation Center Diagnosis and Treatment of Infectious Diseases (Zhejiang University, Hangzhou), National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention , Beijing , China.
Cao
C
Chen
a State Key Laboratory for Infectious Disease Prevention and Control, Collaborative Innovation Center Diagnosis and Treatment of Infectious Diseases (Zhejiang University, Hangzhou), National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention , Beijing , China.
Bao-Yun
BY
Zhang
a State Key Laboratory for Infectious Disease Prevention and Control, Collaborative Innovation Center Diagnosis and Treatment of Infectious Diseases (Zhejiang University, Hangzhou), National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention , Beijing , China.
Kang
K
Xiao
a State Key Laboratory for Infectious Disease Prevention and Control, Collaborative Innovation Center Diagnosis and Treatment of Infectious Diseases (Zhejiang University, Hangzhou), National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention , Beijing , China.
Yuan
Y
Wang
a State Key Laboratory for Infectious Disease Prevention and Control, Collaborative Innovation Center Diagnosis and Treatment of Infectious Diseases (Zhejiang University, Hangzhou), National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention , Beijing , China.|b Chinese Academy of Sciences Key Laboratory of Pathogenic Microbiology and Immunology, Institute of Microbiology, Chinese Academy of Sciences , Beijing , China.
Xiao-Ping
XP
Dong
D000368:Aged; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics*; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011110:Polymorphism, Genetic; D000072002:Prion Proteins / Q000235:genetics* / Q000378:metabolism; D011379:Prognosis
C512656:PRNP protein, human; D000072002:Prion Proteins
14-3-3 protein; Creutzfeldt–Jakob disease; E196A; PRNP; mutation