The Features of Genetic Prion Diseases Based on Chinese Surveillance Program.
OBJECTIVE
To identify the features of Chinese genetic prion diseases.


METHODS
Suspected Creutzfeldt-Jakob disease (CJD) cases that were reported under CJD surveillance were diagnosed and subtyped using the diagnostic criteria issued by the WHO. The general information concerning the patient, their clinical, MRI and EEG data, and the results of CSF 14-3-3 and PRNP sequencing were carefully collected from the database of the national CJD surveillance program and analyzed using the SPSS 11.5 statistical software program.


RESULTS
Since 2006, 69 patients were diagnosed with genetic prion diseases and as having 15 different mutations. The median age of the 69 patients at disease onset was 53.5 years, varying from 19 to 80 years. The majority of patients displaying clinical symptoms were in the 50-59 years of age. FFI, T188K gCJD and E200K were the three most common subtypes. The disease appeared in the family histories of 43.48% of the patients. The clinical manifestations varied considerably among the various diseases. Patients who carried mutations in the N-terminus displayed a younger age of onset, were CSF 14-3-3 negative, had a family history of the condition, and experienced a longer duration of the condition. The clinical courses of T188K were significantly shorter than those of FFI and E200K gCJD, while the symptoms in the FFI group appeared at a younger age and for a longer duration. Moreover, the time intervals between the initial neurologist visit to the final diagnosis were similar among patients with FFI, T188K gCJD, E200K gCJD and other diseases.


CONCLUSIONS
The features of Chinese genetic prion diseases are different from those seen in Europe and other Asian countries.
State Key Laboratory for Infectious Disease Prevention and Control, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, China; Collaborative Innovation Center Diagnosis and Treatment of Infectious Diseases, Zhejiang University, Hangzhou, China.
Qi
Q
Shi
State Key Laboratory for Infectious Disease Prevention and Control, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, China.
Wei
W
Zhou
State Key Laboratory for Infectious Disease Prevention and Control, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, China; Collaborative Innovation Center Diagnosis and Treatment of Infectious Diseases, Zhejiang University, Hangzhou, China.
Cao
C
Chen
State Key Laboratory for Infectious Disease Prevention and Control, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, China.
Bao-Yun
BY
Zhang
State Key Laboratory for Infectious Disease Prevention and Control, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, China; Collaborative Innovation Center Diagnosis and Treatment of Infectious Diseases, Zhejiang University, Hangzhou, China.
Kang
K
Xiao
Beijing Centers for Disease Control and Prevention, Dongcheng District, Beijing, China.
Xiu-Chun
XC
Zhang
Henan Provincial Center for Disease Control and Prevention, Zhengzhou, China.
Xiao-Jing
XJ
Shen
An hui Provincial Center for Disease Control and Prevention, Hefei, China.
Qing
Q
Li
Department of infectious disease control and Prevention, Jilin Provincial Center for Disease Control and Prevention, Changchun, China.
Li-Quan
LQ
Deng
Shaanxi Provincial Center for Disease Control and Prevention, Xi'an, China.
Jian-Hua
JH
Dong
Institute for Infectious Disease Control and Prevention, Guangdong provincial Center for Disease Control and Prevention, Dashing Town, Panyu District, Guangzhou, China.
Wen-Qing
WQ
Lin
Deptartment of Acute Communicable Disease Control & Prevention, Shanghai Municipal Center for Disease Control and Prevention, Shanghai, China.
Pu
P
Huang
Institute of Infectious Diseases Prevention and Control, GuiZhou province Center for Disease Control and Prevention, Guiyang, GuiZhou, China.
Wei-Jia
WJ
Jiang
Tianjin Centers for Diseases Control and Prevention, Hua Yue Street, Hedong District, Tianjin, China.
Jie
J
Lv
State Key Laboratory for Infectious Disease Prevention and Control, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, China; Collaborative Innovation Center Diagnosis and Treatment of Infectious Diseases, Zhejiang University, Hangzhou, China.
Jun
J
Han
State Key Laboratory for Infectious Disease Prevention and Control, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, China; Collaborative Innovation Center Diagnosis and Treatment of Infectious Diseases, Zhejiang University, Hangzhou, China; Chinese Academy of Sciences Key Laboratory of Pathogenic Microbiology and Immunology, Institute of Microbiology, Chinese Academy of Sciences, Beijing, China.
Xiao-Ping
XP
Dong
D048948:14-3-3 Proteins / Q000032:analysis / Q000235:genetics; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D001921:Brain / Q000473:pathology*; D002681:China / Q000453:epidemiology; D007562:Creutzfeldt-Jakob Syndrome / Q000145:classification / Q000175:diagnosis* / Q000453:epidemiology; D062665:Epidemiological Monitoring; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics*; D017423:Sequence Analysis, RNA; D055815:Young Adult
D048948:14-3-3 Proteins; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions