Human Prion disease with a T188K mutation in Chinese: a case report.
Inherited Prion diseases are characterized by mutations in the PRNP gene predispose to disease by causing the expression of abnormal PrP protein. We report a 58-year-old Chinese female with mutation in codon 188 (T188K) of the PRNP gene, while the codon 129 was a methionine homozygous genotype. The patient displayed 4-year long slowly progressive sleeping disturbance and rapid exacerbation of neurological status after other neurological manifestations appeared. Cerebral spinal fluid 14-3-3 protein was positive.
Shi
Qi
Q
State Key Laboratory for Infectious Disease Prevention and Control, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention Ying-Xin Rd 100, Beijing 100052 People's Republic of China. shiqi76@126.com
Gao
Chen
C
Zhou
Wei
W
Zhang
Bao-Yun
BY
Tian
Chan
C
Chen
Jian-Ming
JM
Jiang
Hui-Ying
HY
Han
Jun
J
Dong
Xiao-Ping
XP