title: Human Prion disease with a T188K mutation in Chinese: a case report.
abstract: 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.
authors.affiliation: 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
authors.forename: Qi
authors.initials: Q
authors.lastname: Shi
authors.forename: Chen
authors.initials: C
authors.lastname: Gao
authors.forename: Wei
authors.initials: W
authors.lastname: Zhou
authors.forename: Bao-Yun
authors.initials: BY
authors.lastname: Zhang
authors.forename: Chan
authors.initials: C
authors.lastname: Tian
authors.forename: Jian-Ming
authors.initials: JM
authors.lastname: Chen
authors.forename: Hui-Ying
authors.initials: HY
authors.lastname: Jiang
authors.forename: Jun
authors.initials: J
authors.lastname: Han
authors.forename: Xiao-Ping
authors.initials: XP
authors.lastname: Dong