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Updated: Jun 19, 2026

Detection of Abnormal Prion Protein by Immunohistochemistry
Published on: May 5, 2023
Human Prion disease with a T188K mutation in Chinese: a case report
1State 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
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.
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