Human Prion disease with a T188K mutation in Chinese: a case report-Reference-Cited by-同舟云学术

Human Prion disease with a T188K mutation in Chinese: a case report

Published:2009-05-29 Issue:1 Volume:2 Page:
ISSN:1757-1626
Container-title:Cases Journal
language:en
Short-container-title:Cases Journal

Author:

Shi Qi,Gao Chen,Zhou Wei,Zhang Bao-Yun,Tian Chan,Chen Jian-Ming,Jiang Hui-Ying,Han Jun,Dong Xiao-Ping

Abstract

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.

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Link

https://link.springer.com/content/pdf/10.1186/1757-1626-2-7820.pdf

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