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...

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Detalles Bibliográficos
Autores principales: Shi, Qi, Gao, Chen, Zhou, Wei, Zhang, Bao-Yun, Tian, Chan, Chen, Jian-Ming, Jiang, Hui-Ying, Han, Jun, Dong, Xiao-Ping
Formato: Texto
Lenguaje:English
Publicado: Cases Network Ltd 2009
Materias:
Case report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2740053/
https://www.ncbi.nlm.nih.gov/pubmed/19830016
http://dx.doi.org/10.1186/1757-1626-2-7820
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author Shi, Qi
Gao, Chen
Zhou, Wei
Zhang, Bao-Yun
Tian, Chan
Chen, Jian-Ming
Jiang, Hui-Ying
Han, Jun
Dong, Xiao-Ping
author_facet Shi, Qi
Gao, Chen
Zhou, Wei
Zhang, Bao-Yun
Tian, Chan
Chen, Jian-Ming
Jiang, Hui-Ying
Han, Jun
Dong, Xiao-Ping
author_sort Shi, Qi
collection PubMed
description 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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spelling pubmed-27400532009-10-14 Human Prion disease with a T188K mutation in Chinese: a case report Shi, Qi Gao, Chen Zhou, Wei Zhang, Bao-Yun Tian, Chan Chen, Jian-Ming Jiang, Hui-Ying Han, Jun Dong, Xiao-Ping Cases J 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. Cases Network Ltd 2009-05-29 /pmc/articles/PMC2740053/ /pubmed/19830016 http://dx.doi.org/10.1186/1757-1626-2-7820 Text en © 2009 Shi et al.; licensee Cases Network Ltd. http://creativecommons.org/licenses/by/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case report
Shi, Qi
Gao, Chen
Zhou, Wei
Zhang, Bao-Yun
Tian, Chan
Chen, Jian-Ming
Jiang, Hui-Ying
Han, Jun
Dong, Xiao-Ping
Human Prion disease with a T188K mutation in Chinese: a case report
title Human Prion disease with a T188K mutation in Chinese: a case report
title_full Human Prion disease with a T188K mutation in Chinese: a case report
title_fullStr Human Prion disease with a T188K mutation in Chinese: a case report
title_full_unstemmed Human Prion disease with a T188K mutation in Chinese: a case report
title_short Human Prion disease with a T188K mutation in Chinese: a case report
title_sort human prion disease with a t188k mutation in chinese: a case report
topic Case report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2740053/
https://www.ncbi.nlm.nih.gov/pubmed/19830016
http://dx.doi.org/10.1186/1757-1626-2-7820
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