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
Descripción
Sumario: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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