301. Human Prion disease with a T188K mutation in Chinese: a case report
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Wei Zhou, Chan Tian, Qi Shi, Jun Han, Xiao-Ping Dong, Jian-Ming Chen, Chen Gao, Hui-Ying Jiang, and Bao-Yun Zhang
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Medicine(all) ,Mutation ,Methionine ,Exacerbation ,business.industry ,Homozygous genotype ,Cerebral Spinal Fluid ,Neurological status ,animal diseases ,Disease ,General Medicine ,medicine.disease_cause ,Bioinformatics ,nervous system diseases ,chemistry.chemical_compound ,chemistry ,Immunology ,Case report ,Medicine ,Prnp gene ,business - 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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