The first Chinese case of Creutzfeldt-Jakob disease patient with R208H mutation in PRNP |
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| Authors: | Cao Chen Qi Shi Chan Tian Qing Li Wei Zhou Chen Gao Jun Han Xiao-Ping Dong |
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| Institution: | 1.State Key Laboratory for Infectious Disease Prevention and Control; National Institute for Viral Disease Control and Prevention; Chinese Center for Disease Control and Prevention; Beijing;2.Anhui Provincial Center for Disease Control and Prevention; Anhui, China |
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| Abstract: | A case of Creutzfeldt-Jakob disease (CJD) with a rare mutation of the prion protein (PrP) gene (PRNP) at codon 208 (R208H), while the codon 129 was a methionine homozygous genotype is reported. The patient initial displayed hand tremor, dizziness and progressive cognitive dysfunction. Subsequently, other symptoms gradually appeared, including cerebellar ataxia and mental disorder. No periodic activity was recorded at electroencephalography (EEG) and 14-3-3 protein in cerebrospinal fluid was negative. Total clinical course was about four months. Retrospective investigation of this family across seven generations did not figure out clear family history. However, genetic analyses revealed six first-degree family members with the R208H allele.Key words: creutzfeldt-Jakob disease, PRNP, R208H |
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