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Prion. 2011 Jul-Sep;5(3):232-4. doi: 10.4161/pri.5.3.16796. Epub 2011 Jul 1.

The first Chinese case of Creutzfeldt-Jakob disease patient with R208H mutation in PRNP.

Author information

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, China.

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 4 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.

PMID:
21791975
PMCID:
PMC3226051
DOI:
10.4161/pri.5.3.16796
[Indexed for MEDLINE]
Free PMC Article

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