Rare V203I mutation in the PRNP gene of a Chinese patient with Creutzfeldt–Jakob disease

Abstract

Here, we report a Chinese case of Creutzfeldt–Jakob disease (CJD) with a rare mutation in the prion protein gene (PRNP) leading to an exchange of amino acid from valine (Val) to isoleucine (I) at codon 203 (V203I). The 80-y-old male presented with sudden memory loss, rapid loss of vocabulary, inattention and slow responses, accompanied by dizziness, blurred vision and ataxia. Two weeks after admission, he exhibited tremor, myoclonus and bilateral Babinski signs. At the end of the clinical course, he developed severe akinetic mutism. The cerebrospinal fluid (CSF) was positive for 14-3-3 protein. Increased bilateral signal intensity in the frontal and parietal lobes was seen on diffusion-weighted imaging (DWI); periodic activity was recorded on an electroencephalogram (EEG). There was no family history of similar symptoms. The total clinical course was approximately two months.

Keywords: :

• 14-3-3 protein
• PRNP
• Creutzfeldt–Jakob disease
• V203I
• mutation

Disclosure of Potential Conflicts of Interest

The authors report no conflicts of interest

Acknowledgments

We thank the staff from Qianfoshan Hospital for supplying patient clinical information. This work was supported by the China Mega-Project for Infectious Disease (2011ZX10004–101, 2012ZX10004215), the Young Scholar Scientific Research Foundation of China CDC (2012A102) and SKLID Development Grant (2012SKLID102, 2011SKLID211)