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J Clin Neurosci. 2014 Jan;21(1):175-8. doi: 10.1016/j.jocn.2013.03.016. Epub 2013 Jun 17.

Novel prion protein gene mutation at codon 196 (E196A) in a septuagenarian with Creutzfeldt-Jakob disease.

Author information

1
Department of Neurology, First Hospital of Jilin University, 71 Xinmin Street, Changchun 130021, China.
2
Department of Neurology, First Hospital of Jilin University, 71 Xinmin Street, Changchun 130021, China; Department of Neurology, Tengzhou Central People's Hospital, Tengzhou, China.
3
Department of Neurology, First Hospital of Jilin University, 71 Xinmin Street, Changchun 130021, China; Neuroprotection Research Laboratory, Massachusetts General Hospital, Harvard Medical School, MA, USA.
4
Department of Neurology, First Hospital of Jilin University, 71 Xinmin Street, Changchun 130021, China. Electronic address: sjnksunli@163.com.

Abstract

Creutzfeldt-Jakob disease (CJD) is a rare and rapidly progressive neurodegenerative disease of the central nervous system, which may occur in inherited, acquired (variant and iatrogenic), or spontaneous (sporadic) forms. We report a 76-year-old Chinese man with CJD found to have a novel mutation in the prion protein gene (PRNP). The 14-3-3 protein was positive in the cerebrospinal fluid; diffusion-weighted MRI revealed ribbon-like high signal intensity in the bilateral cortices; and electroencephalography showed typical periodic synchronous discharge. CJD was diagnosed based on characteristic clinical manifestations. Interestingly, a point mutation of PRNP at codon 196 (E196A: GAG→GCG) was detected. In conclusion, we identified a patient with CJD with a novel PRNP mutation, which expands the spectrum of PRNP mutations in CJD.

KEYWORDS:

Codon 196; Creutzfeldt–Jakob disease; Mutation; Prion

PMID:
23787189
DOI:
10.1016/j.jocn.2013.03.016
[Indexed for MEDLINE]

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