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.
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Authors | Hongliang Zhang, Meibo Wang, Limin Wu, Haining Zhang, Tao Jin, Jiang Wu, Li Sun |
Journal | Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
(J Clin Neurosci)
Vol. 21
Issue 1
Pg. 175-8
(Jan 2014)
ISSN: 1532-2653 [Electronic] Scotland |
PMID | 23787189
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | Copyright © 2013 Elsevier Ltd. All rights reserved. |
Chemical References |
- 14-3-3 Proteins
- Codon
- Prions
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Topics |
- 14-3-3 Proteins
(cerebrospinal fluid)
- Aged
- Codon
(genetics)
- Creutzfeldt-Jakob Syndrome
(cerebrospinal fluid, genetics, physiopathology)
- Humans
- Male
- Point Mutation
- Prions
(genetics)
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