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

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.
AuthorsHongliang Zhang, Meibo Wang, Limin Wu, Haining Zhang, Tao Jin, Jiang Wu, Li Sun
JournalJournal 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
PMID23787189 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
CopyrightCopyright © 2013 Elsevier Ltd. All rights reserved.
Chemical References
  • 14-3-3 Proteins
  • Codon
  • Prions
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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