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Creutzfeldt–Jakob disease with E200K PRNP mutation: a case report and revision of the literature

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Abstract

Creutzfeldt–Jakob disease (CJD) is typically characterized by rapidly progressive dementia and myoclonus, and it is caused by a conformational change of the prion protein. The heritable forms are associated with mutation in the gene encoding the prion protein (PRNP). We report a 63-year-old Italian woman harboring the E200K PRNP mutation. Electroencephalogram, cerebrospinal fluid analysis, PRNP gene sequencing, histopathologic examination, immunohistochemical studies, and Western blotting analysis confirmed the diagnosis of CJD. Pyramidal involvement was the first sign and the prominent clinical feature. Later on, she developed also myoclonus, ataxia, spastic tetraplegia, and at last dementia with akinetic mutism. Usually, signs of degeneration of the pyramidal tracts occur in a small number of patients as the disease advances. Our report supports the variability of the clinical expression of the E200K genetic CJD. Further studies are needed to understand the molecular basis underlying the phenotypic variability among patients carrying this mutation.

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Authors and Affiliations

  1. Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, Pisa, Italy

    Michelangelo Mancuso, Gabriele Siciliano, Daniele Orsucci, Policarpo Moretti & Luigi Murri

  2. Department of Neurological Science, University of Bologna, via Foscolo 7, Bologna, Italy

    Sabina Capellari, Rosaria Strammiello & Piero Parchi

  3. “C. Besta” National Neurological Institute, Via Celoria 11, Milan, Italy

    Giuseppe Di Fede, Silvia Suardi & Fabrizio Tagliavini

Authors
  1. Michelangelo Mancuso
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  2. Gabriele Siciliano
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  3. Sabina Capellari
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  4. Daniele Orsucci
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  6. Giuseppe Di Fede
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  7. Silvia Suardi
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  8. Rosaria Strammiello
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  9. Piero Parchi
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  10. Fabrizio Tagliavini
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  11. Luigi Murri
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Correspondence to Michelangelo Mancuso.

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Mancuso, M., Siciliano, G., Capellari, S. et al. Creutzfeldt–Jakob disease with E200K PRNP mutation: a case report and revision of the literature. Neurol Sci 30, 417–420 (2009). https://doi.org/10.1007/s10072-009-0118-7

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  • DOI: https://doi.org/10.1007/s10072-009-0118-7

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