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Neurological Sciences

, Volume 38, Issue 8, pp 1535–1537 | Cite as

Sporadic Creutzfeldt-Jakob disease presenting with isolated progressive non-fluent aphasia in a young woman

  • Alberto TerrinEmail author
  • Andrea Barp
  • Gianluigi Zanusso
  • Paolo Gallo
  • Annachiara Cagnin
Letter to the Editor

Introduction

Creutzfeldt-Jakob disease (CJD) belongs to a family of neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases. Sporadic (sCJD), the most common form, occurs at an incidence of 1/100.0000/year. Onset usually occurs in the seventh decade of life, and life expectancy is about 5 months. Clinically, sCJD is characterized by a rapidly progressive dementia, myoclonus, visual, or cerebellar disturbances, pyramidal or extrapyramidal signs, and akinetic mutism [1]. Brain MRI can support the clinical diagnosis of sCJD showing signal hyperintensity at the FLAIR/DWI sequences in caudate/putamen and/or in at least two regions among the temporal, parietal, and occipital cortex [2, 3]. Here, we report a young woman with isolated language impairment and left basal ganglia MRI-DWI alterations. Probable sCJD was diagnosed in vivo with detection of prion protein (PrP) seeding activity through Real-Time Quaking-Induced Conversion (RT-QuIC) in CSF and...

Keywords

Prion Disease Olfactory Mucosa PRNP Gene Akinetic Mutism Anterior Temporal Region 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgements

We would like to acknowledge the patient, her husband, and her family for the collaboration.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Study funding

There is no targeted funding reported.

References

  1. 1.
    Newey CR, Sarwal A, Wisco D, Alam S, Lederman RJ (2013) Variability in diagnosing Creutzfeldt–Jakob disease using standard and proposed diagnostic criteria. J Neuroimaging 23:58–63CrossRefPubMedGoogle Scholar
  2. 2.
    Zerr I, Kallenberg K, Summers DM et al (2009) Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease. Brain 132(Pt 10):2659CrossRefPubMedPubMedCentralGoogle Scholar
  3. 3.
    Vitali P, Maccagnano E, Caverzasi E et al (2011) Diffusion-weighted MRI hyperintensity patterns differentiate CJD from other rapid dementias. Neurology 76(20):1711–1719CrossRefPubMedPubMedCentralGoogle Scholar
  4. 4.
    El Tawil S, Chohan G, Mackenzie J et al (2016) Isolated language impairment as the primary presentation of sporadic Creutzfeldt Jakob disease. Acta Neurol Scand. doi: 10.1111/ane.12600 PubMedGoogle Scholar
  5. 5.
    Zanusso G, Camporese G, Ferrari S et al (2016) Long-term preclinical magnetic resonance imaging alterations in sporadic Creutzfeldt-Jakob disease. Ann Neurol 80(4):629–632CrossRefPubMedGoogle Scholar
  6. 6.
    Cammaroto S, Smorto C, Galletta D et al (2015) Autopsy-like MRI findings: report on Creutzfeldt–Jakob disease in the end-stage. Neurol Sci 36(8):1497–1499CrossRefPubMedGoogle Scholar
  7. 7.
    Bongianni M, Orrù C, Groveman BR et al (2016) Diagnosis of human prion disease using real-time quaking-induced conversion testing of olfactory mucosa and cerebrospinal fluid samples. JAMA Neurol. doi: 10.1001/jamaneurol.2016.4614 Google Scholar
  8. 8.
    Zanusso G, Monaco S, Pocchiari M, Caughey B (2016) Advanced tests for early and accurate diagnosis of Creutzfeldt-Jakob disease. Nat Rev Neurol 12(6):325–333CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag Italia 2017

Authors and Affiliations

  1. 1.Department of Neuroscience (DNS)University of PadovaPadovaItaly
  2. 2.Department of Neuroscience, Biomedicine, and Movement SciencesUniversity of VeronaVeronaItaly

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