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Clinical radiological correlation in E200K familial Creutzfeldt–Jakob disease

  • Neurology and Preclinical Neurological Studies - Original Article
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Abstract

The use of diffusion MRI improved the accuracy of diagnosis in Creutzfeldt–Jakob disease (CJD) and expanded our knowledge of the changes occurring in the brain during the disease. The aim of this study was to test whether in patients with E200K familial CJD (fCJD) the clinical severity correlates with the disease burden as reflected by the extent of cortical involvement in DWI MRI. Consecutive fCJD patients were examined by a neurologist who performed several tests including the CJD neurological scale (CJD-NS), MiniMental status examination (MMSE), Frontal Assessment Battery (FAB), NIH Stroke Scale (NIHSS), and the expanded disability status scale (EDSS). A simultaneously acquired MRI was analyzed by measuring the extent of cortical involvement in the DWI axial sequence. Correlations were tested for using Pearson test. Fifty-two fCJD patients (35 males, mean age 59.4 ± 5.7 years) were recruited to the study. Significant negative correlation was found between the extent of cortical involvement and the cognitive performance of the patients as reflected by their MMSE and FAB scores. In addition, a significant positive correlation was found between the MRI and the clinical disease severity scales CJD-NS and EDSS. The correlation between clinical scales of severity and cognitive dysfunction and the disease burden confirms the reliability of the CJD-NS scale. Further studies are warranted to examine whether MRI may serve not only for diagnosis but also as a biomarker for follow-up of disease progression and the efficacy of potential treatments.

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Acknowledgments

The work was partially supported by National Institute of Health (NIH) Grant #NS043488.

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Authors and Affiliations

  1. Department of Neurology, Assaf Harofeh Medical Center, Zerifin, 70300, Israel

    Oren S. Cohen

  2. Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel

    Oren S. Cohen, Joab Chapman, Amos D. Korczyn & Chen Hoffmann

  3. Department of Neurology, Chaim Sheba Medical Center, Tel Hashomer, Israel

    Joab Chapman & Naama Warman-Alaluf

  4. Robert and Martha Harden Chair in Mental and Neurological Diseases, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

    Joab Chapman

  5. St. George’s University of London, Engomi, Cyprus

    Oliver L. Siaw

  6. Department of Neurology, Barzilai Medical Center, Ashkelon, Israel

    Zeev Nitsan, Shmuel Appel & Esther Kahana

  7. Department of Neurology, Hadassah Hebrew University Medical Center, Jerusalem, Israel

    Hanna Rosenmann

  8. Department of Radiology, Chaim Sheba Medical Center, Tel Hashomer, Israel

    Chen Hoffmann

Authors
  1. Oren S. Cohen
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  2. Joab Chapman
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  3. Amos D. Korczyn
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  4. Oliver L. Siaw
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  5. Naama Warman-Alaluf
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  6. Zeev Nitsan
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  7. Shmuel Appel
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  8. Esther Kahana
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  9. Hanna Rosenmann
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  10. Chen Hoffmann
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Corresponding author

Correspondence to Oren S. Cohen.

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Conflict of interest

Dr. Cohen has no conflict of interest. Prof. Chapman has no conflict of interest. Prof. Korczyn has no conflict of interest. Mr. Siaw has no conflict of interest. Mrs. Warman-Alaluf has no conflict of interest. Dr. Nitsan has no conflict of interest. Dr. Appel has no conflict of interest. Prof. Kahana has no conflict of interest. Dr. Rosenmann has no conflict of interest. Dr. Hoffmann has no conflict of interest.

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Cohen, O.S., Chapman, J., Korczyn, A.D. et al. Clinical radiological correlation in E200K familial Creutzfeldt–Jakob disease. J Neural Transm 123, 1457–1462 (2016). https://doi.org/10.1007/s00702-016-1617-3

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  • DOI: https://doi.org/10.1007/s00702-016-1617-3

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