Symptoms to Diagnosis

Rapid cognitive decline and myoclonus in a 52-year-old woman

William Gravley, MS, Caleb Murphy, MD, MBA, Chia-Dan Kang, MD and Badrunnisa Hanif, MD
Cleveland Clinic Journal of Medicine October 2021, 88 (10) 572-583; DOI: https://doi.org/10.3949/ccjm.88a.20004

Article Figures & Data

Figures

  • Figure 1
    Figure 1

    Diffusion-weighted magnetic resonance imaging at admission shows cortical bifrontal (red arrow) and parietal (green arrow) diffusion (cortical ribboning), with greater intensity on the left. No thalamic hyperintensity was seen. Note that the quality of this image was affected by patient movement during the procedure, in spite of attempts to sedate her.

  • Figure 2
    Figure 2

    Electroencephalography showed continuous triphasic waves (red boxes) and diffuse cortical slowing. Diffuse slowing is seen throughout the recording, as the background frequency consists mostly of theta waves (frequency 4–7 Hz) despite provoking maneuvers and the patient not being on sedating medications.

  • Figure 3
    Figure 3

    Immunohistochemical staining shows fine prion protein deposits in the molecular layer, coarser deposits in the granular layer, and plaques in both layers of the cerebellum (magnification × 600). Fine deposits in the upper portion (molecular layer) of the image appear as numerous dark deposits. The red arrow points to coarse deposits in the granular layer, and the black arrow points to plaque.

    From Kovács GG, Head MW, Hegyi I, et al. Immunohistochemistry for the prion protein: comparison of different monoclonal antibodies in human prion disease subtypes. Brain Pathol 2002; 12(1):1–11. doi:10.1111/j.1750-3639.2002.tb00417.x. Copyright John Wiley and Sons, Inc. Reprinted with permission.

Tables

  • TABLE 1

    Diagnostic tests for Creutzfeldt-Jakob disease: Sensitivity and specificity

    TestingSensitivitySpecificityDiagnostic criteriaNotes
    Magnetic resonance imaging
    DWI or FLAIR3083%83%At least 2 cortical regions affected (parietal–temporal–occipital) or both putamen and nucleus caudatum affectedRetrospective evaluation of pathology-proven CJD
    DWI and FLAIR3191%95%2005 UCSF MRI criteria for CJD31Retrospective evaluation of clinically diagnosed prion disease, majority spontaneous CJD (83%); excellent interreader reliability (kappa 0.96)
    DWI and FLAIR3296%93%2005 UCSF MRI criteria for CJD31Retrospective evaluation of clinically diagnosed prion disease, majority spontaneous CJD (79%)
    DWI3392%94%High-intensity lesions in the striatum (caudate or putamen, or both), lesions in the thalamus including the pulvinar, and/or lesions along the cortical ribbon (cerebral or cerebellar)Retrospective evaluation of clinically diagnosed prion disease, majority spontaneous CJD (78%)
    Electroencephalography32
    64%91%1996 Steinhoff criteria27Retrospective evaluation of pathology-proven CJD
    Cerebrospinal fluid studies34
    14-3-3 protein83%63%Positive testRetrospective analysis of 111 neuropathologically confirmed sCJD cases
    Total tau protein91% 46%Positive test
    RT-QuIC92% 99%Positive test

    • CJD = Creutzfeldt-Jakob disease; DWI = diffusion-weighted imaging; FLAIR = fluid-attenuated inversion recovery; RT-QulC = real-time quaking-induced conversion; sCJD = sporadic Creutzfeldt-Jakob disease; UCSF = University of California, San Francisco

  • TABLE 2

    Criteria for probable diagnosis of sporadic CJD

    1. Neuropsychiatric disorder plus positive RT-QuIC in cerebrospinal fluid or other tissues

      OR

    2. All 3 of the following subcriteria:

      1. Rapidly progressive dementia and at least 2 of these 4 clinical features:

        • Myoclonus

        • Visual or cerebellar disturbances

        • Pyramidal or extrapyramidal dysfunction

        • Akinetic mutism

      2. A positive result on at least 1 of the following laboratory tests:

        • Typical electroencephalogram (periodic sharp-wave complexes) during an illness of any duration

        • Positive 14-3-3 protein cerebrospinal fluid assay in patient with a disease duration of less than 2 years

        • High signal in caudate and/or putamen on MRI, or in at least 2 cortical regions (temporal, parietal, occipital) on DWI or FLAIR

      3. No routine investigation indicates an alternative diagnosis

    • CJD = Creutzfeldt-Jakob disease DWI = diffusion-weighted imaging; FLAIR = fluid-attenuated inversion recovery; MRI = magnetic resonance imaging; RT-QulC = real-time quaking-induced conversion.

      From US Centers for Disease Control and Prevention, reference 41.

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