A 49-Year-Old Man With Forgetfulness and Gait Impairment

Sumaira Nabi, MBBS, FCPS; Sadaf Fayyaz, MBBS; Shahzad Ahmed, MBBS

Disclosures

June 27, 2017

According to the World Health Organization (WHO), the following are the criteria for definite sCJD[30]

  • Diagnosed by standard neuropathologic techniques

  • and/or immunocytochemically

  • and/or Western blot-confirmed protease-resistant prion protein

  • and/or presence of scrapie-associated fibrils

Criteria for probable sCJD are as follows:

  • Progressive dementia

  • At least two of the following four symptoms:

    • Myoclonus

    • Pyramidal/extrapyramidal symptoms

    • Visual or cerebellar symptoms

    • Akinetic mutism

  • Positive EEG (periodic epileptiform discharges) findings and/or a positive 14-3-3 protein result and < 2-year disease duration

  • No alternative diagnosis suggested

Criteria for possible sCJD are as follows:

  • Progressive dementia

  • At least two of the following four symptoms:

    • Myoclonus

    • Pyramidal/extrapyramidal symptoms

    • Visual or cerebellar symptoms

    • Akinetic mutism

  • No supportive EEG findings

Researchers believe that DW-MRI should be appropriately considered among the diagnostic tests because it is noninvasive and has higher sensitivity and specificity than biopsy.[23,24,25,26,27,28,29]

Treatment of prion diseases remains supportive; no specific therapy has been shown to stop the progression of these diseases. Antidementia drugs should be avoided. Pentosan polysulfate, flupirtine, and doxycycline are being investigated for treatment of CJD. The prognosis is dismal; it is an invariably fatal disease, and approximately 90% patients die within 1 year of symptom onset.[31]

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