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What Promises the CJD Diagnosis in a Case of Rapidly Progressive Dementia?

Sana Aslam1, Mason A Fritz1, Laura Cordes2

  • 1Barrow Neurological Institute, St. Joseph's Hospital and Medical Center Department of Neurology, Phoenix, Arizona, USA.

Journal of Alzheimer'S Disease & Parkinsonism
|February 9, 2019
PubMed
Abstract

Insights

Diagnosing prion diseases like Creutzfeldt-Jakob Disease (CJD) is challenging due to symptom overlap with Alzheimer's and Lewy Body Disease. Real-time quaking induced conversion (RT-QuIC) offers a highly sensitive method for accurate CJD diagnosis.

Area of Science:

  • Neurology
  • Neuroscience
  • Biochemistry

Background:

  • Prion diseases, including Creutzfeldt-Jakob Disease (CJD), present diagnostic challenges due to rarity and overlapping symptoms with Alzheimer's (AD) and Lewy Body Disease (LBD).
  • Current diagnostic methods for CJD often lack sufficient sensitivity, leading to misdiagnosis and compromised patient care.
  • Accurate and timely diagnosis is crucial for managing rapidly progressive dementia.

Purpose of the Study:

  • To evaluate the diagnostic utility of real-time quaking induced conversion (RT-QuIC) assay for Creutzfeldt-Jakob Disease (CJD).
  • To compare the sensitivity of RT-QuIC with conventional diagnostic methods for prion diseases.

Main Methods:

  • A clinical case of a 75-year-old woman with rapidly progressing dementia, initially suspected of CJD, is presented.
  • Standard diagnostic workups including MRI, CSF studies, PET, and EEG were insufficient to confirm CJD.
  • Brain biopsy confirmed spongiform encephalopathy, leading to a diagnosis of sporadic CJD, with RT-QuIC analysis performed.

Main Results:

  • Conventional diagnostic tests were inadequate for confirming CJD in the presented case.
  • RT-QuIC analysis demonstrated high sensitivity for detecting prion disease.
  • The patient was ultimately diagnosed with sporadic CJD following a brain biopsy.

Conclusions:

  • Real-time quaking induced conversion (RT-QuIC) assay exhibits superior sensitivity compared to existing diagnostic approaches for CJD.
  • RT-QuIC shows significant promise as a key diagnostic tool for prion diseases.
  • Early and accurate diagnosis of CJD is achievable with advanced techniques like RT-QuIC.
Keywords:
Creutzfeldt-Jakob diseaseDementiaDiagnosisPrion disease

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