Subtype diagnosis of sporadic Creutzfeldt-Jakob disease with brain imaging

Takeaway

  • The first practical algorithms for antemortem diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD), ‘Prion Subtype Classification Algorithm with MRI’ (PriSCA_MRI) and ‘PriSCA with MRI and Genotype’ (PriSCA_MRI+Gen) are described.

Why this matters

  • There are several subtypes of sCJD as defined by prion protein and genetic characteristics associated with distinct clinical and pathologic phenotypes; however, to date there is no clinical test able to reliably diagnose subtypes.

  • The provision of algorithms for antemortem diagnosis of sCJD may have potential value in guiding treatment for patients, enhancing current knowledge of the pathogenesis of specific subtypes and supporting the design of future therapeutic trials.