Diagnosis and Classification of Prion Diseases

Biomarkers are more likely to be positive in patients with typical disease presentations than in patients with a longer disease course or younger age at onset.

Prion diseases such as Creutzfeldt-Jakob disease (CJD) represent a unique form of neurologic illness, with a pathologic mechanism that results in sporadic, familial, and transmissible forms (including variant CJD). Three new studies focus on biomarkers in diagnosing these diseases and on different classification schemes. Currently, the pathologic form of the prion protein (PrP-sc) is classified according to two features (producing six variations): the amino acid polymorphism at the polymorphic codon 129 in the coding region of the PrP gene (MM, VV, or MV), and the size of the PrP fragment that is resistant to proteinase K digestion (designated types 1 and 2).

Sanchez-Juan and colleagues examined levels of various neuronally derived proteins,…

Reviewing Author

Matthew P. Frosch, MD, PhD