RECENT FINDINGS: When proper sequences are performed, MRI has high diagnostic utility in
prion disease, but there are issues with interpretation of images. The spectrum of MRI's utility for diagnosis and understanding human
prion disease is still being explored. Two recent diffusion tensor imaging studies quantified changes in the gray and white matter in sporadic
Jakob-Creutzfeldt disease, with unexpected results. The diagnostic utility of cerebrospinal fluid
biomarkers has been controversial. A few studies showed that amplification methods can detect
prions in either cerebrospinal fluid, olfactory epithelium, blood and/or urine in various human
prion diseases. Additional cases of variably
protease-sensitive prionopathy have led to a broader understanding of this novel sporadic
prion disease. A few new mutations causing genetic
prion disease, one with a very atypical presentation, have been identified. Although recent human
prion disease treatment trials did not show benefit, they have improved our understanding, and led to better quantification, of the progression of these disorders. Lastly, we briefly summarize the increasing evidence that many nonprion neurodegenerative
proteinopathies might spread in the brain by a
prion-like mechanism.
SUMMARY: New
prion detection methods appear promising, but need to be replicated with larger sample sizes. Identification of novel forms of human
prion disease might better elucidate the full spectrum of
prion diseases and expand our understanding of their pathogenesis.