Prion characteristics associated with atypical fatal familial insomnia

Takeaway

  • An atypical phenotype of fatal familial insomnia (FFI) is likely caused by a different strain of prion from typical cases; the atypical FFI prion may also be present in people with sporadic familial insomnia (sFI).

Why this matters

  • FFI is a rare prion disease typically exhibiting severe neuronal loss in thalamic and olivary regions; however, atypical presentations of FFI occur marked by spongiform encephalopathy of the cortex.

  • Understanding the genetic and pathological differences between the two forms of FFI may lead to improvements in treatment and clinical outcomes.