Table 1.

Characteristics of human GSS P102L cases and corresponding model systems

HumanMouseFly
Mutation (background)P102L (huPrP)P101L (moPrP, overexpressed)P101L (moPrP, knock-in)P101L (moPrP, overexpressed)
PhenotypeAtaxiaAtaxia, rigidity, lethargyNoneDevelopmental, locomotor
PathologyPrP amyloid depositsVacuoles, gliosisNoneVacuoles, inclusion bodies
Protease resistanceYesYes, but lowNoNo
Transmissibilitycirca 1/3 casesNoNoNo
  • huPrP, Human PrP; moPrP, mouse PrP.