A variant of Gerstmann-Sträussler-Scheinker disease carrying codon 105 mutation with codon 129 polymorphism of the prion protein gene: A clinicopathological study

@article{Itoh1994AVO,
  title={A variant of Gerstmann-Str{\"a}ussler-Scheinker disease carrying codon 105 mutation with codon 129 polymorphism of the prion protein gene: A clinicopathological study},
  author={Yoshinori Itoh and Masahito Yamada and Michio Hayakawa and Takeshi Shozawa and Eiichi Otomo},
  journal={Journal of the Neurological Sciences},
  year={1994},
  volume={127},
  pages={77-86}
}
A case was reported of variant Gerstmann-Sträussler-Scheinker disease (GSS) carrying codon 105 mutation (Pro to Leu) with codon 129 polymorphism (Met/Val) of the prion protein (PrP) gene. The male patient had developed clumsiness of the right hand at age 42, and subsequently exhibited slowly progressive spastic paraparesis, ataxia, dysarthria, memory disturbance and apraxia. Myoclonus or periodic synchronous discharge was not observed. He died at age 53. The cerebral cortex and white matter… CONTINUE READING
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