Article
Divergent clinical and neuropathological phenotype in a Gerstmann-Sträussler-Scheinker P102L family.
Acta neurologica Scandinavica - 1 Nov 2012
Popova S N, Tarvainen I, Capellari S, Parchi P, Hannikainen P, Pirinen E, Haapasalo H, Alafuzoff I
Abstract excerpt
OBJECTIVES: Gerstmann-Sträussler-Scheinker syndrome belongs to the genetic prion diseases being associated with mutations in the prion protein gene (PRNP). The most common is the point mutation at codon 102, leading to the substitution of proline to leucine (P102L). Previous reports have indicated a phenotypic heterogeneity among individuals with this mutation. Here, we describe the clinical and pathological...
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