We found novel variants in the open reading frame of the priors protein (PrP) gene in a family with Gerstmann-Sträussler syndrome (GSS). Codon 219Lys variant is a normal polymorphism which we found recently. Some GSS cases were identified with codon 102 mutation (proline to leucine) and Codon 219Lys polymorphism. While two families had a Codon 102 mutation and codon 219Lys polymorphism in different alleles, 4 patients in one family had both in the same allele. The clinicopathological features of these 4 patients were clearly different from previously reported GSS patients with Codon 102 mutation. These cases should be reported as a new variant of GSS.
- Codon 102 mutation
- Codon 219 polymorphism
- Gerstmann-Sträussler syndrome
- Prion protein
ASJC Scopus subject areas
- Molecular Biology
- Cellular and Molecular Neuroscience