De novo P102L mutation in a patient with Gerstmann-Sträussler-Scheinker disease

Eur J Neurol. 2011 Dec;18(12):e152-3. doi: 10.1111/j.1468-1331.2011.03531.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Ataxia / etiology
  • Brain / pathology
  • Codon / genetics
  • Diagnosis, Differential
  • Fatal Outcome
  • Female
  • Genotype
  • Gerstmann-Straussler-Scheinker Disease / diagnosis
  • Gerstmann-Straussler-Scheinker Disease / genetics*
  • Gerstmann-Straussler-Scheinker Disease / pathology
  • Humans
  • Mutation, Missense*
  • Plaque, Amyloid
  • Point Mutation*
  • PrPSc Proteins / genetics*
  • Prion Proteins
  • Prions / genetics*

Substances

  • Codon
  • PRNP protein, human
  • PrPSc Proteins
  • Prion Proteins
  • Prions