Gerstmann-Sträussler-Scheinker disease with the Q217R mutation mimicking frontotemporal dementia

Acta Neuropathol. 2005 Sep;110(3):317-9. doi: 10.1007/s00401-005-1054-0. Epub 2005 Jul 16.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution / genetics
  • Brain / pathology*
  • Brain / physiopathology
  • DNA Mutational Analysis
  • Dementia / diagnosis*
  • Diagnosis, Differential
  • Disease Progression
  • Fatal Outcome
  • Female
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics
  • Gerstmann-Straussler-Scheinker Disease / diagnosis*
  • Gerstmann-Straussler-Scheinker Disease / genetics
  • Gerstmann-Straussler-Scheinker Disease / physiopathology
  • Gliosis / etiology
  • Gliosis / pathology
  • Humans
  • Middle Aged
  • Mutation / genetics*
  • Nerve Degeneration / genetics
  • Nerve Degeneration / pathology
  • Nerve Degeneration / physiopathology
  • Neurofibrillary Tangles / genetics
  • Neurofibrillary Tangles / pathology
  • Plaque, Amyloid / pathology
  • Prions / genetics*

Substances

  • Genetic Markers
  • Prions