Neuropathological features of a case with schizophrenia and prion protein gene P102L mutation before onset of Gerstmann-Sträussler-Scheinker disease

Acta Neuropathol. 2003 Jul;106(1):92-6. doi: 10.1007/s00401-003-0697-y. Epub 2003 Apr 8.


Gerstmann-Sträussler-Scheinker disease (GSS) is a hereditary transmissible spongiform encephalopathy associated with prion protein gene mutation P102L. The age of onset is roughly restricted to around the sixth decade; however, it is unclear whether the disease-specific pathology of GSS is already evident in the pre-clinical stage. We had a chance to examine an autopsy case with PRNP P102L mutation. The patient had died at 50 years of age before the clinical symptoms of GSS had appeared; neither neuronal loss, gliosis nor spongiform change was found anywhere in the brain. Immunohistochemistry failed to detect any deposition of prion protein. It is thus considered that amyloid plaque formation in GSS probably develops in a relatively rapid fashion compared with Alzheimer's disease. Although the patient suffered from schizophrenia, no significant pathological changes were detected except for astrocytic inclusion bodies in the cerebral cortex. The nature and significance of the inclusion bodies, which are not observed in patients with GSS, remain unclear.

Publication types

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

MeSH terms

  • Amyloid beta-Peptides / metabolism
  • Astrocytes / metabolism
  • Astrocytes / ultrastructure
  • Brain / metabolism
  • Brain / pathology
  • Brain / ultrastructure
  • Family Health
  • Female
  • Gerstmann-Straussler-Scheinker Disease / complications
  • Gerstmann-Straussler-Scheinker Disease / genetics*
  • Gerstmann-Straussler-Scheinker Disease / metabolism
  • Gerstmann-Straussler-Scheinker Disease / pathology
  • Glial Fibrillary Acidic Protein / metabolism
  • Humans
  • Immunohistochemistry
  • Inclusion Bodies / pathology
  • Inclusion Bodies / ultrastructure
  • Leucine / genetics*
  • Microscopy, Electron
  • Middle Aged
  • Mutation*
  • Organ Size
  • Pedigree
  • Prions / genetics*
  • Prions / metabolism
  • Proline / genetics*
  • S100 Proteins / metabolism
  • Schizophrenia / complications
  • Schizophrenia / genetics*
  • Schizophrenia / pathology
  • Staining and Labeling / methods
  • Ubiquitin / metabolism


  • Amyloid beta-Peptides
  • Glial Fibrillary Acidic Protein
  • Prions
  • S100 Proteins
  • Ubiquitin
  • Proline
  • Leucine