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

Kensuke Sasaki, Katsumi Doh-Ura, Akiko Furuta, Sachi Nakashima, Yumi Morisada, Jun Tateishi, Toru Iwaki

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)

Abstract

Gerstmann-Sträussler-Schein ker 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.

Original languageEnglish
Pages (from-to)92-96
Number of pages5
JournalActa neuropathologica
Volume106
Issue number1
Publication statusPublished - 2003 Jul 1
Externally publishedYes

Keywords

  • Creutzfeldt-Jakob disease
  • Gerstmann-Sträussler-Scheinker syndrome
  • Glial inclusion
  • Prion disease
  • Schizophrenia

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Clinical Neurology
  • Cellular and Molecular Neuroscience

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