[Gerstmann-Sträussler-Scheinker disease. Pathologal and genetic study]

Rev Neurol (Paris). 1992;148(5):335-42.
[Article in French]

Abstract

Gerstmann-Sträussler-Scheinker's disease is a familial spongiform encephalopathy whose pathological hallmark is the existence--especially in the cerebellum--of numerous amyloid plaques. We report here the third clinicopathological case in a French family. Brain tissue from one of its members--initially described as familial Creutzfeldt-Jakob's disease--has been reported as successfully inoculated to monkeys. We present the currently accumulating data favouring the hypothesis of a common etiology for familial Creutzfeldt-Jakob's disease and Gerstmann-Sträussler-Scheinker's disease. The familial characteristics, resulting in different durations of incubation and evolution, could lead to different clinical and histological expressions.

Publication types

  • Case Reports
  • English Abstract
  • Review

MeSH terms

  • Amyloidosis / pathology
  • Brain / pathology
  • Cerebellum / pathology
  • Creutzfeldt-Jakob Syndrome / diagnosis
  • Diagnosis, Differential
  • Gerstmann-Straussler-Scheinker Disease / genetics
  • Gerstmann-Straussler-Scheinker Disease / pathology*
  • Humans
  • Kuru / diagnosis
  • Male
  • Middle Aged
  • Pedigree