Familial Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles

Bernardino Ghetti, F. Tagliavini, G. Giaccone, O. Bugiani, Blas Frangione, M. R. Farlow, S. R. Dlouhy

Research output: Contribution to journalArticlepeer-review


Patients affected with Gerstmann-Sträussler-Scheinker disease from two families, one from Indiana and one of Swedish origin, have been studied. The patients are clinically characterized by cerebellar ataxia, extrapyramidal signs, and dementia. Accumulation of amyloid deposits and neurofibrillary tangles are the most conspicuous neuropathologic features. In the patients from the Indiana family, the amyloid contains an 11-kDa peptide, an amyloidogenic degradation product of the prion protein. The neurofibrillary tangles are composed of paired helical filaments and immunoreact with antibody to A68, an abnormally phosphorylated form of the microtubule-associated protein τ. In these families, the disease is caused by a point mutation in the PRNP gene. In the Indiana family the mutation ist at codon 198, and in the Swedish family at codon 217.

Original languageEnglish
Pages (from-to)41-48
Number of pages8
JournalMolecular Neurobiology
Issue number1
Publication statusPublished - Feb 1994


  • amyloid
  • Gerstmann-Sträussler-Scheinker disease
  • neurofibrillary tangles
  • prion protein

ASJC Scopus subject areas

  • Neuroscience(all)
  • Physiology

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