The Original Gerstmann‐Sträussler‐Scheinker Family of Austria: Divergent Clinicopathological Phenotypes but Constant PrP Genotype

Johann A. Hainfellner, Sigrid Brantner‐Inthaler, Larisa Cervenáková, Paul Brown, Tetsuyuki Kitamoto, Jun Tateishi, Heino Diringer, Pawel P. Liberski, Heinz Regele, Martha Feucht, Norbert Mayr, Peter Wessely, Kurt Summer, Franz Seitelberger, Herbert Budka

Research output: Contribution to journalArticlepeer-review

126 Citations (Scopus)

Abstract

We present new data on the original Austrian kindred with Gerstmann‐Sträussler‐Scheinker disease (GSS) which encompasses currently 221 members in 9 generations. The mode of inheritance is autosomal dominant. Predominant clinical features are slowly progressive ataxia and late impairment of higher cerebral functins. In contrast, a recent case with proven P102L mutation of the PRNP gene had rapidly developing dementia and severe cortical damage indistinguishable from the clinicopathological phenotype of Creutzfeldt‐Jakob disease (CJD). PRNP codon 129 was homozygous for methionine in both the historic and recent cases. Neuropathology confirms spongiosis of variable degree and numerous protease resistant / prion protein (PrP) amyloid plaques scattered throughout most of the brain as constant features in this family. Some amyloid deposits are surrounded by dystrophic neurites with accumulation of phosphorylated neurofilaments and abnormal organelles, reminiscent of Alzheimer‐type plaques. Severe telencephalic damage and a synaptic‐type fine granular immunoreactivity in laminar distribution in the cortex with anti‐PrP after hydrated autoclaving of sections were seen only in the recent patient. In conclusion, factors in addition to the PRNP genotype at codons 102 and 129 must play a role in determining clinicopathological characteristics of this inherited brain amyloidosis.

Original languageEnglish
Pages (from-to)201-211
Number of pages11
JournalBrain Pathology
Volume5
Issue number3
DOIs
Publication statusPublished - 1995 Jul
Externally publishedYes

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Neuroscience(all)
  • Clinical Neurology

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